#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AACS	65985	genome.wustl.edu	37	12	125587612	125587612	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:125587612C>G	ENST00000316519.6	+	7	958	c.752C>G	c.(751-753)tCa>tGa	p.S251*	AACS_ENST00000261686.6_Nonsense_Mutation_p.S251*|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	251					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAGACCTTTCAAAGATTCCA	0.507																																																	0													156.0	158.0	157.0					12																	125587612		2203	4300	6503	SO:0001587	stop_gained	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.752C>G	12.37:g.125587612C>G	ENSP00000324842:p.Ser251*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.S251*	ENST00000316519.6	37	c.752	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731260	0.89390	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477;ENST00000537564;ENST00000441247	.	.	.	5.32	4.42	0.53409	.	0.052421	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	14.0444	0.64695	0.0:0.9249:0.0:0.0751	.	.	.	.	X	251;251;107;82;32;70	.	ENSP00000261686:S251X	S	+	2	0	AACS	124153565	1.000000	0.71417	0.222000	0.23844	0.025000	0.11179	5.138000	0.64795	2.470000	0.83445	0.555000	0.69702	TCA	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.507	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	C	NM_023928		125587612	+1	no_errors	ENST00000316519	ensembl	human	known	70_37	nonsense	SNP	0.998	G
AAK1	22848	genome.wustl.edu	37	2	69746217	69746217	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:69746217G>C	ENST00000409085.4	-	12	1742	c.1366C>G	c.(1366-1368)Cag>Gag	p.Q456E	AAK1_ENST00000406297.3_Missense_Mutation_p.Q456E|AAK1_ENST00000409068.1_Missense_Mutation_p.Q456E|SNORA36C_ENST00000384289.1_RNA|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	456	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCTGGGCCTGAGCGGGCAGA	0.662																																																	0													37.0	42.0	40.0					2																	69746217		2113	4204	6317	SO:0001583	missense	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1366C>G	2.37:g.69746217G>C	ENSP00000386456:p.Gln456Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q456E	ENST00000409085.4	37	c.1366	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262958	0.39995	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.33865	1.39;1.39;1.39	4.57	4.57	0.56435	.	2.923150	0.00550	N	0.000243	T	0.23572	0.0570	N	0.08118	0	0.22305	N	0.999215	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.18263	0.009;0.021;0.006	T	0.23797	-1.0178	10	0.02654	T	1	-0.168	14.2027	0.65714	0.0:0.0:1.0:0.0	.	456;456;456	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	E	456	ENSP00000386342:Q456E;ENSP00000386456:Q456E;ENSP00000385181:Q456E	ENSP00000385181:Q456E	Q	-	1	0	AAK1	69599721	1.000000	0.71417	0.959000	0.39883	0.898000	0.52572	3.672000	0.54583	2.364000	0.80123	0.655000	0.94253	CAG	AAK1	-	NULL		0.662	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69746217	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	missense	SNP	0.990	C
ABCA1	19	genome.wustl.edu	37	9	107578433	107578433	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:107578433G>T	ENST00000374736.3	-	25	4123	c.3729C>A	c.(3727-3729)acC>acA	p.T1243T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1243					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTTCTTCCAGGGTCGTCTCTG	0.483																																																	0													166.0	178.0	174.0					9																	107578433		2203	4300	6503	SO:0001819	synonymous_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3729C>A	9.37:g.107578433G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1243	ENST00000374736.3	37	c.3729	CCDS6762.1	9																																																																																			ABCA1	-	NULL		0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107578433	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	silent	SNP	0.954	T
ABCA12	26154	genome.wustl.edu	37	2	215818592	215818592	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:215818592C>G	ENST00000272895.7	-	44	6852	c.6633G>C	c.(6631-6633)ctG>ctC	p.L2211L	ABCA12_ENST00000389661.4_Silent_p.L1893L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2211					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCTTTATCAGGGATTCGT	0.343																																					Ovarian(66;664 1488 5121 34295)												0													51.0	49.0	50.0					2																	215818592		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6633G>C	2.37:g.215818592C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2211	ENST00000272895.7	37	c.6633	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215818592	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	0.629	G
ABCA3	21	genome.wustl.edu	37	16	2376198	2376198	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2376198C>T	ENST00000301732.5	-	5	832	c.132G>A	c.(130-132)ttG>ttA	p.L44L	ABCA3_ENST00000567910.1_Silent_p.L44L|ABCA3_ENST00000382381.3_Silent_p.L44L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	44					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ACTGAATCTTCAAGCGGAGCC	0.562																																																	0													87.0	88.0	88.0					16																	2376198		2198	4300	6498	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.132G>A	16.37:g.2376198C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L44	ENST00000301732.5	37	c.132	CCDS10466.1	16																																																																																			ABCA3	-	NULL		0.562	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	C	NM_001089		2376198	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	silent	SNP	1.000	T
ABCA5	23461	genome.wustl.edu	37	17	67246763	67246763	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:67246763C>G	ENST00000392676.3	-	36	4600		c.e36-1		ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCCGATACATCTGAAGTAATT	0.289																																																	0													30.0	30.0	30.0					17																	67246763		2198	4291	6489	SO:0001630	splice_region_variant	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4536-1G>C	17.37:g.67246763C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	-	e35-1	ENST00000392676.3	37	c.4539-1	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635954	0.87760	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64758358	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.636000	0.74299	2.885000	0.99019	0.655000	0.94253	.	ABCA5	-	-		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	C	NM_018672	Intron	67246763	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ABCB1	5243	genome.wustl.edu	37	7	87135251	87135251	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:87135251C>G	ENST00000265724.3	-	28	4015	c.3598G>C	c.(3598-3600)Gat>Cat	p.D1200H	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1136H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1200	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTGGCTTCATCCAAAAGCAAA	0.418																																																	0													163.0	150.0	154.0					7																	87135251		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3598G>C	7.37:g.87135251C>G	ENSP00000265724:p.Asp1200His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D1200H	ENST00000265724.3	37	c.3598	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.250172	0.95305	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.99695	-6.43;-6.43	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96702	0.9519	10	0.87932	D	0	-30.7427	19.3618	0.94442	0.0:1.0:0.0:0.0	.	1136;1200	B5AK60;P08183	.;MDR1_HUMAN	H	981;1200;1136	ENSP00000265724:D1200H;ENSP00000444095:D1136H	ENSP00000265724:D1200H	D	-	1	0	ABCB1	86973187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.820000	0.97059	0.650000	0.86243	GAT	ABCB1	-	pfam_ABC_transporter-like,pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	C	NM_000927		87135251	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCB11	8647	genome.wustl.edu	37	2	169826001	169826001	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:169826001C>T	ENST00000263817.6	-	16	1994	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	624	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGATGGTATCTGCAGCTCTG	0.433																																																	0													104.0	96.0	98.0					2																	169826001		1967	4168	6135	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1870G>A	2.37:g.169826001C>T	ENSP00000263817:p.Asp624Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D624N	ENST00000263817.6	37	c.1870	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247757	0.59103	.	.	ENSG00000073734	ENST00000263817	D	0.81821	-1.54	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.82586	0.5069	M	0.71036	2.16	0.80722	D	1	B;B	0.26081	0.141;0.061	B;B	0.30401	0.112;0.115	T	0.80834	-0.1205	10	0.62326	D	0.03	.	19.3783	0.94521	0.0:1.0:0.0:0.0	.	66;624	B4DZQ8;O95342	.;ABCBB_HUMAN	N	624	ENSP00000263817:D624N	ENSP00000263817:D624N	D	-	1	0	ABCB11	169534247	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	4.882000	0.63121	2.573000	0.86826	0.585000	0.79938	GAT	ABCB11	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.433	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	C	NM_003742		169826001	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCC10	89845	genome.wustl.edu	37	6	43413544	43413544	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:43413544C>T	ENST00000372530.4	+	15	3453	c.3238C>T	c.(3238-3240)Cac>Tac	p.H1080Y	ABCC10_ENST00000244533.3_Missense_Mutation_p.H1052Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1080	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CATGTACTATCACGTGCAGCG	0.672																																																	0													41.0	40.0	40.0					6																	43413544		2203	4299	6502	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3238C>T	6.37:g.43413544C>T	ENSP00000361608:p.His1080Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H1080Y	ENST00000372530.4	37	c.3238	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.077638	0.00375	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.88896	-2.44;-2.44	5.16	1.05	0.20165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.546700	0.21148	N	0.079366	T	0.28566	0.0707	N	0.00405	-1.535	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.17098	0.0;0.017	T	0.52682	-0.8543	10	0.02654	T	1	-4.4135	0.7433	0.00977	0.4013:0.2387:0.1993:0.1607	.	1052;1080	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	1080;1052	ENSP00000361608:H1080Y;ENSP00000244533:H1052Y	ENSP00000244533:H1052Y	H	+	1	0	ABCC10	43521522	0.026000	0.19158	0.011000	0.14972	0.136000	0.21042	0.546000	0.23284	0.321000	0.23259	-0.152000	0.13540	CAC	ABCC10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.672	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43413544	+1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	0.020	T
ABCC11	85320	genome.wustl.edu	37	16	48209285	48209285	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:48209285G>A	ENST00000394747.1	-	25	3931	c.3582C>T	c.(3580-3582)ccC>ccT	p.P1194P	ABCC11_ENST00000353782.5_Silent_p.P1194P|ABCC11_ENST00000394748.1_Silent_p.P1194P|ABCC11_ENST00000356608.2_Silent_p.P1194P|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1194	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GGCCTGCCATGGGCTCCACCA	0.597																																																	0													57.0	51.0	53.0					16																	48209285		2201	4300	6501	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3582C>T	16.37:g.48209285G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.P1194	ENST00000394747.1	37	c.3582	CCDS10732.1	16																																																																																			ABCC11	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48209285	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	silent	SNP	0.000	A
ABCC3	8714	genome.wustl.edu	37	17	48746594	48746594	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:48746594G>A	ENST00000285238.8	+	16	2111	c.2031G>A	c.(2029-2031)gaG>gaA	p.E677E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	677	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGCTGGGAGAGATGGAGAAGC	0.652																																																	0													55.0	62.0	59.0					17																	48746594		2203	4300	6503	SO:0001819	synonymous_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2031G>A	17.37:g.48746594G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E677	ENST00000285238.8	37	c.2031	CCDS32681.1	17																																																																																			ABCC3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.652	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	G	NM_020038		48746594	+1	no_errors	ENST00000285238	ensembl	human	known	70_37	silent	SNP	1.000	A
ABCC4	10257	genome.wustl.edu	37	13	95695857	95695857	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:95695857C>G	ENST00000376887.4	-	29	3850				ABCC4_ENST00000412704.1_Intron	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGGTTTCTATCAAGTTTTACA	0.373																																																	0																																										SO:0001627	intron_variant	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3735+78G>C	13.37:g.95695857C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	RNA	SNP	-	NULL	ENST00000376887.4	37	NULL	CCDS9474.1	13																																																																																			ABCC4	-	-		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95695857	-1	no_errors	ENST00000484109	ensembl	human	known	70_37	rna	SNP	0.000	G
ABCC4	10257	genome.wustl.edu	37	13	95696671	95696671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:95696671C>A	ENST00000376887.4	-	28	3592	c.3478G>T	c.(3478-3480)Gaa>Taa	p.E1160*	ABCC4_ENST00000412704.1_Nonsense_Mutation_p.E1113*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1160	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGAAGATCTTCAATGGTTTCT	0.403																																																	0													70.0	67.0	68.0					13																	95696671		2202	4300	6502	SO:0001587	stop_gained	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3478G>T	13.37:g.95696671C>A	ENSP00000366084:p.Glu1160*	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.E1160*	ENST00000376887.4	37	c.3478	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	44	11.036869	0.99507	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	.	.	.	5.67	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.8244	0.70101	0.0:0.9307:0.0:0.0693	.	.	.	.	X	1113;1160	.	ENSP00000366084:E1160X	E	-	1	0	ABCC4	94494672	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	7.487000	0.81328	1.403000	0.46800	0.655000	0.94253	GAA	ABCC4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.403	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95696671	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ABCD3	5825	genome.wustl.edu	37	1	94946072	94946072	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:94946072G>A	ENST00000370214.4	+	9	761	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	ABCD3_ENST00000454898.2_Missense_Mutation_p.R270Q|ABCD3_ENST00000394233.2_Missense_Mutation_p.R246Q|ABCD3_ENST00000536817.1_Missense_Mutation_p.R173Q	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	246	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTCCTAACTCGACTTCGAAGA	0.393																																																	0													121.0	116.0	118.0					1																	94946072		2203	4300	6503	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.737G>A	1.37:g.94946072G>A	ENSP00000359233:p.Arg246Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.R270Q	ENST00000370214.4	37	c.809	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319146	0.60524	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.13	3.2	0.36748	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.058735	0.64402	D	0.000003	D	0.94594	0.8258	M	0.64567	1.98	0.54753	D	0.999984	P;D;B	0.76494	0.74;0.999;0.375	B;D;B	0.68039	0.375;0.955;0.267	D	0.92751	0.6216	10	0.30078	T	0.28	-2.8981	14.4637	0.67470	0.0:0.0:0.7324:0.2676	.	270;246;246	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	Q	246;270;173;246	ENSP00000377780:R246Q;ENSP00000403357:R270Q;ENSP00000440692:R173Q;ENSP00000359233:R246Q	ENSP00000359233:R246Q	R	+	2	0	ABCD3	94718660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.191000	0.94940	0.627000	0.30340	0.650000	0.86243	CGA	ABCD3	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter		0.393	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	G	NM_002858		94946072	+1	no_errors	ENST00000454898	ensembl	human	known	70_37	missense	SNP	1.000	A
ABI3BP	25890	genome.wustl.edu	37	3	100581727	100581727	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:100581727C>T	ENST00000284322.5	-	12	1194				ABI3BP_ENST00000471714.1_Missense_Mutation_p.E396K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E396K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTTGCCTCAGGAAATTCT	0.363																																																	0																																										SO:0001627	intron_variant	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1085-498G>A	3.37:g.100581727C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E396K	ENST00000284322.5	37	c.1186	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885816	0.51908	.	.	ENSG00000154175	ENST00000471714;ENST00000495063	T	0.19250	2.16	5.95	4.12	0.48240	.	.	.	.	.	T	0.09730	0.0239	.	.	.	0.80722	D	1	B	0.29646	0.253	B	0.25291	0.059	T	0.14309	-1.0477	8	0.09590	T	0.72	0.0083	6.0885	0.19980	0.1414:0.3691:0.4895:0.0	.	396	Q5JPC9	.	K	396	ENSP00000420524:E396K	ENSP00000420524:E396K	E	-	1	0	ABI3BP	102064417	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.645000	0.24782	0.791000	0.33826	0.650000	0.86243	GAG	ABI3BP	-	NULL		0.363	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	C			100581727	-1	no_errors	ENST00000495063	ensembl	human	putative	70_37	missense	SNP	1.000	T
ABCF3	55324	genome.wustl.edu	37	3	183905482	183905482	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:183905482G>A	ENST00000429586.2	+	5	564	c.379G>A	c.(379-381)Gag>Aag	p.E127K	ABCF3_ENST00000292808.5_Missense_Mutation_p.E121K|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	127					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGAAGGCCGAGGCTCGACT	0.522																																																	0													83.0	75.0	78.0					3																	183905482		2203	4300	6503	SO:0001583	missense	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.379G>A	3.37:g.183905482G>A	ENSP00000411471:p.Glu127Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E127K	ENST00000429586.2	37	c.379	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337315	0.81911	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92647	-3.08;-3.08	4.57	4.57	0.56435	.	0.121851	0.53938	N	0.000045	D	0.91365	0.7276	M	0.73319	2.225	0.80722	D	1	B;P	0.35551	0.439;0.509	B;B	0.35182	0.197;0.091	D	0.92411	0.5937	10	0.72032	D	0.01	-18.0815	16.3557	0.83234	0.0:0.0:1.0:0.0	.	121;127	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	K	127;121	ENSP00000411471:E127K;ENSP00000292808:E121K	ENSP00000292808:E121K	E	+	1	0	ABCF3	185388176	1.000000	0.71417	0.987000	0.45799	0.906000	0.53458	9.256000	0.95535	2.098000	0.63641	0.462000	0.41574	GAG	ABCF3	-	NULL		0.522	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	G	NM_018358		183905482	+1	no_errors	ENST00000429586	ensembl	human	known	70_37	missense	SNP	0.999	A
ABTB2	25841	genome.wustl.edu	37	11	34378318	34378318	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:34378318G>C	ENST00000435224.2	-	1	1237	c.813C>G	c.(811-813)atC>atG	p.I271M	ABTB2_ENST00000298992.2_Missense_Mutation_p.I85M	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	271					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGTCGTTGTTGATGACCATCT	0.657																																																	0													26.0	27.0	27.0					11																	34378318		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.813C>G	11.37:g.34378318G>C	ENSP00000410157:p.Ile271Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,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	p.I271M	ENST00000435224.2	37	c.813	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992574	0.54041	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.66815	-0.23;-0.23	4.96	4.04	0.47022	Histone-fold (2);	0.136051	0.50627	D	0.000118	T	0.69079	0.3071	M	0.68317	2.08	0.50632	D	0.999885	P	0.45902	0.868	P	0.48030	0.564	T	0.70263	-0.4920	10	0.39692	T	0.17	-12.1423	12.6874	0.56956	0.0809:0.0:0.9191:0.0	.	85	Q8N961	ABTB2_HUMAN	M	271;85	ENSP00000410157:I271M;ENSP00000298992:I85M	ENSP00000298992:I85M	I	-	3	3	ABTB2	34334894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.845000	0.55880	2.296000	0.77279	0.455000	0.32223	ATC	ABTB2	-	superfamily_Histone-fold		0.657	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	G	NM_145804		34378318	-1	no_errors	ENST00000435224	ensembl	human	known	70_37	missense	SNP	1.000	C
ACACB	32	genome.wustl.edu	37	12	109634908	109634908	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:109634908C>T	ENST00000338432.7	+	17	2696	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	ACACB_ENST00000377854.5_Silent_p.L859L|ACACB_ENST00000377848.3_Silent_p.L859L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	859					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCTCCTGCTCTCCTACAATG	0.582																																																	0													72.0	61.0	65.0					12																	109634908		2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2577C>T	12.37:g.109634908C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L859	ENST00000338432.7	37	c.2577	CCDS31898.1	12																																																																																			ACACB	-	NULL		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	C	NM_001093		109634908	+1	no_errors	ENST00000338432	ensembl	human	known	70_37	silent	SNP	1.000	T
ACAD9	28976	genome.wustl.edu	37	3	128615308	128615308	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128615308G>A	ENST00000308982.7	+	5	564	c.483G>A	c.(481-483)caG>caA	p.Q161Q		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	161						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.Q161Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGAGGAGCAGAAAGCCAAAT	0.512																																																	1	Substitution - coding silent(1)	lung(1)											94.0	85.0	88.0					3																	128615308		2203	4300	6503	SO:0001819	synonymous_variant	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.483G>A	3.37:g.128615308G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNB8|Q8WXX3	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q161	ENST00000308982.7	37	c.483	CCDS3053.1	3																																																																																			ACAD9	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase		0.512	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	G	NM_014049		128615308	+1	no_errors	ENST00000308982	ensembl	human	known	70_37	silent	SNP	1.000	A
ACBD4	79777	genome.wustl.edu	37	17	43213571	43213571	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43213571G>A	ENST00000376955.4	+	2	357	c.60G>A	c.(58-60)gtG>gtA	p.V20V	ACBD4_ENST00000591859.1_Silent_p.V20V|ACBD4_ENST00000321854.8_Silent_p.V20V|ACBD4_ENST00000586346.1_Silent_p.V20V|ACBD4_ENST00000592162.1_Silent_p.V20V|ACBD4_ENST00000431281.1_Silent_p.V20V|ACBD4_ENST00000398322.3_Silent_p.V20V|ACBD4_ENST00000591136.1_3'UTR	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	20	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						AGGCTGCAGTGAGCGTCATCC	0.592																																																	0													30.0	37.0	34.0					17																	43213571		2061	4194	6255	SO:0001819	synonymous_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.60G>A	17.37:g.43213571G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX64|Q8IUT1|Q9H8Q4	Silent	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.V20	ENST00000376955.4	37	c.60	CCDS45711.1	17																																																																																			ACBD4	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein		0.592	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	G	NM_024722		43213571	+1	no_errors	ENST00000431281	ensembl	human	known	70_37	silent	SNP	0.803	A
ACE	1636	genome.wustl.edu	37	17	61557756	61557756	+	Silent	SNP	C	C	T	rs556856171		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:61557756C>T	ENST00000290866.4	+	5	738	c.714C>T	c.(712-714)gaC>gaT	p.D238D	ACE_ENST00000428043.1_Silent_p.D238D|ACE_ENST00000538928.1_Silent_p.D238D|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	238	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.D238D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTTCGAGGACGATCTGGAAC	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17221	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	endometrium(1)											156.0	129.0	138.0					17																	61557756		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.714C>T	17.37:g.61557756C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.D238	ENST00000290866.4	37	c.714	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2		0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	C			61557756	+1	no_errors	ENST00000290866	ensembl	human	known	70_37	silent	SNP	0.987	T
ACIN1	22985	genome.wustl.edu	37	14	23551033	23551033	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:23551033G>A	ENST00000262710.1	-	5	950	c.623C>T	c.(622-624)tCa>tTa	p.S208L	ACIN1_ENST00000555053.1_Missense_Mutation_p.S208L|ACIN1_ENST00000605057.1_Missense_Mutation_p.S150L|ACIN1_ENST00000457657.1_Missense_Mutation_p.S168L|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	208	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTCAGAAATTGAGGAGCTTTT	0.378																																																	0													181.0	168.0	172.0					14																	23551033		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.623C>T	14.37:g.23551033G>A	ENSP00000262710:p.Ser208Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.S208L	ENST00000262710.1	37	c.623	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446674	0.63178	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.32;1.55;2.32	5.48	4.58	0.56647	.	0.000000	0.38897	N	0.001526	T	0.36608	0.0973	N	0.25647	0.755	0.23645	N	0.997216	D;D	0.63046	0.992;0.987	D;D	0.71656	0.974;0.942	T	0.10177	-1.0641	10	0.33141	T	0.24	-8.3847	9.2285	0.37421	0.1596:0.0:0.8404:0.0	.	208;208	G3V3M7;Q9UKV3	.;ACINU_HUMAN	L	208;168;208	ENSP00000262710:S208L;ENSP00000405677:S168L;ENSP00000451328:S208L	ENSP00000262710:S208L	S	-	2	0	ACIN1	22620873	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	3.343000	0.52167	2.556000	0.86216	0.655000	0.94253	TCA	ACIN1	-	NULL		0.378	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23551033	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	0.785	A
ACOX2	8309	genome.wustl.edu	37	3	58490952	58490952	+	Nonstop_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:58490952C>G	ENST00000302819.5	-	15	2336	c.2045G>C	c.(2044-2046)tGa>tCa	p.*682S	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Nonstop_Mutation_p.*668S	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	0					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTGGTTATTTCATAGCTTGGA	0.323																																																	0													185.0	186.0	185.0					3																	58490952		2203	4300	6503	SO:0001578	stop_lost	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.2045G>C	3.37:g.58490952C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF16|B2R8U5	Nonstop_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.*682S	ENST00000302819.5	37	c.2045	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067989	0.55539	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	.	.	.	5.72	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3391	0.32232	0.0:0.7641:0.0:0.2359	.	.	.	.	S	668;682	.	.	X	-	2	2	ACOX2	58465992	0.998000	0.40836	0.978000	0.43139	0.976000	0.68499	1.006000	0.29847	1.430000	0.47334	0.579000	0.79373	TGA	ACOX2	-	NULL		0.323	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58490952	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	nonstop	SNP	0.999	G
ACSL4	2182	genome.wustl.edu	37	X	108887380	108887380	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:108887380G>C	ENST00000469796.2	-	16	2410	c.2014C>G	c.(2014-2016)Cga>Gga	p.R672G	ACSL4_ENST00000348502.6_Missense_Mutation_p.R631G|ACSL4_ENST00000340800.2_Missense_Mutation_p.R672G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	672					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GGGCTTAATCGAACCTTGATT	0.448																																					Pancreas(188;358 2127 38547 41466 45492)												0													96.0	83.0	88.0					X																	108887380		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.2014C>G	X.37:g.108887380G>C	ENSP00000419171:p.Arg672Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R672G	ENST00000469796.2	37	c.2014	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921747	0.52653	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.11495	2.77;2.77;2.77	5.49	1.79	0.24919	.	0.173521	0.52532	D	0.000076	T	0.17238	0.0414	M	0.83953	2.67	0.37655	D	0.922545	P	0.43287	0.802	B	0.43052	0.406	T	0.07233	-1.0783	10	0.35671	T	0.21	-0.0456	9.795	0.40728	0.2854:0.0:0.7146:0.0	.	672	O60488	ACSL4_HUMAN	G	631;672;672	ENSP00000262835:R631G;ENSP00000419171:R672G;ENSP00000339787:R672G	ENSP00000339787:R672G	R	-	1	2	ACSL4	108774036	1.000000	0.71417	0.536000	0.28039	0.945000	0.59286	4.458000	0.60095	-0.006000	0.14370	0.600000	0.82982	CGA	ACSL4	-	NULL		0.448	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	G	NM_004458		108887380	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	0.994	C
ACSM4	341392	genome.wustl.edu	37	12	7475902	7475902	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:7475902G>C	ENST00000399422.4	+	8	1246	c.1198G>C	c.(1198-1200)Gat>Cat	p.D400H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	400					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GCTGCCCTATGATGTCCAGGT	0.398																																																	0													52.0	50.0	51.0					12																	7475902		1875	4114	5989	SO:0001583	missense	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1198G>C	12.37:g.7475902G>C	ENSP00000382349:p.Asp400His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTI6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D400H	ENST00000399422.4	37	c.1198	CCDS44825.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.108225|3.108225	0.56291|0.56291	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000399422|ENST00000524777	T|.	0.42131|.	0.98|.	3.64|3.64	3.64|3.64	0.41730|0.41730	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.40064|.	U|.	0.001197|.	T|.	0.72795|.	0.3505|.	M|M	0.75150|0.75150	2.29|2.29	0.45883|0.45883	D|D	0.998734|0.998734	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|.	0.74515|.	-0.3640|.	10|.	0.41790|.	T|.	0.15|.	6.3125|6.3125	13.6094|13.6094	0.62068|0.62068	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	400|.	P0C7M7|.	ACSM4_HUMAN|.	H|S	400|77	ENSP00000382349:D400H|.	ENSP00000382349:D400H|.	D|X	+|+	1|2	0|2	ACSM4|ACSM4	7367169|7367169	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.878000|0.878000	0.50629|0.50629	4.200000|4.200000	0.58433|0.58433	1.976000|1.976000	0.57569|0.57569	0.557000|0.557000	0.71058|0.71058	GAT|TGA	ACSM4	-	pfam_AMP-dep_Synth/Lig		0.398	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	G	NM_001080454		7475902	+1	no_errors	ENST00000399422	ensembl	human	novel	70_37	missense	SNP	1.000	C
ACSS1	84532	genome.wustl.edu	37	20	25038603	25038603	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:25038603G>A	ENST00000323482.4	-	1	215	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	ACSS1_ENST00000376726.3_Missense_Mutation_p.P46S|ACSS1_ENST00000432802.2_Missense_Mutation_p.P46S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	46	Poly-Ala.				acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAACTGCGGGAGCGCTGCCC	0.781																																																	0													5.0	6.0	6.0					20																	25038603		2062	4111	6173	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.136C>T	20.37:g.25038603G>A	ENSP00000316924:p.Pro46Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.P46S	ENST00000323482.4	37	c.136	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200522	0.58126	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.20738	2.05;2.05;2.05	3.03	-0.512	0.11966	.	2.143740	0.02374	N	0.078169	T	0.10294	0.0252	N	0.08118	0	0.54753	D	0.999984	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.32214	-0.9915	10	0.25106	T	0.35	-18.9136	3.1168	0.06377	0.2837:0.23:0.4862:0.0	.	46;46;46	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	S	46	ENSP00000316924:P46S;ENSP00000388793:P46S;ENSP00000365916:P46S	ENSP00000316924:P46S	P	-	1	0	ACSS1	24986603	0.060000	0.20803	0.110000	0.21437	0.131000	0.20780	0.118000	0.15605	0.151000	0.19162	0.313000	0.20887	CCC	ACSS1	-	NULL		0.781	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	G	NM_032501		25038603	-1	no_errors	ENST00000323482	ensembl	human	known	70_37	missense	SNP	0.744	A
ACTB	60	genome.wustl.edu	37	7	5566884	5566884	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:5566884C>T	ENST00000331789.5	-	0	1814				ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTTCATACATCTCAAGTTGGG	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.*495G>A	7.37:g.5566884C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	RNA	SNP	-	NULL	ENST00000331789.5	37	NULL	CCDS5341.1	7																																																																																			ACTB	-	-		0.428	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	C	NM_001101		5566884	-1	no_errors	ENST00000464611	ensembl	human	known	70_37	rna	SNP	0.998	T
ACTB	60	genome.wustl.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	348					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587																																																	0													71.0	74.0	73.0					7																	5567464		2203	4300	6503	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1043C>G	7.37:g.5567464G>C	ENSP00000349960:p.Ser348Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S348W	ENST00000331789.5	37	c.1043	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005489	0.54254	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95588	-3.75	5.55	4.66	0.58398	.	0.000000	0.53938	D	0.000041	D	0.98782	0.9590	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98652	1.0680	10	0.87932	D	0	.	13.966	0.64209	0.0744:0.0:0.9255:0.0	.	348	P60709	ACTB_HUMAN	W	348;324;320;267	ENSP00000349960:S348W	ENSP00000440549:S267W	S	-	2	0	ACTB	5533990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.617000	0.88574	0.650000	0.86243	TCG	ACTB	-	pfam_Actin-like,smart_Actin-like		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	G	NM_001101		5567464	-1	no_errors	ENST00000331789	ensembl	human	known	70_37	missense	SNP	1.000	C
ACTBL2	345651	genome.wustl.edu	37	5	56778051	56778051	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:56778051G>C	ENST00000423391.1	-	1	585	c.484C>G	c.(484-486)Cac>Gac	p.H162D	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	162				H -> L (in Ref. 4; AAX82259). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.H162N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGCACGATGTGAGTGACCCCA	0.552																																																	1	Substitution - Missense(1)	ovary(1)											103.0	88.0	93.0					5																	56778051		2203	4300	6503	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.484C>G	5.37:g.56778051G>C	ENSP00000416706:p.His162Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.H162D	ENST00000423391.1	37	c.484	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764010	0.49574	.	.	ENSG00000169067	ENST00000423391	T	0.08282	3.11	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000002	T	0.46171	0.1379	H	0.98426	4.23	0.58432	D	0.999991	D	0.53462	0.96	D	0.74348	0.983	T	0.66881	-0.5811	10	0.87932	D	0	.	15.3116	0.74039	0.0:0.0:1.0:0.0	.	162	Q562R1	ACTBL_HUMAN	D	162	ENSP00000416706:H162D	ENSP00000416706:H162D	H	-	1	0	ACTBL2	56813808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.452000	0.82932	0.655000	0.94253	CAC	ACTBL2	-	pfam_Actin-like,smart_Actin-like		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	G	NM_001017992		56778051	-1	no_errors	ENST00000423391	ensembl	human	known	70_37	missense	SNP	1.000	C
ACTR8	93973	genome.wustl.edu	37	3	53911703	53911703	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:53911703G>A	ENST00000335754.3	-	4	581	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	ACTR8_ENST00000482349.1_Missense_Mutation_p.H50Y|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	161					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCAGGGTGATGAGATGTGTTT	0.393																																																	0													105.0	98.0	100.0					3																	53911703		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.481C>T	3.37:g.53911703G>A	ENSP00000336842:p.His161Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.H161Y	ENST00000335754.3	37	c.481	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964650	0.53507	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.40756	1.02;1.02	5.88	5.88	0.94601	.	0.095702	0.64402	D	0.000001	T	0.42539	0.1207	L	0.54323	1.7	0.80722	D	1	P	0.41546	0.754	B	0.40864	0.342	T	0.35500	-0.9786	10	0.52906	T	0.07	0.0173	14.2635	0.66099	0.0:0.0:0.8424:0.1576	.	161	Q9H981	ARP8_HUMAN	Y	161;50;50	ENSP00000336842:H161Y;ENSP00000419429:H50Y	ENSP00000336842:H161Y	H	-	1	0	ACTR8	53886743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.914000	0.69964	2.779000	0.95612	0.650000	0.86243	CAT	ACTR8	-	pfam_Actin-like,smart_Actin-like		0.393	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	G	NM_022899		53911703	-1	no_errors	ENST00000335754	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM15	8751	genome.wustl.edu	37	1	155030783	155030783	+	Missense_Mutation	SNP	A	A	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155030783A>T	ENST00000356955.2	+	15	1884	c.1783A>T	c.(1783-1785)Atc>Ttc	p.I595F	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.I595F|ADAM15_ENST00000368413.1_Missense_Mutation_p.I301F|ADAM15_ENST00000531455.1_Missense_Mutation_p.I605F|ADAM15_ENST00000271836.6_Missense_Mutation_p.I595F|ADAM15_ENST00000355956.2_Missense_Mutation_p.I595F|ADAM15_ENST00000359280.4_Missense_Mutation_p.I595F|ADAM15_ENST00000368410.2_Missense_Mutation_p.I301F|ADAM15_ENST00000449910.2_Missense_Mutation_p.I595F|ADAM15_ENST00000447332.3_Missense_Mutation_p.I579F|ADAM15_ENST00000360674.4_Missense_Mutation_p.I595F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	595	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			GCTGGGCTCCATCCGGGATCT	0.602																																																	0													44.0	44.0	44.0					1																	155030783		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1783A>T	1.37:g.155030783A>T	ENSP00000349436:p.Ile595Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I595F	ENST00000356955.2	37	c.1783	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	A	4.351	0.064542	0.08388	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.37	3.41	0.39046	ADAM, cysteine-rich (2);	0.700859	0.12284	N	0.482622	T	0.06325	0.0163	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.30634	0.213;0.213;0.192;0.127;0.27;0.288;0.288;0.178;0.001;0.213;0.213	B;B;B;B;B;B;B;B;B;B;B	0.37480	0.251;0.251;0.251;0.162;0.192;0.113;0.113;0.113;0.009;0.251;0.18	T	0.42378	-0.9455	10	0.10111	T	0.7	.	8.9887	0.36010	0.0824:0.149:0.7686:0.0	.	605;612;579;595;595;595;595;595;595;595;592	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	F	595;595;595;595;595;595;301;595;301;605	ENSP00000349436:I595F;ENSP00000403843:I595F;ENSP00000352226:I595F;ENSP00000353892:I595F;ENSP00000357397:I595F;ENSP00000348227:I595F;ENSP00000357395:I301F;ENSP00000271836:I595F;ENSP00000357398:I301F;ENSP00000432927:I605F	ENSP00000271836:I595F	I	+	1	0	ADAM15	153297407	0.712000	0.27916	0.002000	0.10522	0.004000	0.04260	3.984000	0.56923	0.819000	0.34492	-0.182000	0.12963	ATC	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.602	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	A	NM_003815		155030783	+1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.004	T
ADAM15	8751	genome.wustl.edu	37	1	155030785	155030785	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155030785C>T	ENST00000356955.2	+	15	1886	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Silent_p.I595I|ADAM15_ENST00000368413.1_Silent_p.I301I|ADAM15_ENST00000531455.1_Silent_p.I605I|ADAM15_ENST00000271836.6_Silent_p.I595I|ADAM15_ENST00000355956.2_Silent_p.I595I|ADAM15_ENST00000359280.4_Silent_p.I595I|ADAM15_ENST00000368410.2_Silent_p.I301I|ADAM15_ENST00000449910.2_Silent_p.I595I|ADAM15_ENST00000447332.3_Silent_p.I579I|ADAM15_ENST00000360674.4_Silent_p.I595I	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	595	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			TGGGCTCCATCCGGGATCTAC	0.597																																																	0													45.0	45.0	45.0					1																	155030785		2203	4300	6503	SO:0001819	synonymous_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1785C>T	1.37:g.155030785C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I595	ENST00000356955.2	37	c.1785	CCDS1087.1	1																																																																																			ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155030785	+1	no_errors	ENST00000356955	ensembl	human	known	70_37	silent	SNP	0.001	T
ADAMTS5	11096	genome.wustl.edu	37	21	28315804	28315804	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:28315804C>T	ENST00000284987.5	-	3	1421	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	434	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTTATCTTCTGTGGAACCA	0.453																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													106.0	94.0	98.0					21																	28315804		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1300G>A	21.37:g.28315804C>T	ENSP00000284987:p.Glu434Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.E434K	ENST00000284987.5	37	c.1300	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454116	0.26161	.	.	ENSG00000154736	ENST00000284987	D	0.86366	-2.11	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.161315	0.64402	D	0.000014	T	0.71937	0.3399	N	0.03608	-0.345	0.34512	D	0.707241	B	0.27823	0.19	B	0.24006	0.05	T	0.70737	-0.4790	10	0.07030	T	0.85	.	19.4373	0.94801	0.0:1.0:0.0:0.0	.	434	Q9UNA0	ATS5_HUMAN	K	434	ENSP00000284987:E434K	ENSP00000284987:E434K	E	-	1	0	ADAMTS5	27237675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.499000	0.66937	2.828000	0.97474	0.650000	0.86243	GAA	ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.453	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	C			28315804	-1	no_errors	ENST00000284987	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCY10	55811	genome.wustl.edu	37	1	167823649	167823649	+	Silent	SNP	G	G	C	rs143102400		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:167823649G>C	ENST00000367851.4	-	18	2434	c.2250C>G	c.(2248-2250)ctC>ctG	p.L750L	ADCY10_ENST00000545172.1_Silent_p.L597L|ADCY10_ENST00000367848.1_Silent_p.L658L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	750					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTTGGAAAACGAGTACCTCAT	0.443																																																	0													163.0	152.0	156.0					1																	167823649		2203	4300	6503	SO:0001819	synonymous_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2250C>G	1.37:g.167823649G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L750	ENST00000367851.4	37	c.2250	CCDS1265.1	1																																																																																			ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167823649	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	silent	SNP	0.000	C
ADCY4	196883	genome.wustl.edu	37	14	24798280	24798280	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:24798280G>C	ENST00000310677.4	-	11	1624	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	ADCY4_ENST00000396747.3_Missense_Mutation_p.S197C|ADCY4_ENST00000418030.2_Missense_Mutation_p.S504C|ADCY4_ENST00000554068.2_Missense_Mutation_p.S504C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	504					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)		GAGAGGGGTGGAGGTGGACAC	0.617																																																	0													125.0	141.0	136.0					14																	24798280		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.1511C>G	14.37:g.24798280G>C	ENSP00000312126:p.Ser504Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	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.S504C	ENST00000310677.4	37	c.1511	CCDS9627.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880765|3.880765	0.72294|0.72294	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000556932|ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	.|T;T;T;T	.|0.77358	.|-1.09;-1.09;-1.09;-1.09	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.000000	.|0.44285	.|D	.|0.000466	T|T	0.67126|0.67126	0.2860|0.2860	N|N	0.22421|0.22421	0.69|0.69	0.42567|0.42567	D|D	0.993169|0.993169	.|B	.|0.06786	.|0.001	.|B	.|0.14023	.|0.01	T|T	0.66011|0.66011	-0.6029|-0.6029	5|10	.|0.62326	.|D	.|0.03	.|.	15.197|15.197	0.73100|0.73100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|504	.|Q8NFM4	.|ADCY4_HUMAN	A|C	77|504;504;504;197	.|ENSP00000312126:S504C;ENSP00000452250:S504C;ENSP00000393177:S504C;ENSP00000379971:S197C	.|ENSP00000312126:S504C	P|S	-|-	1|2	0|0	ADCY4|ADCY4	23868120|23868120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.249000|6.249000	0.72427|0.72427	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	CCA|TCC	ADCY4	-	pfam_Adenylate_cyclase-like		0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24798280	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	missense	SNP	1.000	C
ADCY9	115	genome.wustl.edu	37	16	4039091	4039091	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4039091C>G	ENST00000294016.3	-	6	2752	c.2214G>C	c.(2212-2214)atG>atC	p.M738I	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	738					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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGTAATCTTTCATCAGGCTAG	0.448																																																	0													91.0	85.0	87.0					16																	4039091		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2214G>C	16.37:g.4039091C>G	ENSP00000294016:p.Met738Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.M738I	ENST00000294016.3	37	c.2214	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	c	33	5.233064	0.95207	.	.	ENSG00000162104	ENST00000294016	D	0.83163	-1.69	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	L	0.55481	1.735	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	D	0.86629	0.1884	10	0.35671	T	0.21	.	20.5643	0.99342	0.0:1.0:0.0:0.0	.	738	O60503	ADCY9_HUMAN	I	738	ENSP00000294016:M738I	ENSP00000294016:M738I	M	-	3	0	ADCY9	3979092	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.815000	0.86186	2.869000	0.98440	0.556000	0.70494	ATG	ADCY9	-	NULL		0.448	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4039091	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	G
ADRA1A	148	genome.wustl.edu	37	8	26722241	26722241	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:26722241G>A	ENST00000519229.1	-	1	252	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ADRA1A_ENST00000276393.4_Silent_p.F82F|ADRA1A_ENST00000380581.2_Silent_p.F82F|ADRA1A_ENST00000354550.4_Silent_p.F82F|ADRA1A_ENST00000380572.3_Silent_p.F82F|ADRA1A_ENST00000358857.5_Silent_p.F82F|ADRA1A_ENST00000380573.3_Silent_p.F82F|ADRA1A_ENST00000380582.3_Silent_p.F82F|ADRA1A_ENST00000380587.1_Silent_p.F82F|ADRA1A_ENST00000380586.1_Silent_p.F82F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	152				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGATGGCGGAGAAGGGCAGCA	0.622																																																	0													167.0	165.0	166.0					8																	26722241		2203	4300	6503	SO:0001819	synonymous_variant	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.246C>T	8.37:g.26722241G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NPY0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.F82	ENST00000519229.1	37	c.246		8																																																																																			ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt		0.622	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	G	NM_033303		26722241	-1	no_errors	ENST00000380586	ensembl	human	known	70_37	silent	SNP	1.000	A
ADRB1	153	genome.wustl.edu	37	10	115804371	115804371	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:115804371C>T	ENST00000369295.2	+	1	566	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	160					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	ACCTCGCCATCACCTCGCCCT	0.677																																																	0													72.0	79.0	77.0					10																	115804371		2203	4300	6503	SO:0001819	synonymous_variant	153			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.480C>T	10.37:g.115804371C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B1,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt	p.I160	ENST00000369295.2	37	c.480	CCDS7586.1	10																																																																																			ADRB1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT6_rcpt		0.677	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB1	HGNC	protein_coding	OTTHUMT00000050448.1	C			115804371	+1	no_errors	ENST00000369295	ensembl	human	known	70_37	silent	SNP	1.000	T
ADRBK1	156	genome.wustl.edu	37	11	67050286	67050286	+	Silent	SNP	G	G	A	rs138968014	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:67050286G>A	ENST00000308595.5	+	14	1514	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGACGCTGACGATGGTGGGTG	0.602																																																	0								G		0,4400		0,0,2200	41.0	37.0	38.0		1224	-9.4	0.4	11	dbSNP_134	38	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		408/690	67050286	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1224G>A	11.37:g.67050286G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBE1|Q13837|Q6GTT3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.T408	ENST00000308595.5	37	c.1224	CCDS8156.1	11																																																																																			ADRBK1	-	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		0.602	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67050286	+1	no_errors	ENST00000308595	ensembl	human	known	70_37	silent	SNP	0.891	A
ADRM1	11047	genome.wustl.edu	37	20	60882684	60882684	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:60882684C>T	ENST00000253003.2	+	7	702	c.656C>T	c.(655-657)tCa>tTa	p.S219L	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	219	Ser-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GTCACCCCGTCATCCACCACC	0.701																																																	0													36.0	36.0	36.0					20																	60882684		2197	4296	6493	SO:0001583	missense	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.656C>T	20.37:g.60882684C>T	ENSP00000253003:p.Ser219Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.S219L	ENST00000253003.2	37	c.656	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022024	0.54576	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.25	5.25	0.73442	.	0.222920	0.45867	D	0.000328	T	0.59932	0.2230	L	0.56769	1.78	0.50467	D	0.999877	P	0.44044	0.825	B	0.43413	0.419	T	0.65919	-0.6051	9	0.72032	D	0.01	-21.7972	16.6322	0.85037	0.0:1.0:0.0:0.0	.	219	Q16186	ADRM1_HUMAN	L	198;219	.	ENSP00000253003:S219L	S	+	2	0	ADRM1	60316079	0.999000	0.42202	0.976000	0.42696	0.432000	0.31715	5.188000	0.65093	2.451000	0.82905	0.561000	0.74099	TCA	ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13		0.701	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	C			60882684	+1	no_errors	ENST00000253003	ensembl	human	known	70_37	missense	SNP	1.000	T
ADSS	159	genome.wustl.edu	37	1	244586142	244586143	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:244586142_244586143insTT	ENST00000366535.3	-	7	973_974	c.657_658insAA	c.(655-660)aaactcfs	p.L220fs	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			ATTACCTTGAGTTTTTGTAATT	0.337																																																	0																																										SO:0001589	frameshift_variant	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.656_657dupAA	1.37:g.244586145_244586146dupTT	ENSP00000355493:p.Leu220fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.L219fs	ENST00000366535.3	37	c.658_657	CCDS1624.1	1																																																																																			ADSS	-	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase		0.337	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	HGNC	protein_coding	OTTHUMT00000096697.1	-	NM_001126		244586143	-1	no_errors	ENST00000366535	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	TT
AFF1	4299	genome.wustl.edu	37	4	88048811	88048811	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88048811C>T	ENST00000307808.6	+	15	3319	c.2899C>T	c.(2899-2901)Cac>Tac	p.H967Y	AFF1_ENST00000544085.1_Missense_Mutation_p.H605Y|AFF1_ENST00000395146.4_Missense_Mutation_p.H974Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	967					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCAGACCTTCACATGAGGGA	0.378																																																	0													132.0	121.0	125.0					4																	88048811		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2899C>T	4.37:g.88048811C>T	ENSP00000305689:p.His967Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H974Y	ENST00000307808.6	37	c.2920	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749464	0.15778	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.58060	0.36;0.36;0.36	4.94	4.1	0.47936	.	0.277921	0.31290	N	0.007909	T	0.25865	0.0630	N	0.05383	-0.06	0.37232	D	0.905736	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.14023	0.01;0.01;0.01	T	0.20273	-1.0280	10	0.02654	T	1	-16.9425	9.3757	0.38281	0.0:0.829:0.0:0.171	.	974;967;967	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	Y	974;967;605	ENSP00000378578:H974Y;ENSP00000305689:H967Y;ENSP00000440843:H605Y	ENSP00000305689:H967Y	H	+	1	0	AFF1	88267835	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.005000	0.29834	1.201000	0.43203	0.655000	0.94253	CAC	AFF1	-	pfam_TF_AF4/FMR2		0.378	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	C	NM_005935		88048811	+1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	1.000	T
AGAP5	729092	genome.wustl.edu	37	10	75434741	75434741	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75434741C>G	ENST00000374094.4	-	8	1717	c.1677G>C	c.(1675-1677)acG>acC	p.T559T	RP11-464F9.21_ENST00000607450.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Silent_p.T536T	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	559	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TCTCTTCCCTCGTGGACTTTA	0.547																																																	0													6.0	15.0	12.0					10																	75434741		360	919	1279	SO:0001819	synonymous_variant	729092				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1677G>C	10.37:g.75434741C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSN5	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.T559	ENST00000374094.4	37	c.1677	CCDS44439.1	10																																																																																			AGAP5	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP		0.547	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP5	HGNC	protein_coding		C	XM_001132585		75434741	-1	no_errors	ENST00000374094	ensembl	human	known	70_37	silent	SNP	0.989	G
AGAP5	729092	genome.wustl.edu	37	10	75434831	75434831	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75434831C>T	ENST00000374094.4	-	8	1627	c.1587G>A	c.(1585-1587)agG>agA	p.R529R	RP11-464F9.21_ENST00000607450.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Silent_p.R506R	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	529	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACATAACCTTCCTGAGCTCAA	0.537																																																	0													1.0	1.0	1.0					10																	75434831		6	35	41	SO:0001819	synonymous_variant	729092				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1587G>A	10.37:g.75434831C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSN5	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R529	ENST00000374094.4	37	c.1587	CCDS44439.1	10																																																																																			AGAP5	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.537	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP5	HGNC	protein_coding		C	XM_001132585		75434831	-1	no_errors	ENST00000374094	ensembl	human	known	70_37	silent	SNP	0.921	T
AGMAT	79814	genome.wustl.edu	37	1	15905370	15905370	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:15905370C>T	ENST00000375826.3	-	4	846	c.704G>A	c.(703-705)aGa>aAa	p.R235K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	235					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGTTGTATCTGTAGGGATC	0.617																																					NSCLC(126;1678 1780 25805 43508 49531)												0													60.0	60.0	60.0					1																	15905370		2203	4300	6503	SO:0001583	missense	79814			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.704G>A	1.37:g.15905370C>T	ENSP00000364986:p.Arg235Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.R235K	ENST00000375826.3	37	c.704	CCDS160.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274498	0.40194	.	.	ENSG00000116771	ENST00000375826	D	0.83506	-1.73	5.87	2.64	0.31445	Ureohydrolase domain (1);	0.294856	0.39407	N	0.001363	T	0.51991	0.1707	N	0.01081	-1.03	0.26525	N	0.974352	B	0.02656	0.0	B	0.09377	0.004	T	0.45308	-0.9270	10	0.23891	T	0.37	-1.6023	5.0627	0.14566	0.0:0.5817:0.1785:0.2398	.	235	Q9BSE5	SPEB_HUMAN	K	235	ENSP00000364986:R235K	ENSP00000364986:R235K	R	-	2	0	AGMAT	15777957	0.886000	0.30341	1.000000	0.80357	0.991000	0.79684	0.951000	0.29135	0.830000	0.34757	0.650000	0.86243	AGA	AGMAT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel		0.617	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	HGNC	protein_coding	OTTHUMT00000006763.1	C	NM_024758		15905370	-1	no_errors	ENST00000375826	ensembl	human	known	70_37	missense	SNP	0.961	T
AGPAT9	84803	genome.wustl.edu	37	4	84465744	84465744	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:84465744C>G	ENST00000395226.2	+	3	415	c.197C>G	c.(196-198)tCt>tGt	p.S66C	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S66C	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	66					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTAAAAACTCTGCTTCTGTT	0.358																																																	0													176.0	186.0	182.0					4																	84465744		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.197C>G	4.37:g.84465744C>G	ENSP00000378651:p.Ser66Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S66C	ENST00000395226.2	37	c.197	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632409	0.46944	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.47177	0.85;0.85	5.13	5.13	0.70059	.	0.352305	0.30347	N	0.009821	T	0.45316	0.1336	M	0.68952	2.095	0.33055	D	0.53332	P	0.41643	0.758	B	0.36186	0.219	T	0.63825	-0.6549	10	0.46703	T	0.11	-1.8697	14.0293	0.64606	0.0:1.0:0.0:0.0	.	66	Q53EU6	GPAT3_HUMAN	C	66	ENSP00000378651:S66C;ENSP00000264409:S66C	ENSP00000264409:S66C	S	+	2	0	AGPAT9	84684768	0.984000	0.35163	0.913000	0.36048	0.684000	0.39900	3.714000	0.54889	2.682000	0.91365	0.549000	0.68633	TCT	AGPAT9	-	NULL		0.358	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	C	NM_032717		84465744	+1	no_errors	ENST00000264409	ensembl	human	known	70_37	missense	SNP	0.813	G
AHNAK	79026	genome.wustl.edu	37	11	62286537	62286537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:62286537G>A	ENST00000378024.4	-	5	15626	c.15352C>T	c.(15352-15354)Cag>Tag	p.Q5118*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5118					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGTGCCTGGAGTTCACCC	0.483																																																	0													71.0	73.0	73.0					11																	62286537		2202	4299	6501	SO:0001587	stop_gained	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15352C>T	11.37:g.62286537G>A	ENSP00000367263:p.Gln5118*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A586	Nonsense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q5118*	ENST00000378024.4	37	c.15352	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	56	25.210659	0.99964	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.88	3.93	0.45458	.	0.502262	0.16606	N	0.207129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5947	8.4098	0.32636	0.0:0.1334:0.441:0.4256	.	.	.	.	X	5118	.	ENSP00000367263:Q5118X	Q	-	1	0	AHNAK	62043113	0.999000	0.42202	1.000000	0.80357	0.644000	0.38419	1.407000	0.34657	1.117000	0.41842	0.542000	0.68232	CAG	AHNAK	-	NULL		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	G	NM_024060		62286537	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	nonsense	SNP	0.947	A
AIFM1	9131	genome.wustl.edu	37	X	129281546	129281546	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:129281546G>A	ENST00000287295.3	-	5	757	c.527C>T	c.(526-528)tCa>tTa	p.S176L	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.S89L|AIFM1_ENST00000319908.3_Missense_Mutation_p.S172L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	176	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CAGTTCTTTTGAAAGAGGAGG	0.408																																																	0													130.0	112.0	118.0					X																	129281546		2203	4300	6503	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.527C>T	X.37:g.129281546G>A	ENSP00000287295:p.Ser176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase	p.S176L	ENST00000287295.3	37	c.527	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.235366	0.95207	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.44482	0.92;0.92;0.92	5.02	5.02	0.67125	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84175	0.0436	10	0.87932	D	0	-7.3508	17.501	0.87732	0.0:0.0:1.0:0.0	.	176;172;176	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	L	172;89;176	ENSP00000315122:S172L;ENSP00000446113:S89L;ENSP00000287295:S176L	ENSP00000287295:S176L	S	-	2	0	AIFM1	129109227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.217000	0.95160	2.317000	0.78254	0.544000	0.68410	TCA	AIFM1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.408	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	HGNC	protein_coding	OTTHUMT00000058247.2	G			129281546	-1	no_errors	ENST00000287295	ensembl	human	known	70_37	missense	SNP	1.000	A
AKAP11	11215	genome.wustl.edu	37	13	42876786	42876786	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:42876786G>A	ENST00000025301.2	+	8	4079	c.3904G>A	c.(3904-3906)Gag>Aag	p.E1302K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1302					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TAAAGTAGAAGAGAAGTTGGA	0.373																																																	0													71.0	72.0	72.0					13																	42876786		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3904G>A	13.37:g.42876786G>A	ENSP00000025301:p.Glu1302Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.E1302K	ENST00000025301.2	37	c.3904	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930041	0.34096	.	.	ENSG00000023516	ENST00000025301	T	0.55413	0.52	5.75	3.93	0.45458	.	0.303397	0.25701	N	0.028871	T	0.49081	0.1536	M	0.71581	2.175	0.38832	D	0.955879	B	0.15141	0.012	B	0.16722	0.016	T	0.47509	-0.9112	10	0.19590	T	0.45	.	11.1621	0.48522	0.069:0.1283:0.8027:0.0	.	1302	Q9UKA4	AKA11_HUMAN	K	1302	ENSP00000025301:E1302K	ENSP00000025301:E1302K	E	+	1	0	AKAP11	41774786	1.000000	0.71417	0.691000	0.30163	0.025000	0.11179	2.736000	0.47385	1.441000	0.47550	-0.140000	0.14226	GAG	AKAP11	-	NULL		0.373	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	G	NM_016248		42876786	+1	no_errors	ENST00000025301	ensembl	human	known	70_37	missense	SNP	0.995	A
AKAP13	11214	genome.wustl.edu	37	15	86261378	86261378	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:86261378G>A	ENST00000394518.2	+	22	6084	c.5989G>A	c.(5989-5991)Gaa>Aaa	p.E1997K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E2001K|AKAP13_ENST00000394510.2_Missense_Mutation_p.E242K|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1997	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAACGGCAAGAAGTAATATA	0.363																																					Melanoma(94;603 1453 3280 32295 32951)												0													94.0	91.0	92.0					15																	86261378		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5989G>A	15.37:g.86261378G>A	ENSP00000378026:p.Glu1997Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E2001K	ENST00000394518.2	37	c.6001	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.390220	0.95988	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.69175	-0.38;-0.38;-0.38	5.65	5.65	0.86999	Dbl homology (DH) domain (3);	.	.	.	.	T	0.77922	0.4203	L	0.48935	1.535	0.54753	D	0.999984	P;D;D	0.76494	0.952;0.999;0.999	P;D;D	0.69479	0.6;0.922;0.964	T	0.78705	-0.2100	9	0.87932	D	0	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	1977;1997;2001	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	K	77;2001;1997;2000;1976;242	ENSP00000354718:E2001K;ENSP00000378026:E1997K;ENSP00000378018:E242K	ENSP00000354718:E2001K	E	+	1	0	AKAP13	84062382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.420000	0.97426	2.824000	0.97209	0.655000	0.94253	GAA	AKAP13	-	superfamily_DH-domain,pfscan_DH-domain		0.363	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86261378	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	A
AKAP8L	26993	genome.wustl.edu	37	19	15511673	15511673	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15511673C>T	ENST00000397410.5	-	7	1046	c.916G>A	c.(916-918)Gag>Aag	p.E306K	AKAP8L_ENST00000595465.2_Missense_Mutation_p.E245K|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	306						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCGGTGCCCTCATCTGAAAGG	0.602																																																	0													48.0	52.0	50.0					19																	15511673		2028	4162	6190	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.916G>A	19.37:g.15511673C>T	ENSP00000380557:p.Glu306Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.E306K	ENST00000397410.5	37	c.916	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492917	0.84962	.	.	ENSG00000011243	ENST00000397410	T	0.45668	0.89	4.81	4.81	0.61882	.	0.641670	0.16211	N	0.224499	T	0.36908	0.0984	L	0.38175	1.15	0.32953	D	0.519943	B;B;B;B	0.32245	0.155;0.361;0.361;0.155	B;B;B;B	0.34652	0.023;0.133;0.187;0.023	T	0.52704	-0.8540	10	0.51188	T	0.08	-10.6659	13.4048	0.60906	0.0:1.0:0.0:0.0	.	245;76;306;306	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	K	306	ENSP00000380557:E306K	ENSP00000380557:E306K	E	-	1	0	AKAP8L	15372673	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	4.041000	0.57339	2.231000	0.72958	0.561000	0.74099	GAG	AKAP8L	-	NULL		0.602	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	C	NM_014371		15511673	-1	no_errors	ENST00000397410	ensembl	human	known	70_37	missense	SNP	1.000	T
AK9	221264	genome.wustl.edu	37	6	109931583	109931583	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:109931583C>T	ENST00000424296.2	-	17	1903	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	AK9_ENST00000368948.2_Silent_p.Q609Q|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	609					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CAAGGACTTCCTGTAAGATTT	0.333																																																	0													128.0	106.0	113.0					6																	109931583		692	1591	2283	SO:0001819	synonymous_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1827G>A	6.37:g.109931583C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.Q609	ENST00000424296.2	37	c.1827	CCDS55048.1	6																																																																																			AKD1	-	NULL		0.333	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109931583	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	silent	SNP	0.372	T
AKIP1	56672	genome.wustl.edu	37	11	8934037	8934037	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:8934037G>C	ENST00000309377.4	+	3	350	c.260G>C	c.(259-261)aGa>aCa	p.R87T	AKIP1_ENST00000396648.2_Intron|AKIP1_ENST00000525005.1_Missense_Mutation_p.R87T|AKIP1_ENST00000529876.1_Intron|AKIP1_ENST00000534506.1_Intron|AKIP1_ENST00000309357.4_Missense_Mutation_p.R87T|AKIP1_ENST00000534147.1_Missense_Mutation_p.R87T|AKIP1_ENST00000299576.5_Intron|ST5_ENST00000534127.1_5'Flank	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	87					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						GCTTCCTTCAGAACAATGGCT	0.458																																																	0													119.0	105.0	110.0					11																	8934037		2201	4296	6497	SO:0001583	missense	56672			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.260G>C	11.37:g.8934037G>C	ENSP00000310459:p.Arg87Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	NULL	p.R87T	ENST00000309377.4	37	c.260	CCDS7793.1	11	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037542	0.54896	.	.	ENSG00000166452	ENST00000309377;ENST00000309357;ENST00000525005;ENST00000524577;ENST00000534147	T;T;T;T;T	0.33438	1.49;1.5;1.41;1.42;1.49	5.21	2.14	0.27477	.	0.342605	0.29066	N	0.013255	T	0.42471	0.1204	M	0.68317	2.08	0.22737	N	0.998799	D;P;D	0.76494	0.999;0.844;0.989	D;P;P	0.66351	0.943;0.528;0.836	T	0.11616	-1.0580	10	0.33940	T	0.23	-4.889	4.3807	0.11293	0.1996:0.189:0.6114:0.0	.	87;87;87	B4DGE2;Q9NQ31-2;Q9NQ31	.;.;AKIP1_HUMAN	T	87	ENSP00000310459:R87T;ENSP00000310644:R87T;ENSP00000433510:R87T;ENSP00000434785:R87T;ENSP00000431331:R87T	ENSP00000310644:R87T	R	+	2	0	AKIP1	8890613	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.546000	0.23284	1.336000	0.45506	0.563000	0.77884	AGA	AKIP1	-	NULL		0.458	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKIP1	HGNC	protein_coding	OTTHUMT00000385615.1	G	NM_020642		8934037	+1	no_errors	ENST00000309377	ensembl	human	known	70_37	missense	SNP	0.997	C
AKT3	10000	genome.wustl.edu	37	1	243858901	243858901	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:243858901G>A	ENST00000366539.1	-	3	364	c.164C>T	c.(163-165)tCa>tTa	p.S55L	AKT3_ENST00000336199.5_Missense_Mutation_p.S55L|AKT3_ENST00000263826.5_Missense_Mutation_p.S55L|AKT3_ENST00000366540.1_Missense_Mutation_p.S55L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	55	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ACTTGCCACTGAAAAGTTGTT	0.328																																																	0													61.0	63.0	63.0					1																	243858901		2201	4299	6500	SO:0001583	missense	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.164C>T	1.37:g.243858901G>A	ENSP00000355497:p.Ser55Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.S55L	ENST00000366539.1	37	c.164	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.435448	0.96150	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.60012	1.86	0.80722	D	1	B;B	0.24092	0.097;0.039	B;B	0.33254	0.16;0.099	T	0.51505	-0.8697	10	0.54805	T	0.06	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	55;55	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	L	55	ENSP00000336943:S55L;ENSP00000355498:S55L;ENSP00000355497:S55L;ENSP00000263826:S55L;ENSP00000447820:S55L	ENSP00000263826:S55L	S	-	2	0	AKT3	241925524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	TCA	AKT3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.328	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	G	NM_181690		243858901	-1	no_errors	ENST00000263826	ensembl	human	known	70_37	missense	SNP	1.000	A
ALDH18A1	5832	genome.wustl.edu	37	10	97373741	97373741	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:97373741C>G	ENST00000371224.2	-	14	1920	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.D593H	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	595	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GTGACCTTATCAACACTGGCC	0.498																																																	0													141.0	138.0	139.0					10																	97373741		2203	4300	6503	SO:0001583	missense	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1783G>C	10.37:g.97373741C>G	ENSP00000360268:p.Asp595His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.D595H	ENST00000371224.2	37	c.1783	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061850	0.36373	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75154	-0.91;-0.91	5.83	5.83	0.93111	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.041871	0.85682	D	0.000000	T	0.79947	0.4534	M	0.86343	2.81	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.18871	0.023;0.013	T	0.77645	-0.2510	10	0.87932	D	0	-17.0174	17.6123	0.88058	0.0:1.0:0.0:0.0	.	595;593	P54886;P54886-2	P5CS_HUMAN;.	H	595;593	ENSP00000360268:D595H;ENSP00000360265:D593H	ENSP00000360265:D593H	D	-	1	0	ALDH18A1	97363731	1.000000	0.71417	0.850000	0.33497	0.172000	0.22775	7.301000	0.78850	2.769000	0.95229	0.655000	0.94253	GAT	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase		0.498	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	C	NM_002860		97373741	-1	no_errors	ENST00000371224	ensembl	human	known	70_37	missense	SNP	1.000	G
ALDH1L2	160428	genome.wustl.edu	37	12	105433558	105433558	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:105433558C>G	ENST00000258494.9	-	17	2118	c.1978G>C	c.(1978-1980)Gaa>Caa	p.E660Q	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	660	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCAGGATGTTCAGACAGACGT	0.453																																																	0													177.0	162.0	167.0					12																	105433558		2203	4300	6503	SO:0001583	missense	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1978G>C	12.37:g.105433558C>G	ENSP00000258494:p.Glu660Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E660Q	ENST00000258494.9	37	c.1978	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433784	0.43224	.	.	ENSG00000136010	ENST00000258494	T	0.16457	2.34	5.44	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.148678	0.64402	N	0.000012	T	0.10637	0.0260	N	0.13299	0.325	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.10520	-1.0626	10	0.37606	T	0.19	.	11.1064	0.48205	0.0:0.7946:0.1334:0.072	.	660	Q3SY69	AL1L2_HUMAN	Q	660	ENSP00000258494:E660Q	ENSP00000258494:E660Q	E	-	1	0	ALDH1L2	103957688	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.792000	0.62467	1.253000	0.44018	0.460000	0.39030	GAA	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH		0.453	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	C	XM_090294		105433558	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	missense	SNP	1.000	G
ALDH9A1	223	genome.wustl.edu	37	1	165667639	165667639	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:165667639C>G	ENST00000354775.4	-	1	461	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ALDH9A1_ENST00000538148.1_5'Flank|ALDH9A1_ENST00000461664.1_5'UTR|RP11-466F5.6_ENST00000400982.2_RNA	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	29					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAAGCTTTCTCGGTACCGGAG	0.701																																					Ovarian(179;1583 2014 18106 33801 42447)												0													15.0	21.0	19.0					1																	165667639		2178	4250	6428	SO:0001583	missense	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.157G>C	1.37:g.165667639C>G	ENSP00000346827:p.Glu53Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E53Q	ENST00000354775.4	37	c.157	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158264	0.38119	.	.	ENSG00000143149	ENST00000354775	T	0.75704	-0.96	4.69	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	N	0.17723	0.515	0.45852	D	0.998711	P	0.40731	0.728	B	0.30401	0.115	T	0.41179	-0.9523	9	0.87932	D	0	.	9.1746	0.37105	0.0:0.8963:0.0:0.1037	.	53	B9EKV4	.	Q	53	ENSP00000346827:E53Q	ENSP00000346827:E53Q	E	-	1	0	ALDH9A1	163934263	0.998000	0.40836	0.994000	0.49952	0.597000	0.36814	3.513000	0.53414	0.930000	0.37217	0.655000	0.94253	GAG	ALDH9A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.701	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	C			165667639	-1	no_errors	ENST00000354775	ensembl	human	known	70_37	missense	SNP	0.994	G
FAM86B3P	286042	genome.wustl.edu	37	8	8097804	8097804	+	RNA	SNP	G	G	C	rs371198897	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:8097804G>C	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CCTGTTTCTAGACAGCACTCT	0.552																																																	0																																												0					8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8097804G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000310542.3	37	NULL		8																																																																																			ALG1L13P	-	-		0.552	FAM86B3P-005	KNOWN	basic	processed_transcript	ALG1L13P	HGNC	pseudogene	OTTHUMT00000448496.1	G			8097804	-1	no_errors	ENST00000522393	ensembl	human	known	70_37	rna	SNP	0.005	C
ALKBH8	91801	genome.wustl.edu	37	11	107375622	107375622	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:107375622G>C	ENST00000428149.2	-	12	1908	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	ALKBH8_ENST00000417449.2_Missense_Mutation_p.S589C|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000389568.3_Missense_Mutation_p.S586C	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	586	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AGAATAAAAAGAAGTCCTGTT	0.458																																																	0													83.0	73.0	76.0					11																	107375622		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1757C>G	11.37:g.107375622G>C	ENSP00000415885:p.Ser586Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.S589C	ENST00000428149.2	37	c.1766	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444988	0.43429	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.46819	0.86;0.86;0.86	5.51	3.48	0.39840	.	0.267550	0.43579	N	0.000543	T	0.38772	0.1053	L	0.38531	1.155	0.37151	D	0.902167	B;B	0.15473	0.007;0.013	B;B	0.15870	0.006;0.014	T	0.41034	-0.9531	10	0.41790	T	0.15	-13.1458	14.4674	0.67492	0.0:0.2898:0.7102:0.0	.	586;589	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	C	586;586;589	ENSP00000415885:S586C;ENSP00000374219:S586C;ENSP00000397673:S589C	ENSP00000374219:S586C	S	-	2	0	ALKBH8	106880832	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	3.119000	0.50422	1.293000	0.44690	0.650000	0.86243	TCT	ALKBH8	-	NULL		0.458	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	G	NM_138775		107375622	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	missense	SNP	0.997	C
ALMS1	7840	genome.wustl.edu	37	2	73828372	73828372	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:73828372G>A	ENST00000264448.6	+	19	12031	c.11920G>A	c.(11920-11922)Gaa>Aaa	p.E3974K	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.E3932K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3974					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATCAAAGAAGGAAAACGTGCC	0.468																																																	0													112.0	123.0	119.0					2																	73828372		2188	4296	6484	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11920G>A	2.37:g.73828372G>A	ENSP00000264448:p.Glu3974Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E3974K	ENST00000264448.6	37	c.11920	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339135	0.81911	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.10477	2.87;2.87	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000010	T	0.27313	0.0670	L	0.46157	1.445	0.44289	D	0.99715	D;D	0.71674	0.996;0.998	D;D	0.80764	0.974;0.994	T	0.00271	-1.1859	10	0.72032	D	0.01	.	16.2168	0.82237	0.0:0.0:1.0:0.0	.	3932;3974	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	K	3932;3974	ENSP00000386627:E3932K;ENSP00000264448:E3974K	ENSP00000264448:E3974K	E	+	1	0	ALMS1	73681880	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	6.756000	0.74919	2.701000	0.92244	0.561000	0.74099	GAA	ALMS1	-	NULL		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73828372	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	1.000	A
ALOX5	240	genome.wustl.edu	37	10	45938983	45938983	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:45938983C>G	ENST00000374391.2	+	11	1624	c.1571C>G	c.(1570-1572)tCa>tGa	p.S524*	ALOX5_ENST00000542434.1_Nonsense_Mutation_p.S524*|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	524	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CGCAAGTCCTCAGGTAGGGCC	0.701																																																	0													45.0	44.0	44.0					10																	45938983		2203	4300	6503	SO:0001587	stop_gained	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1571C>G	10.37:g.45938983C>G	ENSP00000363512:p.Ser524*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Nonsense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.S524*	ENST00000374391.2	37	c.1571	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.081264	0.98051	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	.	.	.	5.26	5.26	0.73747	.	0.240105	0.42682	D	0.000662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.1937	16.4095	0.83703	0.0:1.0:0.0:0.0	.	.	.	.	X	524	.	ENSP00000363512:S524X	S	+	2	0	ALOX5	45258989	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.581000	0.53914	2.735000	0.93741	0.655000	0.94253	TCA	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C		0.701	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	C			45938983	+1	no_errors	ENST00000374391	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ALPK2	115701	genome.wustl.edu	37	18	56278936	56278936	+	Missense_Mutation	SNP	G	G	A	rs113027270		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:56278936G>A	ENST00000361673.3	-	2	307	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	32	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTATGCAGCGAAGCACAGCG	0.463																																																	0													134.0	131.0	132.0					18																	56278936		1851	4106	5957	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.94C>T	18.37:g.56278936G>A	ENSP00000354991:p.Arg32Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.R32C	ENST00000361673.3	37	c.94	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602930	0.66445	.	.	ENSG00000198796	ENST00000361673	T	0.68025	-0.3	5.5	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73682	0.3618	L	0.50847	1.595	0.40786	D	0.983217	D	0.89917	1.0	D	0.79784	0.993	T	0.75204	-0.3400	9	0.72032	D	0.01	-5.9807	7.4976	0.27498	0.1683:0.0:0.8317:0.0	.	32	Q86TB3	ALPK2_HUMAN	C	32	ENSP00000354991:R32C	ENSP00000354991:R32C	R	-	1	0	ALPK2	54429916	0.998000	0.40836	1.000000	0.80357	0.841000	0.47740	2.695000	0.47043	2.592000	0.87571	0.591000	0.81541	CGC	ALPK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56278936	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.998	A
AMACR	23600	genome.wustl.edu	37	5	34004690	34004690	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:34004690C>T	ENST00000335606.6	-	3	629	c.541G>A	c.(541-543)Gat>Aat	p.D181N	AMACR_ENST00000382068.3_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.D181N|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000426255.2_Missense_Mutation_p.D181N|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.D181N|AMACR_ENST00000502637.1_Missense_Mutation_p.D181N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	181					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATATTTGCATCAATGACCTGA	0.438																																																	0													158.0	141.0	147.0					5																	34004690		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.541G>A	5.37:g.34004690C>T	ENSP00000334424:p.Asp181Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.D181N	ENST00000335606.6	37	c.541	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.525968	0.96431	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.60797	0.16;0.16;0.16	5.92	5.92	0.95590	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	H	0.97682	4.055	0.80722	D	1	D;D;D;D	0.69078	0.997;0.979;0.983;0.983	D;P;D;P	0.70016	0.967;0.84;0.943;0.831	D	0.89331	0.3647	10	0.62326	D	0.03	-32.4015	20.3206	0.98668	0.0:1.0:0.0:0.0	.	181;181;181;181	B3KMU8;F8W9N1;D6RB81;Q9UHK6	.;.;.;AMACR_HUMAN	N	181	ENSP00000334424:D181N;ENSP00000371517:D181N;ENSP00000424351:D181N	ENSP00000334424:D181N	D	-	1	0	AMACR	34040447	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.201000	0.77847	2.809000	0.96659	0.655000	0.94253	GAT	AMACR	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.438	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	C	NM_014324		34004690	-1	no_errors	ENST00000335606	ensembl	human	known	70_37	missense	SNP	1.000	T
AMACR	23600	genome.wustl.edu	37	5	34004818	34004818	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:34004818C>T	ENST00000335606.6	-	3	501	c.413G>A	c.(412-414)aGa>aAa	p.R138K	AMACR_ENST00000382068.3_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.R138K|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000426255.2_Missense_Mutation_p.R138K|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.R138K|AMACR_ENST00000502637.1_Missense_Mutation_p.R138K	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	138					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CTCACCACTTCTGCCAATTTT	0.393																																																	0													79.0	75.0	77.0					5																	34004818		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.413G>A	5.37:g.34004818C>T	ENSP00000334424:p.Arg138Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.R138K	ENST00000335606.6	37	c.413	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158902	0.38119	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.53640	0.61;0.61;0.61	5.92	3.13	0.36017	CoA-transferase family III domain (2);	0.538148	0.23680	N	0.045640	T	0.48390	0.1497	M	0.79011	2.435	0.80722	D	1	B;B;B;B	0.18013	0.02;0.02;0.025;0.025	B;B;B;B	0.29077	0.05;0.02;0.098;0.073	T	0.45308	-0.9270	10	0.66056	D	0.02	-1.2283	6.4696	0.22001	0.2573:0.6071:0.0:0.1356	.	138;138;138;138	B3KMU8;F8W9N1;D6RB81;Q9UHK6	.;.;.;AMACR_HUMAN	K	138	ENSP00000334424:R138K;ENSP00000371517:R138K;ENSP00000424351:R138K	ENSP00000334424:R138K	R	-	2	0	AMACR	34040575	0.740000	0.28207	0.418000	0.26571	0.363000	0.29612	1.108000	0.31123	0.377000	0.24735	0.655000	0.94253	AGA	AMACR	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.393	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	C	NM_014324		34004818	-1	no_errors	ENST00000335606	ensembl	human	known	70_37	missense	SNP	0.978	T
AMELX	265	genome.wustl.edu	37	X	11316904	11316904	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:11316904C>G	ENST00000380714.3	+	5	449	c.381C>G	c.(379-381)taC>taG	p.Y127*	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380712.3_Nonsense_Mutation_p.Y141*|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Nonsense_Mutation_p.Y111*|ARHGAP6_ENST00000380732.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	127					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AGCAGCCCTACCAGCCCCAGC	0.657																																																	0													72.0	63.0	66.0					X																	11316904		2203	4300	6503	SO:0001587	stop_gained	265				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.381C>G	X.37:g.11316904C>G	ENSP00000370090:p.Tyr127*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96NW6|Q9UCA7	Nonsense_Mutation	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.Y141*	ENST00000380714.3	37	c.423	CCDS14144.1	X	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328358	0.81690	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	.	.	.	4.71	4.71	0.59529	.	0.749920	0.12467	N	0.466362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	3.1086	9.7639	0.40548	0.0:0.8992:0.0:0.1008	.	.	.	.	X	127;141;111	.	ENSP00000335312:Y111X	Y	+	3	2	AMELX	11226825	0.910000	0.30920	0.991000	0.47740	0.898000	0.52572	1.566000	0.36396	2.086000	0.62901	0.415000	0.27848	TAC	AMELX	-	pfam_Amelogenin,smart_Amelogenin		0.657	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	C	NM_001142		11316904	+1	no_errors	ENST00000380712	ensembl	human	known	70_37	nonsense	SNP	0.994	G
AMN1	196394	genome.wustl.edu	37	12	31842023	31842023	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:31842023C>G	ENST00000281471.6	-	6	786	c.621G>C	c.(619-621)ctG>ctC	p.L207L	AMN1_ENST00000537562.1_Silent_p.L189L|AMN1_ENST00000536761.1_Silent_p.L189L|AMN1_ENST00000541931.1_Silent_p.L7L|AMN1_ENST00000542781.1_Silent_p.L7L	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	207										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCCCATCAGTCAGATTTACAC	0.353																																																	0													88.0	80.0	82.0					12																	31842023		1894	4113	6007	SO:0001819	synonymous_variant	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.621G>C	12.37:g.31842023C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7J3|Q6NVU4|Q86X98	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp	p.L207	ENST00000281471.6	37	c.621	CCDS44858.1	12																																																																																			AMN1	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.353	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMN1	HGNC	protein_coding	OTTHUMT00000402807.2	C	NR_004854		31842023	-1	no_errors	ENST00000281471	ensembl	human	known	70_37	silent	SNP	1.000	G
AMOT	154796	genome.wustl.edu	37	X	112054493	112054493	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:112054493G>C	ENST00000524145.1	-	4	1595	c.1521C>G	c.(1519-1521)ttC>ttG	p.F507L	AMOT_ENST00000304758.1_Missense_Mutation_p.F98L|AMOT_ENST00000371962.1_Missense_Mutation_p.F275L|AMOT_ENST00000371958.1_Missense_Mutation_p.F275L|AMOT_ENST00000371959.3_Missense_Mutation_p.F507L			Q4VCS5	AMOT_HUMAN	angiomotin	507					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GATCCCTGTTGAAATCATGCA	0.507																																																	0													252.0	212.0	226.0					X																	112054493		2203	4300	6503	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1521C>G	X.37:g.112054493G>C	ENSP00000429013:p.Phe507Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.F507L	ENST00000524145.1	37	c.1521	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515306	0.44763	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	6.08	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.58354	1.805	0.48975	D	0.999737	D	0.69078	0.997	D	0.75020	0.985	T	0.37572	-0.9700	10	0.06365	T	0.9	-14.3566	8.6425	0.33985	0.3058:0.0:0.6942:0.0	.	507	Q4VCS5	AMOT_HUMAN	L	98;507;275;507;275	ENSP00000305557:F98L;ENSP00000361027:F507L;ENSP00000361030:F275L;ENSP00000429013:F507L;ENSP00000361026:F275L	ENSP00000305557:F98L	F	-	3	2	AMOT	111941149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.728000	0.62000	0.681000	0.31386	0.600000	0.82982	TTC	AMOT	-	superfamily_Prefoldin,prints_Angiomotin		0.507	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112054493	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	missense	SNP	1.000	C
AMZ2P1	201283	genome.wustl.edu	37	17	62969059	62969059	+	RNA	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:62969059G>C	ENST00000430983.1	-	0	1290					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TAATATGGAAGAACATTTAAA	0.323																																																	0																																												201283			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969059G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-		0.323	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	G	NM_153032		62969059	-1	no_errors	ENST00000397713	ensembl	human	known	70_37	rna	SNP	0.000	C
ANAPC5	51433	genome.wustl.edu	37	12	121757584	121757584	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:121757584C>G	ENST00000261819.3	-	13	1674	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T	ANAPC5_ENST00000344395.4_Missense_Mutation_p.R406T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R406T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R184T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R505T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	518					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTCATTGCTCTGTCAAACTG	0.328																																																	0													81.0	73.0	75.0					12																	121757584		2203	4298	6501	SO:0001583	missense	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1553G>C	12.37:g.121757584C>G	ENSP00000261819:p.Arg518Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.R518T	ENST00000261819.3	37	c.1553	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712448	0.68730	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	4.35	0.52113	.	0.048021	0.85682	D	0.000000	T	0.64549	0.2608	L	0.53249	1.67	0.80722	D	1	B;B;D;P	0.60160	0.449;0.277;0.987;0.624	B;B;P;B	0.54544	0.265;0.175;0.755;0.162	T	0.68625	-0.5359	9	0.87932	D	0	.	13.0122	0.58737	0.0:0.9221:0.0:0.0779	.	184;120;406;518	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	406;505;518;184;120;406	.	ENSP00000261819:R518T	R	-	2	0	ANAPC5	120241967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.338000	0.45544	0.563000	0.77884	AGA	ANAPC5	-	NULL		0.328	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	C			121757584	-1	no_errors	ENST00000261819	ensembl	human	known	70_37	missense	SNP	1.000	G
ANHX	647589	genome.wustl.edu	37	12	133810919	133810919	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:133810919C>G	ENST00000545940.1	-	1	1762	c.24G>C	c.(22-24)ctG>ctC	p.L8L	ANHX_ENST00000419717.1_Silent_p.L8L			E9PGG2	ANHX_HUMAN	anomalous homeobox	8					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)										CATGCTCCTTCAGCAGAGTCA	0.597																																																	0																																										SO:0001819	synonymous_variant	647589				CCDS53855.1	12q24.33	2012-05-18			ENSG00000227059	ENSG00000227059			40024	protein-coding gene	gene with protein product							Standard	NM_001191054		Approved		uc010tci.2	E9PGG2	OTTHUMG00000167949	ENST00000545940.1:c.24G>C	12.37:g.133810919C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96MC1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L8	ENST00000545940.1	37	c.24	CCDS53855.1	12																																																																																			ANHX	-	NULL		0.597	ANHX-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ANHX	HGNC	protein_coding	OTTHUMT00000397203.1	C			133810919	-1	no_errors	ENST00000419717	ensembl	human	known	70_37	silent	SNP	0.331	G
ANKRD11	29123	genome.wustl.edu	37	16	89351174	89351174	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89351174C>T	ENST00000301030.4	-	9	2236	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	ANKRD11_ENST00000378330.2_Silent_p.V592V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	592					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCTCTTCCTCACTGGCTTCA	0.587																																																	0													24.0	26.0	25.0					16																	89351174		2198	4300	6498	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1776G>A	16.37:g.89351174C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V592	ENST00000301030.4	37	c.1776	CCDS32513.1	16																																																																																			ANKRD11	-	NULL		0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	C	NM_013275		89351174	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	silent	SNP	0.000	T
ANKRD20A4	728747	genome.wustl.edu	37	9	69423478	69423478	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:69423478C>A	ENST00000357336.3	+	15	2055	c.1774C>A	c.(1774-1776)Ctg>Atg	p.L592M		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	592										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CAATGCCGAACTGTTGAAGGA	0.388																																																	0													1.0	1.0	1.0					9																	69423478		73	239	312	SO:0001583	missense	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1774C>A	9.37:g.69423478C>A	ENSP00000349891:p.Leu592Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L592M	ENST00000357336.3	37	c.1774	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	C	6.504	0.461252	0.12342	.	.	ENSG00000172014	ENST00000357336	T	0.41758	0.99	2.26	1.3	0.21679	.	.	.	.	.	T	0.48943	0.1528	M	0.73962	2.25	0.09310	N	0.999994	D	0.69078	0.997	P	0.52386	0.697	T	0.39165	-0.9627	9	0.72032	D	0.01	.	4.5727	0.12217	0.0:0.6537:0.0:0.3463	.	592	Q4UJ75	A20A4_HUMAN	M	592	ENSP00000349891:L592M	ENSP00000349891:L592M	L	+	1	2	ANKRD20A4	68713298	0.978000	0.34361	0.007000	0.13788	0.006000	0.05464	0.035000	0.13797	0.275000	0.22094	0.184000	0.17185	CTG	ANKRD20A4	-	NULL		0.388	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	C	NM_001098805		69423478	+1	no_errors	ENST00000357336	ensembl	human	known	70_37	missense	SNP	0.656	A
ANKRD26	22852	genome.wustl.edu	37	10	27322178	27322178	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:27322178C>T	ENST00000376087.4	-	25	3948	c.3783G>A	c.(3781-3783)aaG>aaA	p.K1261K	ANKRD26_ENST00000436985.2_Silent_p.K1277K|ANKRD26_ENST00000376070.3_Silent_p.K818K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1260					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACCTAATTTCTTCTTTAAAT	0.294																																																	0													89.0	83.0	84.0					10																	27322178		1818	4082	5900	SO:0001819	synonymous_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3783G>A	10.37:g.27322178C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K1277	ENST00000376087.4	37	c.3831	CCDS41499.1	10																																																																																			ANKRD26	-	NULL		0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27322178	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	silent	SNP	0.889	T
ANKRD26P1	124149	genome.wustl.edu	37	16	46534343	46534343	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:46534343C>G	ENST00000571006.1	-	0	571							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TTAGGTTACTCATATCAAAAT	0.343																																																	0																																												124149			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46534343C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000571006.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.558150	0.00910	.	.	ENSG00000155319	ENST00000329373	.	.	.	2.11	-0.0783	0.13715	.	.	.	.	.	T	0.14960	0.0361	.	.	.	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.39014	-0.9634	6	0.02654	T	1	.	4.8617	0.13587	0.0:0.6322:0.2211:0.1467	.	137	Q68DM0	.	I	137	.	ENSP00000331873:M137I	M	-	3	0	ANKRD26P1	45091844	0.000000	0.05858	0.002000	0.10522	0.050000	0.14768	-1.839000	0.01686	0.010000	0.14839	0.313000	0.20887	ATG	ANKRD26P1	-	-		0.343	ANKRD26P1-007	KNOWN	basic	processed_transcript	ANKRD26P1	HGNC	pseudogene	OTTHUMT00000437932.1	C	NR_026556		46534343	-1	no_errors	ENST00000566201	ensembl	human	known	70_37	rna	SNP	0.008	G
ANKRD27	84079	genome.wustl.edu	37	19	33149898	33149898	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:33149898G>A	ENST00000306065.4	-	2	182	c.24C>T	c.(22-24)ctC>ctT	p.L8L	ANKRD27_ENST00000587352.1_Silent_p.L8L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	8					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GATTTTTCAGGAGGTCTTCAT	0.483																																																	0													87.0	82.0	84.0					19																	33149898		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.24C>T	19.37:g.33149898G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.L8	ENST00000306065.4	37	c.24	CCDS32986.1	19																																																																																			ANKRD27	-	NULL		0.483	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	G	NM_032139		33149898	-1	no_errors	ENST00000306065	ensembl	human	known	70_37	silent	SNP	1.000	A
ANKRD30B	374860	genome.wustl.edu	37	18	14778038	14778038	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:14778038C>G	ENST00000358984.4	+	10	1564	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.Q462E|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	462										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGCTACATATCAAAAAGATAT	0.274																																																	0													95.0	83.0	86.0					18																	14778038		692	1591	2283	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1384C>G	18.37:g.14778038C>G	ENSP00000351875:p.Gln462Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q462E	ENST00000358984.4	37	c.1384	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	1.740	-0.491980	0.04322	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.26810	3.33;1.71	1.15	0.13	0.14746	.	.	.	.	.	T	0.12008	0.0292	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.37361	-0.9709	9	0.06891	T	0.86	.	5.0075	0.14295	0.0:0.6135:0.3865:0.0	.	462	F8WAG3	.	E	462	ENSP00000351875:Q462E;ENSP00000399031:Q462E	ENSP00000351875:Q462E	Q	+	1	0	ANKRD30B	14768038	0.004000	0.15560	0.016000	0.15963	0.018000	0.09664	0.166000	0.16583	0.066000	0.16515	0.375000	0.23000	CAA	ANKRD30B	-	NULL		0.274	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	C	NM_001145029		14778038	+1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.019	G
ANKRD6	22881	genome.wustl.edu	37	6	90276740	90276740	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:90276740C>G	ENST00000522441.1	+	2	686	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000520793.1_Silent_p.L15L|ANKRD6_ENST00000447838.2_Silent_p.L15L|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000339746.4_Silent_p.L15L|ANKRD6_ENST00000485637.1_Silent_p.L15L|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_Silent_p.L15L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	15					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCGCCTTCTCGTAGCTGCGT	0.493																																																	0													54.0	54.0	54.0					6																	90276740		1971	4160	6131	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.45C>G	6.37:g.90276740C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L15	ENST00000522441.1	37	c.45	CCDS56441.1	6																																																																																			ANKRD6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt		0.493	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	C			90276740	+1	no_errors	ENST00000339746	ensembl	human	known	70_37	silent	SNP	1.000	G
ANO5	203859	genome.wustl.edu	37	11	22296234	22296234	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:22296234G>A	ENST00000324559.8	+	20	2672	c.2355G>A	c.(2353-2355)ctG>ctA	p.L785L	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	785					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTATTCCTGATAGCTGATT	0.403																																																	0													125.0	103.0	110.0					11																	22296234		2203	4300	6503	SO:0001819	synonymous_variant	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2355G>A	11.37:g.22296234G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Anoctamin	p.L785	ENST00000324559.8	37	c.2355	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin		0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	G	NM_213599		22296234	+1	no_errors	ENST00000324559	ensembl	human	known	70_37	silent	SNP	1.000	A
ANO8	57719	genome.wustl.edu	37	19	17441716	17441716	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:17441716C>G	ENST00000159087.4	-	8	1072	c.914G>C	c.(913-915)aGa>aCa	p.R305T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	305					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTCAGCCCCTCTCCGCTTCCA	0.602																																																	0													162.0	156.0	158.0					19																	17441716		2203	4300	6503	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.914G>C	19.37:g.17441716C>G	ENSP00000159087:p.Arg305Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.R305T	ENST00000159087.4	37	c.914	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	c	20.5	4.001425	0.74818	.	.	ENSG00000074855	ENST00000159087	T	0.66638	-0.22	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.69463	2.115	0.29291	N	0.869366	P	0.41910	0.764	P	0.52758	0.708	T	0.73167	-0.4068	10	0.48119	T	0.1	.	14.8688	0.70437	0.0:1.0:0.0:0.0	.	305	Q9HCE9	ANO8_HUMAN	T	305	ENSP00000159087:R305T	ENSP00000159087:R305T	R	-	2	0	ANO8	17302716	0.753000	0.28349	1.000000	0.80357	0.747000	0.42532	3.995000	0.57001	2.108000	0.64289	0.306000	0.20318	AGA	ANO8	-	pfam_Anoctamin		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	C	XM_050644		17441716	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	missense	SNP	0.996	G
ANO8	57719	genome.wustl.edu	37	19	17444512	17444512	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:17444512C>T	ENST00000159087.4	-	2	362	c.204G>A	c.(202-204)ctG>ctA	p.L68L	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	68					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L68L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGAAGGTCATCAGCACGTCGC	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											50.0	41.0	44.0					19																	17444512		2203	4300	6503	SO:0001819	synonymous_variant	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.204G>A	19.37:g.17444512C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIJ0	Silent	SNP	pfam_Anoctamin	p.L68	ENST00000159087.4	37	c.204	CCDS32949.1	19																																																																																			ANO8	-	NULL		0.627	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	C	XM_050644		17444512	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	silent	SNP	0.982	T
ANXA1	301	genome.wustl.edu	37	9	75783758	75783758	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:75783758G>A	ENST00000376911.1	+	11	1743				ANXA1_ENST00000491192.1_3'UTR|ANXA1_ENST00000257497.6_Intron			P04083	ANXA1_HUMAN	annexin A1						alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CGCTAATGTAGAGGATTATTT	0.378																																																	0																																										SO:0001627	intron_variant	301			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.862-190G>A	9.37:g.75783758G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000376911.1	37	NULL	CCDS6645.1	9																																																																																			ANXA1	-	-		0.378	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	HGNC	protein_coding	OTTHUMT00000052665.1	G	NM_000700		75783758	+1	no_errors	ENST00000491192	ensembl	human	known	70_37	rna	SNP	0.000	A
ANXA11	311	genome.wustl.edu	37	10	81923365	81923365	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:81923365G>C	ENST00000438331.1	-	11	1436	c.954C>G	c.(952-954)ttC>ttG	p.F318L	ANXA11_ENST00000537102.1_Missense_Mutation_p.F285L|ANXA11_ENST00000535999.1_Missense_Mutation_p.F318L|ANXA11_ENST00000422982.3_Missense_Mutation_p.F318L|ANXA11_ENST00000265447.4_Missense_Mutation_p.F318L|ANXA11_ENST00000360615.4_Missense_Mutation_p.F318L|ANXA11_ENST00000372231.3_Missense_Mutation_p.F318L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	318					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGGTCTTTTTGAATTCTGAAA	0.507																																																	0													34.0	35.0	35.0					10																	81923365		2184	4268	6452	SO:0001583	missense	311			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.954C>G	10.37:g.81923365G>C	ENSP00000398610:p.Phe318Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.F318L	ENST00000438331.1	37	c.954	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	17.88	3.497718	0.64186	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89;3.89;3.89	5.43	5.43	0.79202	Annexin repeat, conserved site (1);	0.241847	0.43416	D	0.000563	T	0.06600	0.0169	L	0.45581	1.43	0.35783	D	0.82176	P;P;P	0.38551	0.636;0.514;0.514	B;B;B	0.44044	0.439;0.183;0.183	T	0.11743	-1.0575	10	0.59425	D	0.04	.	10.5406	0.45031	0.0881:0.0:0.9119:0.0	.	418;318;318	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	L	318;318;318;318;318;318;318;225;285	ENSP00000361305:F318L;ENSP00000404412:F318L;ENSP00000398610:F318L;ENSP00000353827:F318L;ENSP00000265447:F318L;ENSP00000441748:F318L;ENSP00000441400:F285L	ENSP00000265447:F318L	F	-	3	2	ANXA11	81913345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.927000	0.40094	2.724000	0.93272	0.655000	0.94253	TTC	ANXA11	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.507	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	G	NM_145869		81923365	-1	no_errors	ENST00000265447	ensembl	human	known	70_37	missense	SNP	1.000	C
AOC2	314	genome.wustl.edu	37	17	41001113	41001113	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41001113C>G	ENST00000253799.3	+	2	1626	c.1599C>G	c.(1597-1599)aaC>aaG	p.N533K	AOC3_ENST00000308423.2_5'Flank|AOC2_ENST00000452774.2_Missense_Mutation_p.N533K	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	533					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGCTGAAAAACTGGGTGGTAG	0.602																																																	0													55.0	43.0	47.0					17																	41001113		2203	4300	6503	SO:0001583	missense	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1599C>G	17.37:g.41001113C>G	ENSP00000253799:p.Asn533Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.N533K	ENST00000253799.3	37	c.1599	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383007	0.61845	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.22945	1.93;1.93	5.05	4.02	0.46733	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	M	0.92317	3.295	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.62167	-0.6911	10	0.87932	D	0	-31.5377	8.1249	0.30992	0.0:0.7778:0.0:0.2222	.	533;533	O75106;O75106-2	AOC2_HUMAN;.	K	533	ENSP00000253799:N533K;ENSP00000406134:N533K	ENSP00000253799:N533K	N	+	3	2	AOC2	38254639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.053000	0.30442	2.624000	0.88883	0.655000	0.94253	AAC	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.602	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	C	NM_009590, NM_001158		41001113	+1	no_errors	ENST00000253799	ensembl	human	known	70_37	missense	SNP	1.000	G
AOC4P	90586	genome.wustl.edu	37	17	41019397	41019397	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41019397G>A	ENST00000585538.1	+	0	236					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		AATGTAAGCTGAACCAGCTTC	0.562																																																	0																																												90586					17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41019397G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000585538.1	37	NULL		17																																																																																			AOC4	-	-		0.562	AOC4P-006	KNOWN	basic	processed_transcript	AOC4	Clone_based_vega_gene	pseudogene	OTTHUMT00000452449.1	G			41019397	+1	no_errors	ENST00000585538	ensembl	human	known	70_37	rna	SNP	0.000	A
AOX2P	344454	genome.wustl.edu	37	2	201607083	201607083	+	IGR	SNP	G	G	C	rs192526861		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:201607083G>C								AC007163.3 (7183 upstream) : AOX2P (19947 downstream)																							ACATTTTCTTGCTGGGTTGGC	0.443																																																	0																																										SO:0001628	intergenic_variant	344454																															2.37:g.201607083G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			AOX2P	-	-	0	0.443					AOX2P	HGNC			G			201607083	+1	no_errors	ENST00000472376	ensembl	human	known	70_37	rna	SNP	0.483	C
AP1B1	162	genome.wustl.edu	37	22	29724828	29724828	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:29724828C>T	ENST00000405198.1	-	22	2863	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	AP1B1_ENST00000432560.2_Silent_p.E934E|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000357586.2_Silent_p.E944E|AP1B1_ENST00000415447.1_Silent_p.E934E|AP1B1_ENST00000356015.2_Silent_p.E937E|AP1B1_ENST00000317368.7_Silent_p.E914E|AP1B1_ENST00000402502.1_Silent_p.E934E			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	944					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGAGGATGGTCTCGTAGGCCT	0.667																																																	0													67.0	54.0	58.0					22																	29724828		2203	4299	6502	SO:0001819	synonymous_variant	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2832G>A	22.37:g.29724828C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.E944	ENST00000405198.1	37	c.2832	CCDS13855.1	22																																																																																			AP1B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	C	NM_001127		29724828	-1	no_errors	ENST00000357586	ensembl	human	known	70_37	silent	SNP	1.000	T
AP1G1	164	genome.wustl.edu	37	16	71841730	71841730	+	5'UTR	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:71841730C>A	ENST00000569748.1	-	0	837				AP1G1_ENST00000423132.2_Intron|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_5'UTR			O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TCTCCATGGACAGATTTCCGT	0.403																																																	0																																										SO:0001623	5_prime_UTR_variant	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000569748.1:c.-73G>T	16.37:g.71841730C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75709|O75842|Q9UG09|Q9Y3U4	RNA	SNP	-	NULL	ENST00000569748.1	37	NULL	CCDS32480.1	16																																																																																			AP1G1	-	-		0.403	AP1G1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434149.1	C			71841730	-1	no_errors	ENST00000570297	ensembl	human	known	70_37	rna	SNP	0.673	A
AP3D1	8943	genome.wustl.edu	37	19	2114814	2114814	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:2114814G>C	ENST00000345016.5	-	21	2587	c.2356C>G	c.(2356-2358)Ctg>Gtg	p.L786V	AP3D1_ENST00000356926.4_Missense_Mutation_p.L695V|AP3D1_ENST00000350812.6_Missense_Mutation_p.L617V|AP3D1_ENST00000355272.6_Missense_Mutation_p.L786V	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	786					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TCGCTGGGCAGAGCATTCTGA	0.587																																																	0													119.0	124.0	123.0					19																	2114814		2007	4181	6188	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2356C>G	19.37:g.2114814G>C	ENSP00000344055:p.Leu786Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.L786V	ENST00000345016.5	37	c.2356	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	G	2.826	-0.243813	0.05906	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000350812	T;T;T;T	0.62941	2.21;-0.01;1.66;-0.01	4.71	1.28	0.21552	.	0.000000	0.64402	D	0.000007	T	0.54902	0.1887	M	0.65320	2	0.46131	D	0.99888	B;B;B	0.25351	0.124;0.078;0.113	B;B;B	0.30401	0.052;0.115;0.032	T	0.41520	-0.9504	10	0.29301	T	0.29	-20.6032	7.6675	0.28439	0.4542:0.0:0.5458:0.0	.	786;786;695	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	V	695;786;786;617	ENSP00000349398:L695V;ENSP00000344055:L786V;ENSP00000347416:L786V;ENSP00000342321:L617V	ENSP00000344055:L786V	L	-	1	2	AP3D1	2065814	0.986000	0.35501	0.755000	0.31263	0.032000	0.12392	2.226000	0.42963	0.085000	0.17107	-0.369000	0.07265	CTG	AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu		0.587	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2114814	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	missense	SNP	0.784	C
AP3D1	8943	genome.wustl.edu	37	19	2121284	2121284	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:2121284G>A	ENST00000345016.5	-	13	1359	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	AP3D1_ENST00000356926.4_Silent_p.I285I|AP3D1_ENST00000350812.6_Silent_p.I207I|AP3D1_ENST00000355272.6_Silent_p.I376I|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	376					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCTTCTTCACGATCTCCATCA	0.557																																																	0													179.0	192.0	188.0					19																	2121284		2141	4247	6388	SO:0001819	synonymous_variant	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1128C>T	19.37:g.2121284G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.I376	ENST00000345016.5	37	c.1128	CCDS42459.1	19																																																																																			AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.557	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2121284	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	silent	SNP	0.375	A
AP2A1	160	genome.wustl.edu	37	19	50302075	50302075	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50302075G>C	ENST00000359032.5	+	8	831	c.831G>C	c.(829-831)aaG>aaC	p.K277N	AP2A1_ENST00000354293.5_Missense_Mutation_p.K277N	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CGGCTGTGAAGGGGCGGCTGG	0.637																																																	0													19.0	24.0	22.0					19																	50302075		1924	4123	6047	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.831G>C	19.37:g.50302075G>C	ENSP00000351926:p.Lys277Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.K277N	ENST00000359032.5	37	c.831	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103778	0.56291	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.26810	1.71;1.71	4.34	2.19	0.27852	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.29908	0.895	0.49687	D	0.999819	P;P	0.45634	0.597;0.863	P;P	0.49140	0.543;0.601	T	0.01757	-1.1280	10	0.37606	T	0.19	.	7.2485	0.26135	0.3054:0.0:0.6946:0.0	.	277;277	O95782-2;O95782	.;AP2A1_HUMAN	N	277	ENSP00000346246:K277N;ENSP00000351926:K277N	ENSP00000346246:K277N	K	+	3	2	AP2A1	54993887	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.703000	0.25646	0.553000	0.29044	0.561000	0.74099	AAG	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.637	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	G			50302075	+1	no_errors	ENST00000354293	ensembl	human	known	70_37	missense	SNP	1.000	C
AP4B1	10717	genome.wustl.edu	37	1	114440589	114440589	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:114440589G>A	ENST00000369569.1	-	7	1479				AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000256658.4_Intron|AP4B1_ENST00000369567.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGTACAAGAGCACAGGAT	0.498																																																	0													75.0	60.0	65.0					1																	114440589		2203	4300	6503	SO:0001627	intron_variant	100287722			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1199-24C>T	1.37:g.114440589G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	RNA	SNP	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1-AS1	-	-		0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1-AS1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114440589	+1	no_errors	ENST00000419536	ensembl	human	known	70_37	rna	SNP	0.000	A
AP4B1	10717	genome.wustl.edu	37	1	114445444	114445444	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:114445444C>G	ENST00000369569.1	-	2	434	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	AP4B1_ENST00000256658.4_Missense_Mutation_p.E52Q|AP4B1_ENST00000369566.3_Missense_Mutation_p.E52Q|AP4B1_ENST00000369567.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|DCLRE1B_ENST00000369563.3_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	52					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCACCATTTCCATAAAAACA	0.448																																																	0													132.0	112.0	119.0					1																	114445444		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.154G>C	1.37:g.114445444C>G	ENSP00000358582:p.Glu52Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.E52Q	ENST00000369569.1	37	c.154	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883913	0.91814	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.21	5.21	0.72293	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.40543	1.245	0.36447	D	0.865874	D;D	0.69078	0.997;0.997	D;D	0.68621	0.944;0.959	T	0.34329	-0.9833	10	0.72032	D	0.01	-12.6946	19.1427	0.93451	0.0:1.0:0.0:0.0	.	52;52	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	Q	52	ENSP00000358582:E52Q;ENSP00000256658:E52Q;ENSP00000358579:E52Q;ENSP00000358584:E52Q	ENSP00000256658:E52Q	E	-	1	0	AP4B1	114246967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.034000	0.76511	2.581000	0.87130	0.655000	0.94253	GAA	AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	C	NM_006594		114445444	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	missense	SNP	1.000	G
AP5B1	91056	genome.wustl.edu	37	11	65546419	65546419	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65546419C>G	ENST00000532090.2	-	2	1755	c.1545G>C	c.(1543-1545)ctG>ctC	p.L515L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	515					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGGGCTCCCTCAGCTCAGAGT	0.627																																																	0													25.0	29.0	27.0					11																	65546419		2046	4196	6242	SO:0001819	synonymous_variant	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1545G>C	11.37:g.65546419C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L515	ENST00000532090.2	37	c.1545	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.627	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	C	NM_138368		65546419	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	silent	SNP	0.788	G
AP5Z1	9907	genome.wustl.edu	37	7	4820830	4820830	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:4820830G>A	ENST00000348624.4	+	2	160	c.66G>A	c.(64-66)aaG>aaA	p.K22K	AP5Z1_ENST00000401897.1_Silent_p.K22K	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	22					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGAGCTGAAGAAGTTCTGTT	0.552																																																	0													58.0	63.0	62.0					7																	4820830		1938	4149	6087	SO:0001819	synonymous_variant	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.66G>A	7.37:g.4820830G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3X2|Q96H80	Silent	SNP	NULL	p.K22	ENST00000348624.4	37	c.66	CCDS47528.1	7																																																																																			AP5Z1	-	NULL		0.552	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	G			4820830	+1	no_errors	ENST00000348624	ensembl	human	known	70_37	silent	SNP	0.000	A
APC	324	genome.wustl.edu	37	5	112136975	112136975	+	Splice_Site	SNP	G	G	A	rs387906228		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:112136975G>A	ENST00000457016.1	+	8	1109		c.e8-1		APC_ENST00000257430.4_Splice_Site|APC_ENST00000508376.2_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATCTTAACAGAGGTCATCTC	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	large_intestine(1)	GRCh37	CS941417	APC	S							78.0	72.0	74.0					5																	112136975		2202	4300	6502	SO:0001630	splice_region_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.730-1G>A	5.37:g.112136975G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Splice_Site	SNP	-	e7-1	ENST00000457016.1	37	c.730-1	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142368	0.77888	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1327	0.93414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APC	112164874	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.060000	0.76692	2.516000	0.84829	0.585000	0.79938	.	APC	-	-		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038	Intron	112136975	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	splice_site	SNP	1.000	A
APLNR	187	genome.wustl.edu	37	11	57004286	57004286	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57004286C>T	ENST00000606794.1	-	1	389	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	65					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGAAGATATCAGCTGAGCGC	0.612																																																	0													75.0	68.0	70.0					11																	57004286		2201	4296	6497	SO:0001583	missense	187			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.193G>A	11.37:g.57004286C>T	ENSP00000475344:p.Asp65Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.D65N	ENST00000606794.1	37	c.193	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981922	0.53827	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	T	0.31510	1.49	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	N	0.25890	0.77	0.45046	D	0.998061	D	0.89917	1.0	D	0.75484	0.986	T	0.07731	-1.0757	10	0.02654	T	1	-32.3979	13.5485	0.61717	0.1559:0.8441:0.0:0.0	.	65	P35414	APJ_HUMAN	N	65;30	ENSP00000257254:D65N	ENSP00000257254:D65N	D	-	1	0	APLNR	56760862	0.998000	0.40836	0.993000	0.49108	0.794000	0.44872	3.720000	0.54933	2.486000	0.83907	0.561000	0.74099	GAT	APLNR	-	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	C	NM_005161		57004286	-1	no_errors	ENST00000257254	ensembl	human	known	70_37	missense	SNP	0.995	T
APOB	338	genome.wustl.edu	37	2	21230105	21230105	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:21230105C>G	ENST00000233242.1	-	26	9762	c.9635G>C	c.(9634-9636)aGa>aCa	p.R3212T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3212	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATTGTTTCTGTTTTTTTC	0.363																																																	0													47.0	48.0	48.0					2																	21230105		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9635G>C	2.37:g.21230105C>G	ENSP00000233242:p.Arg3212Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R3212T	ENST00000233242.1	37	c.9635	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	7.966	0.748007	0.15710	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38560	1.13	5.15	3.36	0.38483	.	0.328573	0.26446	N	0.024339	T	0.65270	0.2675	M	0.85462	2.755	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.68172	-0.5479	10	0.66056	D	0.02	.	11.6558	0.51318	0.0:0.8543:0.0:0.1457	.	3212	P04114	APOB_HUMAN	T	3212	ENSP00000233242:R3212T	ENSP00000233242:R3212T	R	-	2	0	APOB	21083610	0.998000	0.40836	0.065000	0.19835	0.002000	0.02628	2.621000	0.46418	0.564000	0.29238	-0.253000	0.11424	AGA	APOB	-	NULL		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21230105	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	G
APOBEC3G	60489	genome.wustl.edu	37	22	39479792	39479792	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:39479792G>C	ENST00000407997.3	+	5	995	c.638G>C	c.(637-639)aGa>aCa	p.R213T	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R213T|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	213	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTTGGGTCAGAGGACGGCAT	0.532																																																	0													127.0	106.0	113.0					22																	39479792		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.638G>C	22.37:g.39479792G>C	ENSP00000385057:p.Arg213Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R213T	ENST00000407997.3	37	c.638	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.047715	0.00398	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.59906	0.23;0.23	1.44	-2.87	0.05700	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.41719	0.1171	L	0.45137	1.4	0.09310	N	1	B	0.22003	0.063	B	0.28638	0.092	T	0.16041	-1.0416	9	0.23302	T	0.38	.	2.107	0.03694	0.1171:0.1366:0.3782:0.3681	.	213	Q9HC16	ABC3G_HUMAN	T	213	ENSP00000413376:R213T;ENSP00000385057:R213T	ENSP00000385057:R213T	R	+	2	0	APOBEC3G	37809738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.972000	0.01502	-3.770000	0.00109	-2.573000	0.00170	AGA	APOBEC3G	-	pfam_APOBEC_N		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39479792	+1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	C
APOD	347	genome.wustl.edu	37	3	195295997	195295997	+	Missense_Mutation	SNP	G	G	A	rs5954		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:195295997G>A	ENST00000343267.3	-	5	705	c.344C>T	c.(343-345)tCg>tTg	p.S115L		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	115			S -> L (in dbSNP:rs5954). {ECO:0000269|PubMed:10391209}.		aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GTACGGTGCCGATGGCATAAC	0.512																																																	0													90.0	87.0	88.0					3																	195295997		2203	4300	6503	SO:0001583	missense	347				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.344C>T	3.37:g.195295997G>A	ENSP00000345179:p.Ser115Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac	p.S115L	ENST00000343267.3	37	c.344	CCDS33925.1	3	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154474	0.21371	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.30448	1.53;1.53;1.53	5.92	4.02	0.46733	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477428	0.24260	N	0.040090	T	0.23410	0.0566	L	0.39898	1.24	0.09310	N	1	P	0.39352	0.669	B	0.33196	0.159	T	0.10753	-1.0616	10	0.40728	T	0.16	-1.6329	13.017	0.58764	0.0:0.3074:0.6926:0.0	rs5954	115	P05090	APOD_HUMAN	L	115;143;115	ENSP00000345179:S115L;ENSP00000415235:S143L;ENSP00000393076:S115L	ENSP00000345179:S115L	S	-	2	0	APOD	196777286	0.000000	0.05858	0.009000	0.14445	0.133000	0.20885	0.808000	0.27154	1.456000	0.47831	0.561000	0.74099	TCG	APOD	-	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOD	HGNC	protein_coding	OTTHUMT00000342004.1	G	NM_001647		195295997	-1	no_errors	ENST00000343267	ensembl	human	known	70_37	missense	SNP	0.002	A
AQR	9716	genome.wustl.edu	37	15	35149043	35149043	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:35149043C>T	ENST00000156471.5	-	35	4633	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1470					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGTTAGCTTCTGCCGGTGCA	0.537																																																	0													112.0	112.0	112.0					15																	35149043		1992	4180	6172	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4408G>A	15.37:g.35149043C>T	ENSP00000156471:p.Glu1470Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.E1470K	ENST00000156471.5	37	c.4408	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096398	0.36952	.	.	ENSG00000021776	ENST00000543879	.	.	.	5.05	1.9	0.25705	.	1.191160	0.05996	N	0.646898	T	0.18045	0.0433	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	9	0.35671	T	0.21	-4.3933	2.2849	0.04124	0.1971:0.4974:0.1915:0.114	.	1470	O60306	AQR_HUMAN	K	1470	.	ENSP00000445700:E1470K	E	-	1	0	AQR	32936335	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.220000	0.09215	0.208000	0.20626	0.557000	0.71058	GAA	AQR	-	NULL		0.537	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	C	NM_014691		35149043	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	missense	SNP	0.002	T
AR	367	genome.wustl.edu	37	X	66905906	66905906	+	Missense_Mutation	SNP	G	G	A	rs137852573		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:66905906G>A	ENST00000374690.3	+	3	2347	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000396044.3_Missense_Mutation_p.R608Q|AR_ENST00000504326.1_Missense_Mutation_p.R608Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	607	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		R -> K (in PAIS and breast cancer; defective nuclear localization). {ECO:0000269|PubMed:1424203, ECO:0000269|PubMed:8281139, ECO:0000269|PubMed:9196614}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GATAAATTCCGAAGGAAAAAT	0.423									Androgen Insensitivity Syndrome																																								0			GRCh37	CM920073	AR	M	rs137852573						127.0	108.0	114.0					X																	66905906		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1823G>A	X.37:g.66905906G>A	ENSP00000363822:p.Arg608Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.R608Q	ENST00000374690.3	37	c.1823	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.375561	0.95923	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.28	5.28	0.74379	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	L	0.45352	1.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.998	D	0.98231	1.0483	10	0.87932	D	0	.	15.0966	0.72238	0.0:0.0:1.0:0.0	.	608;608;76;607	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Q	418;608;608;608;76	ENSP00000363822:R608Q;ENSP00000421155:R608Q;ENSP00000379359:R608Q;ENSP00000379358:R76Q	ENSP00000363822:R608Q	R	+	2	0	AR	66822631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.054000	0.93866	2.447000	0.82792	0.523000	0.50628	CGA	AR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.423	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66905906	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	A
ARCN1	372	genome.wustl.edu	37	11	118472585	118472585	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:118472585C>T	ENST00000264028.4	+	0	2787				ARCN1_ENST00000534182.2_3'UTR|ARCN1_ENST00000359415.4_3'UTR	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTAATCATGTCTGCTGCTGTT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.*1156C>T	11.37:g.118472585C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1X2|E9PEU4|Q52M80	RNA	SNP	-	NULL	ENST00000264028.4	37	NULL	CCDS8400.1	11																																																																																			ARCN1	-	-		0.408	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	C			118472585	+1	no_errors	ENST00000533452	ensembl	human	known	70_37	rna	SNP	0.988	T
ARGLU1	55082	genome.wustl.edu	37	13	107219979	107219979	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:107219979C>T	ENST00000400198.3	-	1	533	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	97	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCTGCTTCTCGTCCAGGCTG	0.701																																																	0													49.0	50.0	49.0					13																	107219979		2008	4192	6200	SO:0001583	missense	55082			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.289G>A	13.37:g.107219979C>T	ENSP00000383059:p.Glu97Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	NULL	p.E97K	ENST00000400198.3	37	c.289	CCDS41906.1	13	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635594	0.87760	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	T	0.21734	1.99	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	L	0.29908	0.895	0.80722	D	1	P	0.40931	0.733	B	0.30572	0.117	T	0.05989	-1.0852	10	0.49607	T	0.09	-8.2441	17.1444	0.86762	0.0:1.0:0.0:0.0	.	97	Q9NWB6	ARGL1_HUMAN	K	97;47	ENSP00000383059:E97K	ENSP00000383059:E97K	E	-	1	0	ARGLU1	106017980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.085000	0.76875	2.029000	0.59856	0.455000	0.32223	GAG	ARGLU1	-	NULL		0.701	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	HGNC	protein_coding	OTTHUMT00000045727.1	C	NM_018011		107219979	-1	no_errors	ENST00000400198	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP10	79658	genome.wustl.edu	37	4	148653506	148653506	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:148653506C>G	ENST00000336498.3	+	1	293	c.54C>G	c.(52-54)ttC>ttG	p.F18L		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCCCGTGGTTCCGGGAGAGGA	0.637																																																	0													39.0	38.0	38.0					4																	148653506		2203	4300	6503	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.54C>G	4.37:g.148653506C>G	ENSP00000336923:p.Phe18Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.F18L	ENST00000336498.3	37	c.54	CCDS34075.1	4	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340283	0.41398	.	.	ENSG00000071205	ENST00000336498	T	0.06371	3.31	4.25	4.25	0.50352	.	0.056940	0.64402	D	0.000001	T	0.09862	0.0242	M	0.67517	2.055	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.03545	-1.1026	10	0.59425	D	0.04	.	12.5625	0.56291	0.0:0.8319:0.1681:0.0	.	18	A1A4S6	RHG10_HUMAN	L	18	ENSP00000336923:F18L	ENSP00000336923:F18L	F	+	3	2	ARHGAP10	148872956	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	3.457000	0.53007	1.886000	0.54624	0.460000	0.39030	TTC	ARHGAP10	-	NULL		0.637	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1	C	NM_024605		148653506	+1	no_errors	ENST00000336498	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP17	55114	genome.wustl.edu	37	16	24942524	24942524	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:24942524C>T	ENST00000289968.6	-	19	2165	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R621Q	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	699	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGAGTACCTCCGGGGTGCTGA	0.667																																																	0													73.0	87.0	82.0					16																	24942524		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2096G>A	16.37:g.24942524C>T	ENSP00000289968:p.Arg699Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.R699Q	ENST00000289968.6	37	c.2096	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996680	0.93167	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.27402	1.67;1.94	4.41	4.41	0.53225	.	0.000000	0.40640	N	0.001046	T	0.54431	0.1858	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;1.0	D;D;D;D	0.80764	0.986;0.968;0.994;0.991	T	0.57619	-0.7780	10	0.48119	T	0.1	.	14.5023	0.67729	0.0:1.0:0.0:0.0	.	621;699;232;532	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	Q	699;621;699	ENSP00000289968:R699Q;ENSP00000303130:R621Q	ENSP00000289968:R699Q	R	-	2	0	ARHGAP17	24850025	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.072000	0.71238	1.979000	0.57680	0.462000	0.41574	CGG	ARHGAP17	-	NULL		0.667	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	C	NM_018054		24942524	-1	no_errors	ENST00000289968	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP36	158763	genome.wustl.edu	37	X	130220320	130220320	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:130220320G>A	ENST00000276211.5	+	10	1644	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	ARHGAP36_ENST00000370921.1_Silent_p.Q297Q|ARHGAP36_ENST00000370922.1_Silent_p.Q421Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	433					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCATATTCAGAGGCAGGTTG	0.458																																																	0													97.0	89.0	92.0					X																	130220320		2203	4300	6503	SO:0001819	synonymous_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1299G>A	X.37:g.130220320G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q433	ENST00000276211.5	37	c.1299	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL		0.458	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	G	NM_144967		130220320	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	silent	SNP	1.000	A
ARHGAP5	394	genome.wustl.edu	37	14	32560284	32560284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:32560284C>T	ENST00000345122.3	+	2	724	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.Q137*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.Q137*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.Q137*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	137					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCACTGATCAGCTAGGCTT	0.388																																					NSCLC(9;77 350 3443 29227 41353)												0													78.0	75.0	76.0					14																	32560284		2203	4299	6502	SO:0001587	stop_gained	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.409C>T	14.37:g.32560284C>T	ENSP00000371897:p.Gln137*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.Q137*	ENST00000345122.3	37	c.409	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451481	0.63290	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000371897:Q137X	Q	+	1	0	ARHGAP5	31630035	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	CAG	ARHGAP5	-	NULL		0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	C	NM_001030055		32560284	+1	no_errors	ENST00000345122	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PRR5	55615	genome.wustl.edu	37	22	45128203	45128203	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:45128203G>C	ENST00000336985.6	+	6	764	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E163Q|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E163Q|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.E186Q|PRR5_ENST00000006251.7_Missense_Mutation_p.E154Q	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	163					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TGTGAAGCTAGAGGATGCGCT	0.682																																																	0													56.0	50.0	52.0					22																	45128203		2203	4300	6503	SO:0001583	missense	23779			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.487G>C	22.37:g.45128203G>C	ENSP00000337464:p.Glu163Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.E163Q	ENST00000336985.6	37	c.487	CCDS14058.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929369|4.929369	0.92389|0.92389	.|.	.|.	ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000248405;ENSG00000241484|ENSG00000186654	ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985;ENST00000457960;ENST00000352766;ENST00000517296|ENST00000455389	T;T;T;T;T;T;T|.	0.75589|.	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.37136|.	N|.	0.002235|.	T|.	0.60314|.	0.2259|.	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D;D;P;P|.	0.76494|.	0.999;0.984;0.996;0.993;0.916;0.916|.	D;P;D;D;P;P|.	0.68943|.	0.961;0.741;0.93;0.914;0.741;0.741|.	T|.	0.56950|.	-0.7894|.	10|.	0.45353|.	T|.	0.12|.	.|.	14.5476|14.5476	0.68044|0.68044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127;186;62;163;163;163|.	B1AHF5;B1AHF6;P85299-2;B1AHC4;P85299;A8K699|.	.;.;.;.;PRR5_HUMAN;.|.	Q|Y	154;154;127;186;163;154;163;163|122	ENSP00000400925:E154Q;ENSP00000006251:E154Q;ENSP00000384848:E186Q;ENSP00000337464:E163Q;ENSP00000410215:E154Q;ENSP00000262731:E163Q;ENSP00000429240:E163Q|.	ENSP00000262731:E163Q|.	E|X	+|+	1|3	0|2	PRR5;PRR5-ARHGAP8;ARHGAP8|PRR5	43506867|43506867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.183000|8.183000	0.89700|0.89700	2.425000|2.425000	0.82216|0.82216	0.655000|0.655000	0.94253|0.94253	GAG|TAG	ARHGAP8	-	pfam_HbrB		0.682	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP8	HGNC	protein_coding	OTTHUMT00000318200.2	G	NM_001017528		45128203	+1	no_errors	ENST00000517296	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF19	128272	genome.wustl.edu	37	1	16528973	16528973	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16528973G>A	ENST00000270747.3	-	13	2140	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	668	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|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;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGAGGAGGAACACGTGGC	0.647																																																	0													55.0	47.0	50.0					1																	16528973		2203	4300	6503	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2004C>T	1.37:g.16528973G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F668	ENST00000270747.3	37	c.2004	CCDS170.1	1																																																																																			ARHGEF19	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.647	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16528973	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	silent	SNP	1.000	A
ARHGEF19	128272	genome.wustl.edu	37	1	16528979	16528979	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16528979G>C	ENST00000270747.3	-	13	2134	c.1998C>G	c.(1996-1998)caC>caG	p.H666Q	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	666	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|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;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAACACGTGGCCGGGGA	0.642																																																	0													56.0	48.0	51.0					1																	16528979		2203	4300	6503	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1998C>G	1.37:g.16528979G>C	ENSP00000270747:p.His666Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.H666Q	ENST00000270747.3	37	c.1998	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	g	12.32	1.903430	0.33628	.	.	ENSG00000142632	ENST00000270747	T	0.62639	0.01	4.81	-0.942	0.10398	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.278439	0.32386	N	0.006166	T	0.35219	0.0924	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.09840	-1.0656	10	0.56958	D	0.05	.	0.7197	0.00938	0.2866:0.2425:0.3145:0.1563	.	666	Q8IW93	ARHGJ_HUMAN	Q	666	ENSP00000270747:H666Q	ENSP00000270747:H666Q	H	-	3	2	ARHGEF19	16401566	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.350000	0.34010	0.212000	0.20703	0.461000	0.40582	CAC	ARHGEF19	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16528979	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	missense	SNP	0.997	C
ARHGEF2	9181	genome.wustl.edu	37	1	155917797	155917797	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155917797C>G	ENST00000361247.4	-	22	2996	c.2897G>C	c.(2896-2898)aGa>aCa	p.R966T	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R965T|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R938T|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R967T|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R938T|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R1011T	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	966					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCCTGCATTCTGGTAAAGTC	0.617																																					Melanoma(178;35 2768 6610 28839)												0													12.0	10.0	11.0					1																	155917797		1946	3697	5643	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2897G>C	1.37:g.155917797C>G	ENSP00000354837:p.Arg966Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R967T	ENST00000361247.4	37	c.2900	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416528	0.83449	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.72615	-0.66;-0.55;-0.56;-0.66;-0.67	5.22	5.22	0.72569	.	0.000000	0.39615	N	0.001303	T	0.68007	0.2954	N	0.19112	0.55	0.33156	D	0.546329	D;D;D;D	0.61080	0.981;0.981;0.989;0.981	D;D;D;D	0.72625	0.966;0.95;0.978;0.95	T	0.73547	-0.3948	10	0.87932	D	0	-6.8905	16.3224	0.82956	0.0:1.0:0.0:0.0	.	1010;966;965;967	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	T	938;966;967;938;965	ENSP00000315325:R938T;ENSP00000354837:R966T;ENSP00000357298:R967T;ENSP00000357299:R938T;ENSP00000314787:R965T	ENSP00000314787:R965T	R	-	2	0	ARHGEF2	154184421	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	4.261000	0.58841	2.713000	0.92767	0.655000	0.94253	AGA	ARHGEF2	-	NULL		0.617	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	C	NM_004723		155917797	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	missense	SNP	0.996	G
ARHGEF28	64283	genome.wustl.edu	37	5	73142140	73142140	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:73142140C>G	ENST00000426542.2	+	11	1495	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S179C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S492C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S492C|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S492C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S492C|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S492C			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	492					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GAAGGGCATTCTGAGCCATCC	0.493																																																	0													110.0	106.0	108.0					5																	73142140		1969	4168	6137	SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1475C>G	5.37:g.73142140C>G	ENSP00000412175:p.Ser492Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S492C	ENST00000426542.2	37	c.1475	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095833	0.36952	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.12672	2.88;2.86;2.87;2.66;2.86;2.87;2.72	5.69	4.82	0.62117	.	.	.	.	.	T	0.28167	0.0695	M	0.62723	1.935	0.09310	N	1	D;D;D;D;D	0.61080	0.964;0.972;0.972;0.989;0.971	B;P;P;P;P	0.56474	0.436;0.518;0.518;0.799;0.711	T	0.07424	-1.0773	9	0.59425	D	0.04	.	11.6282	0.51158	0.0:0.9164:0.0:0.0836	.	179;492;492;492;492	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	C	492;492;492;492;492;492;179	ENSP00000296794:S492C;ENSP00000441913:S492C;ENSP00000441436:S492C;ENSP00000287898:S492C;ENSP00000411459:S492C;ENSP00000412175:S492C;ENSP00000296799:S179C	ENSP00000287898:S492C	S	+	2	0	RP11-428C6.1	73177896	0.182000	0.23173	0.005000	0.12908	0.207000	0.24258	3.031000	0.49728	1.403000	0.46800	0.484000	0.47621	TCT	ARHGEF28	-	NULL		0.493	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	C			73142140	+1	no_errors	ENST00000545377	ensembl	human	known	70_37	missense	SNP	0.197	G
ARHGEF4	50649	genome.wustl.edu	37	2	131672828	131672828	+	5'Flank	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:131672828C>G	ENST00000326016.5	+	0	0				ARHGEF4_ENST00000409359.1_Missense_Mutation_p.L107V|ARHGEF4_ENST00000428230.2_5'Flank|ARHGEF4_ENST00000392953.3_5'Flank|ARHGEF4_ENST00000525839.1_5'Flank	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAGGTCATGTCTGGTGGCTTC	0.552																																																	0																																										SO:0001631	upstream_gene_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657		2.37:g.131672828C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	NULL	p.L107V	ENST00000326016.5	37	c.319	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985399	0.18889	.	.	ENSG00000136002	ENST00000409359	T	0.43688	0.94	4.65	2.7	0.31948	.	.	.	.	.	T	0.31009	0.0783	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.19386	-1.0307	5	.	.	.	.	4.9538	0.14029	0.208:0.6824:0.0:0.1096	.	.	.	.	V	107	ENSP00000386794:L107V	.	L	+	1	2	ARHGEF4	131389298	0.019000	0.18553	0.001000	0.08648	0.025000	0.11179	0.800000	0.27042	0.932000	0.37266	0.478000	0.44815	CTG	ARHGEF4	-	NULL		0.552	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	C			131672828	+1	no_errors	ENST00000409359	ensembl	human	putative	70_37	missense	SNP	0.001	G
ARID1A	8289	genome.wustl.edu	37	1	27099314	27099314	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:27099314C>T	ENST00000324856.7	+	14	3922	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	ARID1A_ENST00000457599.2_Missense_Mutation_p.S1184L|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Missense_Mutation_p.S801L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1184					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGAGCAATTCAGTTGGGATC	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													79.0	73.0	75.0					1																	27099314		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3551C>T	1.37:g.27099314C>T	ENSP00000320485:p.Ser1184Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1184L	ENST00000324856.7	37	c.3551	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668485	0.47677	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02837	4.4;4.14;4.22	5.24	5.24	0.73138	.	0.109682	0.64402	D	0.000008	T	0.13030	0.0316	L	0.55481	1.735	0.80722	D	1	D;D;P;P	0.67145	0.996;0.993;0.655;0.524	D;D;B;B	0.77557	0.99;0.977;0.194;0.095	T	0.00237	-1.1890	10	0.59425	D	0.04	-8.7348	19.0042	0.92843	0.0:1.0:0.0:0.0	.	801;1184;1184;837	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	L	1184;1184;801	ENSP00000320485:S1184L;ENSP00000387636:S1184L;ENSP00000363267:S801L	ENSP00000320485:S1184L	S	+	2	0	ARID1A	26971901	0.997000	0.39634	0.992000	0.48379	0.948000	0.59901	3.923000	0.56469	2.733000	0.93635	0.655000	0.94253	TCA	ARID1A	-	NULL		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27099314	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	0.998	T
ARID3A	1820	genome.wustl.edu	37	19	966846	966846	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:966846G>C	ENST00000263620.3	+	7	1800	c.1473G>C	c.(1471-1473)atG>atC	p.M491I		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	491	Homodimerization.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGCTGCCCATGAGCATTCGGA	0.597																																					Pancreas(29;54 1022 32760 50921)												0													49.0	52.0	51.0					19																	966846		2203	4300	6503	SO:0001583	missense	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1473G>C	19.37:g.966846G>C	ENSP00000263620:p.Met491Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M491I	ENST00000263620.3	37	c.1473	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911121	0.72983	.	.	ENSG00000116017	ENST00000263620	T	0.41065	1.01	4.98	4.98	0.66077	REKLES domain (1);	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.81341	2.54	0.80722	D	1	B	0.29988	0.264	B	0.30716	0.119	T	0.55335	-0.8157	10	0.54805	T	0.06	-38.8167	16.8388	0.85963	0.0:0.0:1.0:0.0	.	491	Q99856	ARI3A_HUMAN	I	491	ENSP00000263620:M491I	ENSP00000263620:M491I	M	+	3	0	ARID3A	917846	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.317000	0.78254	0.603000	0.83216	ATG	ARID3A	-	NULL		0.597	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	G	NM_005224		966846	+1	no_errors	ENST00000263620	ensembl	human	known	70_37	missense	SNP	1.000	C
ARID4A	5926	genome.wustl.edu	37	14	58768399	58768399	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:58768399G>A	ENST00000355431.3	+	3	481	c.108G>A	c.(106-108)gtG>gtA	p.V36V	ARID4A_ENST00000348476.3_Silent_p.V36V|ARID4A_ENST00000395168.3_Silent_p.V36V|ARID4A_ENST00000431317.2_Silent_p.V36V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	36					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGCTGGTGAAAGTTAAGG	0.418																																																	0													74.0	71.0	72.0					14																	58768399		2203	4300	6503	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.108G>A	14.37:g.58768399G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.V36	ENST00000355431.3	37	c.108	CCDS9732.1	14																																																																																			ARID4A	-	NULL		0.418	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58768399	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	silent	SNP	1.000	A
ARID4A	5926	genome.wustl.edu	37	14	58831712	58831712	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:58831712G>A	ENST00000355431.3	+	20	3278	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	ARID4A_ENST00000348476.3_Missense_Mutation_p.E969K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E969K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E969K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	969					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATTTGGATGAAAAGGATAA	0.418																																																	0													156.0	151.0	152.0					14																	58831712		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2905G>A	14.37:g.58831712G>A	ENSP00000347602:p.Glu969Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E969K	ENST00000355431.3	37	c.2905	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985079	0.74474	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.30182	1.95;1.8;1.78;1.8;1.54	5.16	5.16	0.70880	.	0.111045	0.64402	D	0.000012	T	0.42359	0.1199	M	0.63843	1.955	0.58432	D	0.999999	P;P;P	0.49559	0.925;0.682;0.787	P;B;B	0.47162	0.54;0.197;0.359	T	0.43669	-0.9377	10	0.87932	D	0	-20.0919	18.8307	0.92137	0.0:0.0:1.0:0.0	.	969;969;969	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	969;969;969;969;647	ENSP00000347602:E969K;ENSP00000344556:E969K;ENSP00000378597:E969K;ENSP00000397368:E969K;ENSP00000416053:E647K	ENSP00000344556:E969K	E	+	1	0	ARID4A	57901465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.664000	0.91139	2.687000	0.91594	0.557000	0.71058	GAA	ARID4A	-	NULL		0.418	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58831712	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	1.000	A
ARIH2	10425	genome.wustl.edu	37	3	49017054	49017054	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49017054C>T	ENST00000356401.4	+	12	1440	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	RP13-131K19.1_ENST00000415982.1_RNA|ARIH2_ENST00000449376.1_Silent_p.F367F|RP13-131K19.1_ENST00000429681.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	367					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AGTACTTATTCTACTTTGAGA	0.527																																																	0													122.0	98.0	106.0					3																	49017054		2203	4300	6503	SO:0001819	synonymous_variant	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.1101C>T	3.37:g.49017054C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBZ6|Q9UEM9	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.F367	ENST00000356401.4	37	c.1101	CCDS2780.1	3																																																																																			ARIH2	-	NULL		0.527	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	C	NM_006321		49017054	+1	no_errors	ENST00000356401	ensembl	human	known	70_37	silent	SNP	1.000	T
ARL4D	379	genome.wustl.edu	37	17	41477529	41477529	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41477529G>A	ENST00000320033.4	+	2	636	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	143					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L143L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGGGGCACTGAGCGCTGCTG	0.657																																																	1	Substitution - coding silent(1)	urinary_tract(1)											20.0	21.0	20.0					17																	41477529		2201	4299	6500	SO:0001819	synonymous_variant	379			AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.429G>A	17.37:g.41477529G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC59|D3DX43	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L143	ENST00000320033.4	37	c.429	CCDS11463.1	17																																																																																			ARL4D	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.657	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4D	HGNC	protein_coding	OTTHUMT00000453481.2	G	NM_001661		41477529	+1	no_errors	ENST00000320033	ensembl	human	known	70_37	silent	SNP	0.947	A
ARMC8	25852	genome.wustl.edu	37	3	137906440	137906440	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:137906440C>T	ENST00000469044.1	+	1	315	c.44C>T	c.(43-45)tCg>tTg	p.S15L	ARMC8_ENST00000489213.1_5'UTR|ARMC8_ENST00000491704.1_5'UTR|ARMC8_ENST00000481646.1_5'UTR|ARMC8_ENST00000470821.1_Splice_Site_p.S15L|ARMC8_ENST00000393058.3_Splice_Site_p.S5L|ARMC8_ENST00000461822.1_Splice_Site_p.S15L|ARMC8_ENST00000485396.1_5'UTR|ARMC8_ENST00000358441.2_5'UTR|ARMC8_ENST00000471453.1_5'UTR|ARMC8_ENST00000538260.1_Splice_Site_p.S15L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	15										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						AGCGTCCTTTCGGTGAGTGAc	0.706																																																	0																																										SO:0001630	splice_region_variant	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.45+1C>T	3.37:g.137906440C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S15L	ENST00000469044.1	37	c.44		3	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886966	0.72410	.	.	ENSG00000114098	ENST00000469044;ENST00000461600;ENST00000461822;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058;ENST00000463485	T;T;T;T;T;T;T	0.59083	0.29;2.46;0.29;2.19;2.23;0.32;0.32	5.36	5.36	0.76844	.	.	.	.	.	T	0.47525	0.1450	.	.	.	0.54753	D	0.999987	B;P	0.34546	0.031;0.456	B;B	0.21708	0.005;0.036	T	0.53528	-0.8426	8	0.66056	D	0.02	1.0809	14.6004	0.68438	0.0:1.0:0.0:0.0	.	15;15	B7Z441;F5GWK4	.;.	L	15;15;15;15;15;15;5;15	ENSP00000419413:S15L;ENSP00000418074:S15L;ENSP00000420706:S15L;ENSP00000418405:S15L;ENSP00000420719:S15L;ENSP00000441592:S15L;ENSP00000376778:S5L	ENSP00000376778:S5L	S	+	2	0	ARMC8	139389130	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.137000	0.58010	2.508000	0.84585	0.561000	0.74099	TCG	ARMC8	-	NULL		0.706	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	C	NM_015396	Missense_Mutation	137906440	+1	no_errors	ENST00000469044	ensembl	human	known	70_37	missense	SNP	1.000	T
ARPC1B	10095	genome.wustl.edu	37	7	98984028	98984028	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:98984028G>A	ENST00000451682.1	+	5	373				ARPC1A_ENST00000432884.2_Intron|ARPC1B_ENST00000252725.5_Intron|ARPC1B_ENST00000474880.1_Intron			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			caggggccctgaggtgtcagc	0.607																																																	0																																										SO:0001627	intron_variant	10095			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.65-280G>A	7.37:g.98984028G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BU00	RNA	SNP	-	NULL	ENST00000451682.1	37	NULL	CCDS5661.1	7																																																																																			ARPC1B	-	-		0.607	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARPC1B	HGNC	protein_coding	OTTHUMT00000335894.1	G	NM_005720		98984028	+1	no_errors	ENST00000493403	ensembl	human	known	70_37	rna	SNP	0.000	A
ARPC2	10109	genome.wustl.edu	37	2	219093488	219093488	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:219093488C>T	ENST00000295685.10	+	3	398	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ARPC2_ENST00000315717.5_Missense_Mutation_p.S46L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	46					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TATCATATTTCAAATCCTAAT	0.403																																																	0													108.0	108.0	108.0					2																	219093488		2203	4300	6503	SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.137C>T	2.37:g.219093488C>T	ENSP00000295685:p.Ser46Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.S46L	ENST00000295685.10	37	c.137	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.117302	0.94385	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.49	5.49	0.81192	.	0.125811	0.56097	D	0.000029	T	0.74291	0.3697	M	0.90759	3.145	0.80722	D	1	B	0.31705	0.336	B	0.33690	0.168	T	0.77590	-0.2531	9	0.72032	D	0.01	.	15.0986	0.72256	0.0:0.859:0.1409:0.0	.	46	O15144	ARPC2_HUMAN	L	46	.	ENSP00000295685:S46L	S	+	2	0	ARPC2	218801733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.848000	0.69458	2.865000	0.98341	0.655000	0.94253	TCA	ARPC2	-	NULL		0.403	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	C	NM_005731		219093488	+1	no_errors	ENST00000295685	ensembl	human	known	70_37	missense	SNP	1.000	T
ARVCF	421	genome.wustl.edu	37	22	19967387	19967387	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:19967387G>A	ENST00000263207.3	-	6	1566	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	ARVCF_ENST00000401994.1_Silent_p.R362R|ARVCF_ENST00000344269.3_Silent_p.R362R|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Silent_p.R362R|ARVCF_ENST00000406259.1_Silent_p.R425R	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	425					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGGAGAGGTTGCGCAGTGCCC	0.711																																																	0													28.0	26.0	27.0					22																	19967387		2192	4293	6485	SO:0001819	synonymous_variant	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1275C>T	22.37:g.19967387G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNV2	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R425	ENST00000263207.3	37	c.1275	CCDS13771.1	22																																																																																			ARVCF	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.711	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	G	NM_001670		19967387	-1	no_errors	ENST00000263207	ensembl	human	known	70_37	silent	SNP	0.977	A
ASCC3	10973	genome.wustl.edu	37	6	101315861	101315861	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:101315861G>C	ENST00000369162.2	-	2	357	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	ASCC3_ENST00000522650.1_Missense_Mutation_p.R5G|ASCC3_ENST00000369143.2_Missense_Mutation_p.R5G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	5					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTGTGAGACGAGGTAAAGCC	0.373																																																	0													83.0	78.0	79.0					6																	101315861		2202	4300	6502	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.13C>G	6.37:g.101315861G>C	ENSP00000358159:p.Arg5Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R5G	ENST00000369162.2	37	c.13	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575863	0.86645	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723;ENST00000369143	T;T;T	0.72282	-0.05;-0.64;-0.5	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.59436	1.845	0.43152	D	0.994923	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.931	T	0.80888	-0.1181	10	0.87932	D	0	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	5;5;5;5	Q4G1A0;Q9H5A2;E7EW23;Q8N3C0	.;.;.;HELC1_HUMAN	G	5	ENSP00000358159:R5G;ENSP00000430769:R5G;ENSP00000320777:R5G	ENSP00000320252:R5G	R	-	1	0	ASCC3	101422582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.739000	0.74827	2.824000	0.97209	0.655000	0.94253	CGT	ASCC3	-	NULL		0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	G	NM_006828		101315861	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	missense	SNP	1.000	C
ASGR2	433	genome.wustl.edu	37	17	7017496	7017496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7017496G>A	ENST00000380952.2	-	2	328	c.64C>T	c.(64-66)Caa>Taa	p.Q22*	ASGR2_ENST00000355035.5_Nonsense_Mutation_p.Q22*|ASGR2_ENST00000254850.7_Nonsense_Mutation_p.Q22*|ASGR2_ENST00000446679.2_Nonsense_Mutation_p.Q22*	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	22					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCCTCACCTTGATGGAAAGGA	0.567																																																	0													163.0	133.0	143.0					17																	7017496		2203	4300	6503	SO:0001587	stop_gained	433			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.64C>T	17.37:g.7017496G>A	ENSP00000370339:p.Gln22*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Nonsense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.Q22*	ENST00000380952.2	37	c.64	CCDS32544.1	17	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266070	0.40095	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	.	.	.	3.48	-3.68	0.04463	.	0.708924	0.11636	N	0.544258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0583	0.19824	0.0:0.4745:0.3381:0.1874	.	.	.	.	X	22	.	ENSP00000254850:Q22X	Q	-	1	0	ASGR2	6958220	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.699000	0.05077	-0.271000	0.10264	CAA	ASGR2	-	NULL		0.567	ASGR2-201	KNOWN	basic|CCDS	protein_coding	ASGR2	HGNC	protein_coding	OTTHUMT00000220003.1	G	NM_080914		7017496	-1	no_errors	ENST00000355035	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ASIC3	9311	genome.wustl.edu	37	7	150747872	150747872	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150747872G>A	ENST00000349064.5	+	4	1039	c.841G>A	c.(841-843)Gat>Aat	p.D281N	ASIC3_ENST00000297512.8_Missense_Mutation_p.D281N|ASIC3_ENST00000357922.4_Missense_Mutation_p.D281N	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	281					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)										GCCCTGGGGCGATTGCAGTTC	0.647																																																	0													32.0	37.0	35.0					7																	150747872		2203	4300	6503	SO:0001583	missense	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.841G>A	7.37:g.150747872G>A	ENSP00000344838:p.Asp281Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.D281N	ENST00000349064.5	37	c.841	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240613	0.39598	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64803	-0.12;-0.12;-0.12	5.06	5.06	0.68205	.	0.000000	0.40144	U	0.001175	T	0.39963	0.1098	L	0.33753	1.03	0.36580	D	0.873481	B;B;P	0.39624	0.191;0.039;0.681	B;B;B	0.23018	0.036;0.01;0.043	T	0.48055	-0.9068	10	0.15499	T	0.54	-32.6936	9.8632	0.41127	0.0939:0.0:0.9061:0.0	.	281;281;281	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	N	281	ENSP00000350600:D281N;ENSP00000344838:D281N;ENSP00000297512:D281N	ENSP00000297512:D281N	D	+	1	0	ACCN3	150378805	0.217000	0.23597	0.817000	0.32601	0.921000	0.55340	0.547000	0.23299	2.501000	0.84356	0.650000	0.86243	GAT	ASIC3	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.647	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	G	NM_004769		150747872	+1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.263	A
ASMTL	8623	genome.wustl.edu	37	X	1520978	1520978	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:1520978G>A	ENST00000381317.3	-	0	2027				ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000420411.2_RNA|LINC00106_ENST00000430235.2_lincRNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000443929.1_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCAGGGGTGAGCGGCAGCG	0.622																																																	0																																										SO:0001628	intergenic_variant	80161			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057		X.37:g.1520978G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	RNA	SNP	-	NULL	ENST00000381317.3	37	NULL	CCDS43917.1	X																																																																																			ASMTL-AS1	-	-		0.622	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL-AS1	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1520978	+1	no_errors	ENST00000419737	ensembl	human	known	70_37	rna	SNP	0.351	A
ASMT	438	genome.wustl.edu	37	X	1734097	1734097	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:1734097G>A	ENST00000381229.4	+	1	41	c.5G>A	c.(4-6)gGa>gAa	p.G2E	ASMT_ENST00000381233.3_Missense_Mutation_p.G2E|ASMT_ENST00000381241.3_Missense_Mutation_p.G2E			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	2					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GACAAGATGGGATCCTCAGAG	0.592																																																	0													254.0	195.0	215.0					X																	1734097		2198	4293	6491	SO:0001583	missense	438			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.5G>A	X.37:g.1734097G>A	ENSP00000370627:p.Gly2Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_O-MeTrfase_CAOMT-type	p.G2E	ENST00000381229.4	37	c.5		X	.	.	.	.	.	.	.	.	.	.	g	2.884	-0.231091	0.05983	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.02197	4.76;4.66;4.4	1.85	0.88	0.19161	.	1.610720	0.04257	N	0.339673	T	0.01905	0.0060	N	0.22421	0.69	0.21445	N	0.999687	B;B	0.33583	0.178;0.418	B;B	0.31101	0.124;0.124	T	0.48670	-0.9015	10	0.15066	T	0.55	.	6.172	0.20422	0.0:0.3159:0.6841:0.0	.	2;2	P46597-2;P46597-3	.;.	E	2	ENSP00000370639:G2E;ENSP00000370627:G2E;ENSP00000370631:G2E	ENSP00000370627:G2E	G	+	2	0	ASMT	1694097	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	-0.399000	0.07250	-0.137000	0.11455	0.273000	0.19326	GGA	ASMT	-	pirsf_O-MeTrfase_CAOMT-type		0.592	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	G	NM_004043		1734097	+1	no_errors	ENST00000381241	ensembl	human	known	70_37	missense	SNP	0.001	A
ASPH	444	genome.wustl.edu	37	8	62416044	62416044	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:62416044G>C	ENST00000379454.4	-	25	2338	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	ASPH_ENST00000541428.1_Silent_p.L688L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	717					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)	CATCAAAGATGAGCACCTTGC	0.498																																																	0													125.0	93.0	104.0					8																	62416044		2203	4300	6503	SO:0001819	synonymous_variant	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.2151C>G	8.37:g.62416044G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L717	ENST00000379454.4	37	c.2151	CCDS34898.1	8																																																																																			ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.498	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	G	NM_004318		62416044	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	silent	SNP	0.999	C
ASPM	259266	genome.wustl.edu	37	1	197070687	197070687	+	Missense_Mutation	SNP	C	C	T	rs144999603		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:197070687C>T	ENST00000367409.4	-	18	7950	c.7694G>A	c.(7693-7695)aGa>aAa	p.R2565K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2565					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTATACATTCTGTAGGTGCT	0.333																																																	0													64.0	57.0	59.0					1																	197070687		2200	4297	6497	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7694G>A	1.37:g.197070687C>T	ENSP00000356379:p.Arg2565Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2565K	ENST00000367409.4	37	c.7694	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585483	0.66105	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	D	0.82984	-1.67	5.15	3.28	0.37604	.	0.131525	0.52532	N	0.000076	D	0.91754	0.7392	M	0.92412	3.305	0.80722	D	1	P;D	0.69078	0.956;0.997	D;D	0.71184	0.949;0.972	D	0.91321	0.5082	10	0.46703	T	0.11	.	11.6401	0.51228	0.0:0.854:0.0:0.146	.	551;2565	E7EQ84;Q8IZT6	.;ASPM_HUMAN	K	2565;551	ENSP00000356379:R2565K	ENSP00000356376:R551K	R	-	2	0	ASPM	195337310	1.000000	0.71417	0.670000	0.29842	0.985000	0.73830	2.635000	0.46537	0.664000	0.31047	0.557000	0.71058	AGA	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197070687	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.999	T
ASPSCR1	79058	genome.wustl.edu	37	17	79973017	79973017	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:79973017G>C	ENST00000306739.4	+	13	1450				ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.E474Q	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1						glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTGGGACCAGAGCAGAGAAC	0.622			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													66.0	66.0	66.0					17																	79973017		876	1991	2867	SO:0001627	intron_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1354-1335G>C	17.37:g.79973017G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG,pfam_UBX,pfscan_UBX	p.E474Q	ENST00000306739.4	37	c.1420	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	G	3.358	-0.131148	0.06753	.	.	ENSG00000169696	ENST00000306729	T	0.24908	1.83	0.158	0.158	0.14942	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.09310	N	0.999996	B	0.23891	0.093	B	0.17979	0.02	T	0.31558	-0.9939	6	.	.	.	.	.	.	.	.	474	Q9BZE9-2	.	Q	474	ENSP00000306625:E474Q	.	E	+	1	0	ASPSCR1	77566306	0.002000	0.14202	0.032000	0.17829	0.036000	0.12997	0.924000	0.28777	0.202000	0.20498	0.205000	0.17691	GAG	ASPSCR1	-	NULL		0.622	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	G	NM_024083		79973017	+1	no_errors	ENST00000306729	ensembl	human	known	70_37	missense	SNP	0.035	C
ASTN1	460	genome.wustl.edu	37	1	176838140	176838140	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:176838140G>C	ENST00000367654.3	-	22	3722	c.3511C>G	c.(3511-3513)Ctc>Gtc	p.L1171V	ASTN1_ENST00000361833.2_Missense_Mutation_p.L1163V|ASTN1_ENST00000424564.2_Missense_Mutation_p.L1163V|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1163V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1171					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATTGAAGAGATTGTAGATC	0.398																																																	0													130.0	117.0	122.0					1																	176838140		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3511C>G	1.37:g.176838140G>C	ENSP00000356626:p.Leu1171Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L1171V	ENST00000367654.3	37	c.3511		1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485318	0.84854	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.27720	1.65;2.06;2.06;1.66	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.77557	0.99;0.986	T	0.54370	-0.8304	10	0.87932	D	0	-26.2491	19.4429	0.94831	0.0:0.0:1.0:0.0	.	1163;1163	O14525-2;B1AJS1	.;.	V	1163;1163;1171;1163;1163	ENSP00000356629:L1163V;ENSP00000354536:L1163V;ENSP00000356626:L1171V;ENSP00000395041:L1163V	ENSP00000354536:L1163V	L	-	1	0	ASTN1	175104763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.838000	0.86804	2.698000	0.92095	0.655000	0.94253	CTC	ASTN1	-	NULL		0.398	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176838140	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	C
ATAD2	29028	genome.wustl.edu	37	8	124381325	124381325	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:124381325C>T	ENST00000287394.5	-	8	1129	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	341					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAAGGACTTCTTGGTCCTGC	0.393																																																	0													107.0	95.0	99.0					8																	124381325		2203	4300	6503	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1022G>A	8.37:g.124381325C>T	ENSP00000287394:p.Arg341Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R341K	ENST00000287394.5	37	c.1022	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662524	0.67700	.	.	ENSG00000156802	ENST00000287394	D	0.92149	-2.98	5.34	5.34	0.76211	.	0.309653	0.19226	U	0.119543	D	0.85566	0.5726	N	0.24115	0.695	0.80722	D	1	B;P	0.52316	0.019;0.952	B;B	0.38616	0.011;0.277	D	0.84381	0.0549	10	0.19147	T	0.46	-19.8817	18.183	0.89785	0.0:1.0:0.0:0.0	.	171;341	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	341	ENSP00000287394:R341K	ENSP00000287394:R341K	R	-	2	0	ATAD2	124450506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.334000	0.52097	2.645000	0.89757	0.650000	0.86243	AGA	ATAD2	-	NULL		0.393	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124381325	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	missense	SNP	1.000	T
ATAD3B	83858	genome.wustl.edu	37	1	1418031	1418031	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:1418031G>A	ENST00000308647.7	+	7	866				ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Missense_Mutation_p.E95K	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B							mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCAGGTGGCTGAGAGGCAGCA	0.587																																																	0													42.0	59.0	53.0					1																	1418031		2203	4298	6501	SO:0001627	intron_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.750+37G>A	1.37:g.1418031G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	pfam_DUF3523	p.E95K	ENST00000308647.7	37	c.283	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	.	1.719	-0.497040	0.04291	.	.	ENSG00000160072	ENST00000378741;ENST00000378736	.	.	.	1.42	-0.968	0.10313	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	2.6519	0.05002	0.2397:0.3378:0.4226:0.0	.	.	.	.	K	95	.	.	E	+	1	0	ATAD3B	1407894	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.277000	0.02812	-0.260000	0.09418	0.194000	0.17425	GAG	ATAD3B	-	pfam_DUF3523		0.587	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	G	NM_031921		1418031	+1	no_errors	ENST00000378741	ensembl	human	known	70_37	missense	SNP	0.001	A
MRPS18B	28973	genome.wustl.edu	37	6	30594728	30594728	+	IGR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30594728G>C	ENST00000259873.4	+	0	1532				ATAT1_ENST00000318999.7_Silent_p.L22L|ATAT1_ENST00000319027.5_Silent_p.L22L|ATAT1_ENST00000376483.4_Silent_p.L22L|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000329992.8_Silent_p.L22L|ATAT1_ENST00000376485.4_Silent_p.L22L|ATAT1_ENST00000330083.5_5'UTR|ATAT1_ENST00000376478.2_Silent_p.L22L	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						ACCAGCACCTGAGGCCCCCAG	0.677																																																	0													38.0	21.0	27.0					6																	30594728		1508	2702	4210	SO:0001628	intergenic_variant	79969			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268		6.37:g.30594728G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDQ0|Q659G4|Q9BS27	Silent	SNP	pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase	p.L22	ENST00000259873.4	37	c.66	CCDS4682.1	6																																																																																			ATAT1	-	NULL		0.677	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAT1	HGNC	protein_coding	OTTHUMT00000076584.2	G			30594728	+1	no_errors	ENST00000376485	ensembl	human	known	70_37	silent	SNP	1.000	C
ATF4	468	genome.wustl.edu	37	22	39917510	39917510	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:39917510C>T	ENST00000337304.2	+	1	942	c.60C>T	c.(58-60)ttC>ttT	p.F20F	ATF4_ENST00000404241.2_Silent_p.F20F|ATF4_ENST00000396680.1_Silent_p.F20F	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	20					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TGTCCCCCTTCGACCAGTCGG	0.537																																																	0													64.0	64.0	64.0					22																	39917510		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.60C>T	22.37:g.39917510C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.F20	ENST00000337304.2	37	c.60	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917510	+1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	T
ATG3	64422	genome.wustl.edu	37	3	112260706	112260706	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:112260706G>A	ENST00000283290.5	-	7	853	c.419C>T	c.(418-420)tCa>tTa	p.S140L	ATG3_ENST00000402314.2_Missense_Mutation_p.S140L|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	140					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ACATAGTGCTGAGCAATCTTG	0.343																																																	0													154.0	142.0	146.0					3																	112260706		2203	4300	6503	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.419C>T	3.37:g.112260706G>A	ENSP00000283290:p.Ser140Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C	p.S140L	ENST00000283290.5	37	c.419	CCDS2966.1	3	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257445	0.39896	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.49	5.49	0.81192	Autophagy-related protein 3, N-terminal (1);	0.590906	0.17507	N	0.171757	T	0.39253	0.1071	N	0.03608	-0.345	0.51482	D	0.999921	B;B;B	0.30281	0.275;0.0;0.0	B;B;B	0.33690	0.168;0.004;0.003	T	0.36261	-0.9755	9	0.28530	T	0.3	-17.0725	17.5544	0.87886	0.0:0.0:1.0:0.0	.	53;140;140	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	L	140;140;53	.	ENSP00000283290:S140L	S	-	2	0	ATG3	113743396	1.000000	0.71417	0.914000	0.36105	0.671000	0.39405	5.217000	0.65252	2.577000	0.86979	0.563000	0.77884	TCA	ATG3	-	pfam_Autophagy-rel_prot_3_N		0.343	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	HGNC	protein_coding	OTTHUMT00000354147.1	G	NM_022488		112260706	-1	no_errors	ENST00000283290	ensembl	human	known	70_37	missense	SNP	0.998	A
ATG5	9474	genome.wustl.edu	37	6	106727617	106727617	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:106727617C>T	ENST00000369076.3	-	5	720	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ATG5_ENST00000343245.3_Missense_Mutation_p.D133N|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.D55N	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	133					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTTAAAGCATCAGCTTCTTTC	0.323																																																	0													106.0	100.0	102.0					6																	106727617		2203	4299	6502	SO:0001583	missense	9474			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.397G>A	6.37:g.106727617C>T	ENSP00000358072:p.Asp133Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_5	p.D133N	ENST00000369076.3	37	c.397	CCDS5055.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.206289	0.95033	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.81497	2.545	0.80722	D	1	D;D;D	0.69078	0.988;0.997;0.988	D;D;D	0.63877	0.919;0.919;0.919	T	0.71879	-0.4459	9	0.23302	T	0.38	-8.6572	20.6593	0.99626	0.0:1.0:0.0:0.0	.	133;55;133	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	N	133;133;55	.	ENSP00000343313:D133N	D	-	1	0	ATG5	106834310	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.298000	0.78815	2.885000	0.99019	0.655000	0.94253	GAT	ATG5	-	pfam_Autophagy-rel_prot_5		0.323	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	C	NM_004849		106727617	-1	no_errors	ENST00000343245	ensembl	human	known	70_37	missense	SNP	1.000	T
ATG9B	285973	genome.wustl.edu	37	7	150709588	150709588	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150709588G>C	ENST00000494791.1	-	0	4284				ATG9B_ENST00000377974.2_3'UTR|NOS3_ENST00000477227.1_Intron|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Intron|ATG9B_ENST00000444312.1_3'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACTGCCTGAAGGGAGTCA	0.567											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24.0	25.0	25.0					7																	150709588		2203	4299	6502	SO:0001623	5_prime_UTR_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.-287C>G	7.37:g.150709588G>C		Somatic	1734	WXS	Illumina HiSeq	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-		0.567	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2	G	NM_173681		150709588	-1	no_errors	ENST00000377974	ensembl	human	known	70_37	rna	SNP	0.001	C
ATM	472	genome.wustl.edu	37	11	108122745	108122745	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:108122745C>G	ENST00000452508.2	+	12	1978	c.1789C>G	c.(1789-1791)Cca>Gca	p.P597A	ATM_ENST00000278616.4_Missense_Mutation_p.P597A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	597					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGAAGTGCCTCCAATTCTTCA	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													76.0	83.0	81.0					11																	108122745		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1789C>G	11.37:g.108122745C>G	ENSP00000388058:p.Pro597Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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.P597A	ENST00000452508.2	37	c.1789	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857353	0.71834	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.58797	0.31;0.31;0.31	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.67953	2.075	0.48762	D	0.999704	D	0.67145	0.996	P	0.60609	0.877	T	0.67968	-0.5533	10	0.33940	T	0.23	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	597	Q13315	ATM_HUMAN	A	597	ENSP00000435747:P597A;ENSP00000278616:P597A;ENSP00000388058:P597A	ENSP00000278616:P597A	P	+	1	0	ATM	107627955	0.998000	0.40836	0.996000	0.52242	0.616000	0.37450	5.359000	0.66074	2.868000	0.98415	0.557000	0.71058	CCA	ATM	-	superfamily_ARM-type_fold		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108122745	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	G
ATN1	1822	genome.wustl.edu	37	12	7045670	7045670	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:7045670C>T	ENST00000356654.4	+	5	1477	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	ATN1_ENST00000396684.2_Missense_Mutation_p.P414S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	414					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCTTTCCCTCCCCCAACAAG	0.612																																																	0													88.0	74.0	79.0					12																	7045670		2203	4300	6503	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1240C>T	12.37:g.7045670C>T	ENSP00000349076:p.Pro414Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.P414S	ENST00000356654.4	37	c.1240	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	c	13.62	2.292052	0.40594	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.53423	0.62;0.62;0.62	3.88	3.88	0.44766	.	0.000000	0.33732	U	0.004619	T	0.55226	0.1907	L	0.36672	1.1	0.45962	D	0.998785	D;D	0.58268	0.982;0.975	P;P	0.62491	0.903;0.84	T	0.53961	-0.8364	10	0.33141	T	0.24	.	16.2396	0.82401	0.0:1.0:0.0:0.0	.	414;414	Q86V38;P54259	.;ATN1_HUMAN	S	414	ENSP00000349076:P414S;ENSP00000379915:P414S;ENSP00000441744:P414S	ENSP00000349076:P414S	P	+	1	0	ATN1	6915931	0.024000	0.19004	0.971000	0.41717	0.287000	0.27160	1.988000	0.40697	1.883000	0.54544	0.586000	0.80456	CCC	ATN1	-	pfam_Atrophin-like		0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	C	NM_001940		7045670	+1	no_errors	ENST00000356654	ensembl	human	known	70_37	missense	SNP	0.929	T
ATP13A2	23400	genome.wustl.edu	37	1	17313385	17313385	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:17313385G>C	ENST00000326735.8	-	27	3183	c.3150C>G	c.(3148-3150)gtC>gtG	p.V1050V	ATP13A2_ENST00000341676.5_Silent_p.V1006V|ATP13A2_ENST00000452699.1_Silent_p.V1045V|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1050					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)		ACAGAGAGAAGACCACGGTGT	0.637																																																	0													95.0	78.0	84.0					1																	17313385		2203	4300	6503	SO:0001819	synonymous_variant	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.3150C>G	1.37:g.17313385G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	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.V1050	ENST00000326735.8	37	c.3150	CCDS175.1	1																																																																																			ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.637	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17313385	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	silent	SNP	0.998	C
ATP2A1	487	genome.wustl.edu	37	16	28893804	28893804	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:28893804G>A	ENST00000357084.3	+	5	624	c.357G>A	c.(355-357)ctG>ctA	p.L119L	RP11-22P6.3_ENST00000566956.1_RNA|ATP2A1_ENST00000536376.1_5'UTR|SNORA43_ENST00000516652.1_RNA|ATP2A1_ENST00000395503.4_Silent_p.L119L|RP11-22P6.3_ENST00000561547.1_RNA	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	119					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCGAGGCCCTGAAGGAGTATG	0.597																																																	0													116.0	90.0	99.0					16																	28893804		2197	4300	6497	SO:0001819	synonymous_variant	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.357G>A	16.37:g.28893804G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J9|B3KY17|O14984	Silent	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,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.L119	ENST00000357084.3	37	c.357	CCDS10643.1	16																																																																																			ATP2A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	G	NM_004320		28893804	+1	no_errors	ENST00000357084	ensembl	human	known	70_37	silent	SNP	0.989	A
ATP2A1	487	genome.wustl.edu	37	16	28911970	28911970	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:28911970C>G	ENST00000357084.3	+	15	2100	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	ATP2A1_ENST00000536376.1_Missense_Mutation_p.I486M|ATP2A1_ENST00000395503.4_Missense_Mutation_p.I611M	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	611					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGGGCTCCATCCAGCTGTGCC	0.612																																																	0													87.0	73.0	78.0					16																	28911970		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1833C>G	16.37:g.28911970C>G	ENSP00000349595:p.Ile611Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J9|B3KY17|O14984	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,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.I611M	ENST00000357084.3	37	c.1833	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465963	0.63625	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99418	-5.87;-5.87;-5.87	5.31	3.3	0.37823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	M	0.91196	3.185	0.46654	D	0.999145	P;B;P	0.48350	0.897;0.322;0.909	D;P;D	0.65773	0.914;0.849;0.938	D	0.99016	1.0816	10	0.56958	D	0.05	.	10.1088	0.42550	0.0:0.8267:0.0:0.1733	.	486;611;611	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	M	611;611;648;486	ENSP00000349595:I611M;ENSP00000378879:I611M;ENSP00000443101:I486M	ENSP00000349595:I611M	I	+	3	3	ATP2A1	28819471	0.999000	0.42202	1.000000	0.80357	0.874000	0.50279	1.150000	0.31639	0.576000	0.29452	0.485000	0.47835	ATC	ATP2A1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp		0.612	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	C	NM_004320		28911970	+1	no_errors	ENST00000357084	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP6V0B	533	genome.wustl.edu	37	1	44442474	44442474	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:44442474C>T	ENST00000472174.2	+	6	771	c.378C>T	c.(376-378)atC>atT	p.I126I	B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.I173I|ATP6V0B_ENST00000236067.4_Silent_p.I79I|B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000498664.1_Silent_p.I79I|ATP6V0B_ENST00000532642.1_Silent_p.I126I	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	126					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCAAGGCCATCGGCCATCGGA	0.527																																																	0													69.0	65.0	66.0					1																	44442474		2203	4300	6503	SO:0001819	synonymous_variant	533			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.378C>T	1.37:g.44442474C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPY5|Q6IB32	Silent	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu	p.I126	ENST00000472174.2	37	c.378	CCDS505.1	1																																																																																			ATP6V0B	-	NULL		0.527	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0B	HGNC	protein_coding	OTTHUMT00000022854.2	C	NM_004047		44442474	+1	no_errors	ENST00000472174	ensembl	human	known	70_37	silent	SNP	0.999	T
ATP5F1	515	genome.wustl.edu	37	1	111992026	111992026	+	5'UTR	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:111992026C>A	ENST00000369722.3	+	0	469				WDR77_ENST00000497278.1_5'Flank|WDR77_ENST00000411751.2_5'Flank|ATP5F1_ENST00000483994.1_5'Flank|Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000235090.5_5'Flank	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1						ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTTTAAAAATCTCCCAAGGAA	0.478																																																	0																																										SO:0001623	5_prime_UTR_variant	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.-138C>A	1.37:g.111992026C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ68|Q9BRU8	RNA	SNP	-	NULL	ENST00000369722.3	37	NULL	CCDS836.1	1																																																																																			ATP5F1	-	-		0.478	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	C	NM_001688		111992026	+1	no_errors	ENST00000493119	ensembl	human	known	70_37	rna	SNP	0.000	A
ATP7B	540	genome.wustl.edu	37	13	52548749	52548749	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:52548749C>A	ENST00000242839.4	-	2	763	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	ATP7B_ENST00000448424.2_Missense_Mutation_p.D203Y|ATP7B_ENST00000344297.5_Missense_Mutation_p.D203Y|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.D203Y|ATP7B_ENST00000400370.3_Missense_Mutation_p.D203Y|ATP7B_ENST00000542656.1_Missense_Mutation_p.D171Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.D203Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	203	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATCCCATGTCATTTACATGG	0.473									Wilson disease																																								0													90.0	91.0	91.0					13																	52548749		2002	4179	6181	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.607G>T	13.37:g.52548749C>A	ENSP00000242839:p.Asp203Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.D203Y	ENST00000242839.4	37	c.607	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826817	0.71143	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.79	5.79	0.91817	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.215506	0.53938	D	0.000041	D	0.95149	0.8428	H	0.95539	3.685	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;1.0;1.0;1.0;0.993	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.987;0.964;0.999;0.993;0.994;0.967	D	0.95557	0.8626	10	0.59425	D	0.04	-29.2412	12.8129	0.57649	0.0:0.8838:0.0:0.1162	.	171;203;203;203;203;203;203;203	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	Y	203;203;203;203;203;203;171	ENSP00000242839:D203Y;ENSP00000383217:D203Y;ENSP00000342559:D203Y;ENSP00000416738:D203Y;ENSP00000383221:D203Y;ENSP00000393343:D203Y;ENSP00000443128:D171Y	ENSP00000242839:D203Y	D	-	1	0	ATP7B	51446750	0.998000	0.40836	0.961000	0.40146	0.984000	0.73092	3.905000	0.56333	2.750000	0.94351	0.561000	0.74099	GAC	ATP7B	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.473	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52548749	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	missense	SNP	0.988	A
ATPAF2	91647	genome.wustl.edu	37	17	17942394	17942394	+	5'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:17942394C>T	ENST00000474627.3	-	0	88				GID4_ENST00000268719.4_5'Flank|ATPAF2_ENST00000585101.1_5'UTR|GID4_ENST00000376345.3_5'Flank	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2						proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCGATGGGATCCCCAAAGCCG	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.-67G>A	17.37:g.17942394C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDE5|A8K2J2|Q6XYC7	RNA	SNP	-	NULL	ENST00000474627.3	37	NULL	CCDS32585.1	17																																																																																			ATPAF2	-	-		0.652	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPAF2	HGNC	protein_coding	OTTHUMT00000131934.3	C	NM_145691		17942394	-1	no_errors	ENST00000577586	ensembl	human	known	70_37	rna	SNP	0.001	T
ATRIP	84126	genome.wustl.edu	37	3	48488421	48488421	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:48488421G>A	ENST00000320211.3	+	1	285	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ATRIP_ENST00000346691.4_Missense_Mutation_p.D58N|ATRIP_ENST00000357105.6_Intron|RP11-24C3.2_ENST00000438872.1_RNA|RP11-24C3.2_ENST00000435578.1_RNA|ATRIP_ENST00000412052.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	58					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCACTGCCGACGACCTGGA	0.721								Other conserved DNA damage response genes																																									0													18.0	20.0	19.0					3																	48488421		2183	4262	6445	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.172G>A	3.37:g.48488421G>A	ENSP00000323099:p.Asp58Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.D58N	ENST00000320211.3	37	c.172	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.122748	0.97300	.	.	ENSG00000164053	ENST00000320211;ENST00000346691	T;T	0.45668	0.93;0.89	5.42	5.42	0.78866	.	0.136987	0.64402	D	0.000005	T	0.62258	0.2413	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63341	-0.6659	10	0.72032	D	0.01	-19.3988	17.0904	0.86620	0.0:0.0:1.0:0.0	.	58;58	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	N	58	ENSP00000323099:D58N;ENSP00000302338:D58N	ENSP00000323099:D58N	D	+	1	0	ATRIP	48463425	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	5.061000	0.64319	2.712000	0.92718	0.655000	0.94253	GAC	ATRIP	-	NULL		0.721	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	G	NM_130384		48488421	+1	no_errors	ENST00000320211	ensembl	human	known	70_37	missense	SNP	0.995	A
AZIN1	51582	genome.wustl.edu	37	8	103846971	103846971	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:103846971G>A	ENST00000337198.5	-	7	1752	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	AZIN1_ENST00000347770.4_Missense_Mutation_p.H197Y|AZIN1_ENST00000522311.1_5'Flank	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	197					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)			CTCGAAACATGAAATCTGAAA	0.343																																																	0													86.0	81.0	83.0					8																	103846971		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.589C>T	8.37:g.103846971G>A	ENSP00000337180:p.His197Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	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.H197Y	ENST00000337198.5	37	c.589	CCDS6295.1	8	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235141	0.58886	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.63096	-0.02;-0.02	5.97	5.97	0.96955	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.141893	0.64402	D	0.000004	D	0.85204	0.5643	H	0.95402	3.665	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	D	0.88806	0.3288	10	0.87932	D	0	-12.5372	15.9808	0.80108	0.0:0.0:0.8648:0.1352	.	197	O14977	AZIN1_HUMAN	Y	197	ENSP00000337180:H197Y;ENSP00000321507:H197Y	ENSP00000337180:H197Y	H	-	1	0	AZIN1	103916147	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.614000	0.67695	2.836000	0.97738	0.655000	0.94253	CAT	AZIN1	-	pfam_De-COase2_N,prints_Orn/DAP/Arg_de-COase		0.343	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	G			103846971	-1	no_errors	ENST00000337198	ensembl	human	known	70_37	missense	SNP	1.000	A
B3GALNT2	148789	genome.wustl.edu	37	1	235658103	235658103	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:235658103G>C	ENST00000366600.3	-	2	376	c.148C>G	c.(148-150)Cac>Gac	p.H50D	B3GALNT2_ENST00000313984.3_Missense_Mutation_p.H91D|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	50					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ACATCATAGTGAGTAGATTTC	0.383																																																	0													121.0	101.0	108.0					1																	235658103		2203	4300	6503	SO:0001583	missense	148789			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.148C>G	1.37:g.235658103G>C	ENSP00000355559:p.His50Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.H50D	ENST00000366600.3	37	c.148	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926672	0.52759	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	T;T	0.58358	0.34;1.53	5.69	5.69	0.88448	.	0.484707	0.25192	N	0.032459	T	0.56262	0.1973	L	0.55481	1.735	0.26335	N	0.977459	P;P	0.44946	0.846;0.698	P;B	0.47786	0.557;0.108	T	0.53669	-0.8406	10	0.36615	T	0.2	-19.227	14.6597	0.68861	0.0:0.0:0.8545:0.1455	.	91;50	Q8NCR0-2;Q8NCR0	.;B3GL2_HUMAN	D	91;50;91	ENSP00000355559:H50D;ENSP00000315678:H91D	ENSP00000315678:H91D	H	-	1	0	B3GALNT2	233724726	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	4.150000	0.58098	2.864000	0.98301	0.549000	0.68633	CAC	B3GALNT2	-	NULL		0.383	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALNT2	HGNC	protein_coding	OTTHUMT00000097376.1	G	NM_152490		235658103	-1	no_errors	ENST00000366600	ensembl	human	known	70_37	missense	SNP	0.983	C
B9D1	27077	genome.wustl.edu	37	17	19246682	19246682	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19246682C>G	ENST00000261499.4	-	7	708	c.565G>C	c.(565-567)Gat>Cat	p.D189H	B9D1_ENST00000575403.1_Intron|B9D1_ENST00000395615.1_3'UTR|B9D1_ENST00000477478.2_3'UTR|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000461069.2_Intron	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	189					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCTGTGTATCAGAAGGCCCA	0.587																																																	0													84.0	74.0	77.0					17																	19246682		2203	4300	6503	SO:0001583	missense	27077			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.565G>C	17.37:g.19246682C>G	ENSP00000261499:p.Asp189His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BU22	Missense_Mutation	SNP	pfam_B9_dom	p.D189H	ENST00000261499.4	37	c.565	CCDS11205.1	17	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303402	0.40795	.	.	ENSG00000108641	ENST00000261499	T	0.65364	-0.15	5.46	5.46	0.80206	.	0.340346	0.35466	N	0.003186	T	0.58750	0.2144	L	0.52573	1.65	0.40768	D	0.983062	P	0.37864	0.61	B	0.40901	0.343	T	0.61758	-0.6997	10	0.46703	T	0.11	.	11.5421	0.50672	0.0:0.9166:0.0:0.0834	.	189	Q9UPM9	B9D1_HUMAN	H	189	ENSP00000261499:D189H	ENSP00000261499:D189H	D	-	1	0	B9D1	19187275	.	.	0.218000	0.23776	0.010000	0.07245	.	.	2.559000	0.86315	0.549000	0.68633	GAT	B9D1	-	NULL		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1	C	NM_015681		19246682	-1	no_errors	ENST00000261499	ensembl	human	known	70_37	missense	SNP	0.303	G
BAG5	9529	genome.wustl.edu	37	14	104026644	104026644	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:104026644C>G	ENST00000445922.2	-	2	1104	c.858G>C	c.(856-858)atG>atC	p.M286I	APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.M327I|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.M286I|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	286	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.M286I(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTATTTCTCTCATTCTCTTGA	0.373																																					NSCLC(171;1832 2055 18950 31566 41632)												1	Substitution - Missense(1)	endometrium(1)											96.0	104.0	101.0					14																	104026644		2203	4300	6503	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.858G>C	14.37:g.104026644C>G	ENSP00000391713:p.Met286Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.M327I	ENST00000445922.2	37	c.981	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274279	0.40194	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87029	-2.2;-2.2;-2.2	5.65	5.65	0.86999	BAG domain (3);	0.372679	0.30501	N	0.009483	T	0.77384	0.4122	N	0.14661	0.345	0.35463	D	0.796677	B;B	0.28933	0.072;0.228	B;B	0.27796	0.067;0.083	T	0.80562	-0.1327	10	0.51188	T	0.08	-53.2142	13.0002	0.58670	0.0:0.9265:0.0:0.0735	.	286;327	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	I	286;286;327	ENSP00000299204:M286I;ENSP00000391713:M286I;ENSP00000338814:M327I	ENSP00000299204:M286I	M	-	3	0	BAG5	103096397	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.642000	0.54367	2.670000	0.90874	0.655000	0.94253	ATG	BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.373	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	C			104026644	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	missense	SNP	1.000	G
BAG5	9529	genome.wustl.edu	37	14	104028264	104028264	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:104028264C>G	ENST00000445922.2	-	1	219				APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.W27C|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Intron|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CACTGGGAGTCCACAATGGCC	0.488																																					NSCLC(171;1832 2055 18950 31566 41632)												0													105.0	105.0	105.0					14																	104028264		1913	4134	6047	SO:0001627	intron_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.27+172G>C	14.37:g.104028264C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.W27C	ENST00000445922.2	37	c.81	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388649	0.11581	.	.	ENSG00000166170	ENST00000337322	T	0.80393	-1.37	2.39	-0.567	0.11763	.	1.784330	0.04256	U	0.339485	T	0.70579	0.3240	.	.	.	0.09310	N	0.999998	B	0.18013	0.025	B	0.18871	0.023	T	0.55921	-0.8064	9	0.56958	D	0.05	.	5.0903	0.14704	0.0:0.5244:0.0:0.4756	.	27	Q9UL15-2	.	C	27	ENSP00000338814:W27C	ENSP00000338814:W27C	W	-	3	0	BAG5	103098017	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.324000	0.07986	-0.148000	0.11234	0.561000	0.74099	TGG	BAG5	-	NULL		0.488	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	C			104028264	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	missense	SNP	0.000	G
BAZ2B	29994	genome.wustl.edu	37	2	160287376	160287376	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:160287376G>C	ENST00000392783.2	-	10	2687	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	BAZ2B_ENST00000392782.1_Missense_Mutation_p.S729C|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S731C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	731					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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTAGGTACCAGAGTGTGGGCT	0.408																																																	0													90.0	87.0	88.0					2																	160287376		1867	4109	5976	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2192C>G	2.37:g.160287376G>C	ENSP00000376534:p.Ser731Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S731C	ENST00000392783.2	37	c.2192	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828791	0.50845	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;D;T	0.96491	1.87;-4.03;1.87	5.64	4.75	0.60458	DNA-binding, integrase-type (1);	0.210766	0.23032	U	0.052726	D	0.89904	0.6850	N	0.08118	0	0.80722	D	1	B;B;B	0.14805	0.01;0.011;0.007	B;B;B	0.13407	0.009;0.007;0.002	D	0.85559	0.1226	10	0.28530	T	0.3	-7.6461	12.9103	0.58177	0.0:0.3978:0.6022:0.0	.	535;729;731	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	C	729;731;731	ENSP00000376533:S729C;ENSP00000376534:S731C;ENSP00000348087:S731C	ENSP00000348087:S731C	S	-	2	0	BAZ2B	159995622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.316000	0.51960	2.659000	0.90383	0.643000	0.83706	TCT	BAZ2B	-	superfamily_DNA-bd_integrase-typ		0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	G			160287376	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	C
BCAT1	586	genome.wustl.edu	37	12	24995103	24995103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:24995103G>A	ENST00000261192.7	-	7	1256	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Nonsense_Mutation_p.Q183*|BCAT1_ENST00000539780.1_Nonsense_Mutation_p.Q207*|BCAT1_ENST00000539282.1_Nonsense_Mutation_p.Q256*|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.Q243*	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	244					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACAGGACCTGCTGACACCCA	0.413																																																	0													87.0	84.0	85.0					12																	24995103		1928	4148	6076	SO:0001587	stop_gained	586				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.730C>T	12.37:g.24995103G>A	ENSP00000261192:p.Gln244*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Nonsense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.Q244*	ENST00000261192.7	37	c.730	CCDS44845.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.963360	0.97967	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.2795	19.0868	0.93206	0.0:0.0:1.0:0.0	.	.	.	.	X	244;243;183;256;207	.	ENSP00000261192:Q244X	Q	-	1	0	BCAT1	24886370	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	9.458000	0.97634	2.506000	0.84524	0.563000	0.77884	CAG	BCAT1	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.413	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	HGNC	protein_coding	OTTHUMT00000402080.1	G	NM_005504		24995103	-1	no_errors	ENST00000261192	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BCL11A	53335	genome.wustl.edu	37	2	60695969	60695969	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:60695969C>G	ENST00000335712.6	-	3	613		c.e3-1		BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Splice_Site|BCL11A_ENST00000359629.5_Splice_Site|BCL11A_ENST00000356842.4_Splice_Site|BCL11A_ENST00000477659.1_Splice_Site	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGAAGTTTATCTGTGAAAGAA	0.458			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													54.0	55.0	54.0					2																	60695969		2203	4300	6503	SO:0001630	splice_region_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.386-1G>C	2.37:g.60695969C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Splice_Site	SNP	-	e3-1	ENST00000335712.6	37	c.386-1	CCDS1862.1	2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834749	0.71373	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000335712	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1117	0.65126	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL11A	60549473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.676000	0.37565	2.710000	0.92621	0.591000	0.81541	.	BCL11A	-	-		0.458	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	C	NM_022893	Intron	60695969	-1	no_errors	ENST00000335712	ensembl	human	known	70_37	splice_site	SNP	1.000	G
BCLAF1	9774	genome.wustl.edu	37	6	136597209	136597209	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:136597209G>C	ENST00000531224.1	-	5	1706	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S483C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S483C|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S483C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S485C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	485					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATTCTTTCAGAATTTTTGTC	0.353																																					Colon(142;1534 1789 5427 7063 28491)												0													152.0	160.0	157.0					6																	136597209		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1454C>G	6.37:g.136597209G>C	ENSP00000435210:p.Ser485Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.S485C	ENST00000531224.1	37	c.1454	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310816	0.60414	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	5.22	5.22	0.72569	.	0.138115	0.38436	N	0.001692	T	0.16854	0.0405	N	0.08118	0	0.46478	D	0.999064	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74023	0.982;0.947;0.982	T	0.39057	-0.9632	10	0.72032	D	0.01	-6.6885	19.2184	0.93786	0.0:0.0:1.0:0.0	.	483;483;485	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	C	485;483;485;483;483;485	ENSP00000435210:S485C;ENSP00000229446:S483C;ENSP00000435441:S485C;ENSP00000434826:S483C;ENSP00000376159:S483C;ENSP00000431734:S485C	ENSP00000229446:S483C	S	-	2	0	BCLAF1	136638902	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.100000	0.50275	2.628000	0.89032	0.454000	0.30748	TCT	BCLAF1	-	NULL		0.353	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	G	NM_014739		136597209	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	C
BCLAF1	9774	genome.wustl.edu	37	6	136599535	136599535	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:136599535G>C	ENST00000531224.1	-	4	736	c.484C>G	c.(484-486)Cag>Gag	p.Q162E	BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q160E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q160E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q162E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q160E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q162E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	162					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTTTTTCCTGAGACCCTCGT	0.433																																					Colon(142;1534 1789 5427 7063 28491)												0													185.0	197.0	193.0					6																	136599535		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.484C>G	6.37:g.136599535G>C	ENSP00000435210:p.Gln162Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.Q162E	ENST00000531224.1	37	c.484	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	4.548	0.101689	0.08731	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.64	5.64	0.86602	.	0.214043	0.32703	N	0.005748	T	0.03305	0.0096	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.18310	0.007;0.027;0.007;0.004	B;B;B;B	0.14023	0.01;0.01;0.01;0.01	T	0.25537	-1.0129	10	0.07813	T	0.8	-8.6728	10.3726	0.44064	0.0711:0.0:0.7928:0.136	.	160;160;162;162	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	E	162;160;162;162;160;160;162	ENSP00000435210:Q162E;ENSP00000229446:Q160E;ENSP00000435441:Q162E;ENSP00000436501:Q162E;ENSP00000434826:Q160E;ENSP00000376159:Q160E;ENSP00000431734:Q162E	ENSP00000229446:Q160E	Q	-	1	0	BCLAF1	136641228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.269000	0.58890	2.660000	0.90430	0.557000	0.71058	CAG	BCLAF1	-	NULL		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	G	NM_014739		136599535	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	C
BCR	613	genome.wustl.edu	37	22	23524281	23524281	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:23524281C>T	ENST00000305877.8	+	1	1885	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	BCR_ENST00000398512.5_Silent_p.F378F|BCR_ENST00000359540.3_Silent_p.F378F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	378	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AACAGTCCTTCGACAGCAGCA	0.672			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													47.0	37.0	40.0					22																	23524281		2203	4300	6503	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1134C>T	22.37:g.23524281C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.F378	ENST00000305877.8	37	c.1134	CCDS13806.1	22																																																																																			BCR	-	NULL		0.672	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	C	NM_004327		23524281	+1	no_errors	ENST00000305877	ensembl	human	known	70_37	silent	SNP	0.111	T
BEST1	7439	genome.wustl.edu	37	11	61722613	61722613	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61722613G>C	ENST00000378043.4	+	3	830	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	BEST1_ENST00000435278.2_Missense_Mutation_p.E63Q|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.E3Q|BEST1_ENST00000534553.1_5'UTR|BEST1_ENST00000526988.1_5'Flank|BEST1_ENST00000449131.2_Missense_Mutation_p.E3Q	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	63					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GCTGATGTTTGAGAAACTGAC	0.597																																																	0													185.0	151.0	162.0					11																	61722613		2202	4299	6501	SO:0001583	missense	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.187G>C	11.37:g.61722613G>C	ENSP00000367282:p.Glu63Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.E3Q	ENST00000378043.4	37	c.7	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.202653	0.94997	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000435278;ENST00000449131	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.95884	3.735	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.988;0.992;0.998;0.999;0.998	D	0.98298	1.0517	10	0.87932	D	0	-30.1868	18.0549	0.89361	0.0:0.0:1.0:0.0	.	63;3;3;63;3	B7Z375;B7Z336;O76090-4;O76090;O76090-3	.;.;.;BEST1_HUMAN;.	Q	63;3;63;3	ENSP00000367282:E63Q;ENSP00000367281:E3Q;ENSP00000408390:E63Q;ENSP00000399709:E3Q	ENSP00000367281:E3Q	E	+	1	0	BEST1	61479189	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.806000	0.86020	2.351000	0.79841	0.467000	0.42956	GAG	BEST1	-	NULL		0.597	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	G	NM_004183		61722613	+1	no_errors	ENST00000449131	ensembl	human	known	70_37	missense	SNP	1.000	C
BLID	414899	genome.wustl.edu	37	11	121986323	121986323	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121986323G>A	ENST00000560104.1	-	1	600	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	103					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		CTCAGCAGAGGAATTGCATAA	0.448																																																	0													102.0	98.0	99.0					11																	121986323		2202	4299	6501	SO:0001583	missense	414899			AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.308C>T	11.37:g.121986323G>A	ENSP00000453153:p.Ser103Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L416	Missense_Mutation	SNP	NULL	p.S103F	ENST00000560104.1	37	c.308	CCDS31693.1	11	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681475	0.47991	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	3.52	2.61	0.31194	.	.	.	.	.	T	0.35068	0.0919	N	0.08118	0	0.18873	N	0.999981	D	0.76494	0.999	D	0.79784	0.993	T	0.10451	-1.0629	8	0.87932	D	0	.	6.5886	0.22634	0.1296:0.0:0.8704:0.0	.	103	Q8IZY5	BLID_HUMAN	F	103	.	ENSP00000448995:S103F	S	-	2	0	BLID;AP001924.1	121491533	0.323000	0.24643	0.503000	0.27626	0.672000	0.39443	2.104000	0.41815	1.060000	0.40578	0.591000	0.81541	TCC	BLID	-	NULL		0.448	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLID	HGNC	protein_coding	OTTHUMT00000387656.1	G	NM_001001786		121986323	-1	no_errors	ENST00000560104	ensembl	human	known	70_37	missense	SNP	0.594	A
BMP1	649	genome.wustl.edu	37	8	22064467	22064467	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22064467C>A	ENST00000306385.5	+	17	3004	c.2334C>A	c.(2332-2334)tcC>tcA	p.S778S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	778	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGCCATCTCCAGCACCCCCG	0.642																																																	0													81.0	62.0	68.0					8																	22064467		2203	4300	6503	SO:0001819	synonymous_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2334C>A	8.37:g.22064467C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.S778	ENST00000306385.5	37	c.2334	CCDS6026.1	8																																																																																			BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.642	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	C	NM_006132		22064467	+1	no_errors	ENST00000306385	ensembl	human	known	70_37	silent	SNP	0.978	A
BNIP2	663	genome.wustl.edu	37	15	59955924	59955924	+	3'UTR	SNP	C	C	G	rs574298470	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:59955924C>G	ENST00000607373.1	-	0	1491				BNIP2_ENST00000267859.3_3'UTR|BNIP2_ENST00000478981.1_5'UTR|AC092755.4_ENST00000441746.1_RNA	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2						apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TATATTATTTCTTTCCTTTGC	0.274																																					Ovarian(174;1936 1978 6671 8240 38212)												0																																										SO:0001624	3_prime_UTR_variant	663			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.*344G>C	15.37:g.59955924C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DS94	RNA	SNP	-	NULL	ENST00000607373.1	37	NULL		15																																																																																			BNIP2	-	-		0.274	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	C	NM_004330		59955924	-1	no_errors	ENST00000478981	ensembl	human	known	70_37	rna	SNP	1.000	G
BPIFB6	128859	genome.wustl.edu	37	20	31622596	31622596	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:31622596C>T	ENST00000349552.1	+	4	330	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	110						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGAGATCATCGTGGCCCTGA	0.592																																																	0													104.0	85.0	92.0					20																	31622596		2203	4300	6503	SO:0001819	synonymous_variant	128859			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.330C>T	20.37:g.31622596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.I110	ENST00000349552.1	37	c.330	CCDS13211.1	20																																																																																			BPIFB6	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.592	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	HGNC	protein_coding	OTTHUMT00000078658.2	C	NM_174897		31622596	+1	no_errors	ENST00000349552	ensembl	human	known	70_37	silent	SNP	0.392	T
BPIFB3	359710	genome.wustl.edu	37	20	31656710	31656710	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:31656710C>T	ENST00000375494.3	+	10	1080	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	360					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGTCTCCCTCCCAGCCAACA	0.612																																																	0													131.0	95.0	107.0					20																	31656710		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1080C>T	20.37:g.31656710C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDX7	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L360	ENST00000375494.3	37	c.1080	CCDS13212.1	20																																																																																			BPIFB3	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.612	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	C	NM_182658		31656710	+1	no_errors	ENST00000375494	ensembl	human	known	70_37	silent	SNP	0.889	T
BPIFC	254240	genome.wustl.edu	37	22	32843292	32843292	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:32843292G>A	ENST00000397452.1	-	4	391	c.281C>T	c.(280-282)tCa>tTa	p.S94L	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.S94L|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	94						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAAAGCCAATGAGGTATTTGG	0.448																																																	0													110.0	99.0	103.0					22																	32843292		2203	4300	6503	SO:0001583	missense	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.281C>T	22.37:g.32843292G>A	ENSP00000380594:p.Ser94Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S94L	ENST00000397452.1	37	c.281	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697240	0.68386	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.06849	3.25;3.25	5.87	5.87	0.94306	.	0.222293	0.41097	D	0.000949	T	0.28962	0.0719	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00042	-1.2229	10	0.51188	T	0.08	-16.2029	16.0731	0.80948	0.0:0.0:1.0:0.0	.	94	Q8NFQ6	BPIFC_HUMAN	L	94	ENSP00000380594:S94L;ENSP00000300399:S94L	ENSP00000300399:S94L	S	-	2	0	BPIFC	31173292	0.993000	0.37304	0.676000	0.29932	0.400000	0.30750	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	TCA	BPIFC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.448	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	G	NM_174932		32843292	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	missense	SNP	0.958	A
BPTF	2186	genome.wustl.edu	37	17	65908690	65908690	+	Missense_Mutation	SNP	G	G	A	rs35770209		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:65908690G>A	ENST00000321892.4	+	13	5129	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K	BPTF_ENST00000306378.6_Missense_Mutation_p.E1564K|BPTF_ENST00000424123.3_Missense_Mutation_p.E1551K|BPTF_ENST00000335221.5_Missense_Mutation_p.E1690K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1690					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTTATTGATGAAAATGGTCT	0.373																																																	0													74.0	80.0	78.0					17																	65908690		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5068G>A	17.37:g.65908690G>A	ENSP00000315454:p.Glu1690Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1690K	ENST00000321892.4	37	c.5068		17	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778592	0.31502	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62498	0.02;0.03;0.02	5.47	4.42	0.53409	.	.	.	.	.	T	0.43545	0.1252	N	0.08118	0	0.24763	N	0.992913	P;B	0.34615	0.459;0.4	B;B	0.33960	0.16;0.173	T	0.42749	-0.9433	9	0.62326	D	0.03	.	12.9655	0.58481	0.0:0.3815:0.6185:0.0	.	1564;1690	Q12830-2;Q12830-4	.;.	K	1564;1690;1690	ENSP00000307208:E1564K;ENSP00000334351:E1690K;ENSP00000315454:E1690K	ENSP00000307208:E1564K	E	+	1	0	BPTF	63339152	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.157000	0.58144	2.728000	0.93425	0.650000	0.86243	GAA	BPTF	-	NULL		0.373	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65908690	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	A
BRD4	23476	genome.wustl.edu	37	19	15349979	15349979	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15349979C>T	ENST00000263377.2	-	18	3894	c.3673G>A	c.(3673-3675)Gag>Aag	p.E1225K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1225	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGGAACTGCTCGAAGCTGTCG	0.632			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													34.0	34.0	34.0					19																	15349979		2203	4299	6502	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3673G>A	19.37:g.15349979C>T	ENSP00000263377:p.Glu1225Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E1225K	ENST00000263377.2	37	c.3673	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	14.06	2.422566	0.43020	.	.	ENSG00000141867	ENST00000263377	T	0.02787	4.16	4.76	4.76	0.60689	.	0.000000	0.53938	D	0.000056	T	0.09158	0.0226	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.17992	-1.0351	10	0.62326	D	0.03	-26.5384	16.5687	0.84605	0.0:1.0:0.0:0.0	.	1225	O60885	BRD4_HUMAN	K	1225	ENSP00000263377:E1225K	ENSP00000263377:E1225K	E	-	1	0	BRD4	15210979	1.000000	0.71417	0.986000	0.45419	0.248000	0.25809	7.314000	0.78988	2.172000	0.68678	0.550000	0.68814	GAG	BRD4	-	NULL		0.632	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15349979	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD8	10902	genome.wustl.edu	37	5	137513280	137513280	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137513280C>A	ENST00000254900.5	-	2	467	c.96G>T	c.(94-96)atG>atT	p.M32I	BRD8_ENST00000411594.2_Missense_Mutation_p.M32I|BRD8_ENST00000230901.5_Missense_Mutation_p.M32I|BRD8_ENST00000402931.1_Missense_Mutation_p.M32I|KIF20A_ENST00000394894.3_5'Flank|BRD8_ENST00000455658.2_Nonsense_Mutation_p.E15*|KIF20A_ENST00000508792.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	32					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CGCCACTTCTCATGACAGAAG	0.413																																																	0													121.0	110.0	114.0					5																	137513280		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.96G>T	5.37:g.137513280C>A	ENSP00000254900:p.Met32Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E15*	ENST00000254900.5	37	c.43	CCDS4198.1	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	35|35|35	5.591266|5.591266|5.591266	0.96590|0.96590|0.96590	.|.|.	.|.|.	ENSG00000112983|ENSG00000112983|ENSG00000112983	ENST00000455658|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000430331|ENST00000441656	.|T;T;T;T;T;T;T|.	.|0.30981|.	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	.|.|.	.|0.080882|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.66218|.	.|0.2767|.	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|P;P;P;P|.	.|0.43788|.	.|0.634;0.75;0.75;0.817|.	.|B;B;B;B|.	.|0.39339|.	.|0.117;0.233;0.233;0.297|.	.|T|.	.|0.59500|.	.|-0.7443|.	.|9|.	0.72032|0.59425|.	D|D|.	0.01|0.04|.	-6.9414|-6.9414|-6.9414	19.3279|19.3279|19.3279	0.94270|0.94270|0.94270	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|32;32;32;32|.	.|A8K1N6;Q9H0E9-4;Q9H0E9-2;Q9H0E9|.	.|.;.;.;BRD8_HUMAN|.	X|I|L	15|32;27;27;32;32;32;32|26	.|ENSP00000254900:M32I;ENSP00000398067:M27I;ENSP00000398873:M27I;ENSP00000230901:M32I;ENSP00000384845:M32I;ENSP00000394330:M32I;ENSP00000407414:M32I|.	ENSP00000408396:E15X|ENSP00000230901:M32I|.	E|M|X	-|-|-	1|3|2	0|0|2	BRD8|BRD8|BRD8	137541179|137541179|137541179	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	5.901000|5.901000|5.901000	0.69861|0.69861|0.69861	2.803000|2.803000|2.803000	0.96430|0.96430|0.96430	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAG|ATG|TGA	BRD8	-	superfamily_Peptidase_M20_dimer		0.413	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	C	NM_006696		137513280	-1	no_errors	ENST00000455658	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BRDT	676	genome.wustl.edu	37	1	92470029	92470029	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:92470029C>T	ENST00000362005.3	+	18	2865	c.2447C>T	c.(2446-2448)tCa>tTa	p.S816L	BRDT_ENST00000394530.3_Missense_Mutation_p.S770L|BRDT_ENST00000402388.1_Missense_Mutation_p.S816L|BRDT_ENST00000399546.2_Missense_Mutation_p.S816L|BRDT_ENST00000370389.2_Missense_Mutation_p.S743L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	816					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTGAAACCATCAGGTGTAATG	0.363																																																	0													85.0	93.0	90.0					1																	92470029		2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2447C>T	1.37:g.92470029C>T	ENSP00000354568:p.Ser816Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S816L	ENST00000362005.3	37	c.2447	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239129	0.58995	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.08634	3.07;3.1;3.07;3.15;3.07	5.49	5.49	0.81192	.	0.166180	0.28821	N	0.014040	T	0.15392	0.0371	M	0.65975	2.015	0.34639	D	0.720423	D;D;P;D	0.58268	0.982;0.982;0.844;0.982	P;P;B;P	0.55667	0.781;0.781;0.164;0.781	T	0.00583	-1.1659	10	0.87932	D	0	-13.3638	18.1405	0.89638	0.0:1.0:0.0:0.0	.	770;770;820;816	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	816;743;816;770;816	ENSP00000354568:S816L;ENSP00000359416:S743L;ENSP00000387822:S816L;ENSP00000378038:S770L;ENSP00000384051:S816L	ENSP00000354568:S816L	S	+	2	0	BRDT	92242617	0.997000	0.39634	0.975000	0.42487	0.551000	0.35334	5.042000	0.64202	2.579000	0.87056	0.484000	0.47621	TCA	BRDT	-	NULL		0.363	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	C	NM_207189		92470029	+1	no_errors	ENST00000362005	ensembl	human	known	70_37	missense	SNP	0.981	T
BRICD5	283870	genome.wustl.edu	37	16	2259701	2259701	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2259701C>T	ENST00000562360.1	-	5	444	c.445G>A	c.(445-447)Gag>Aag	p.E149K	BRICD5_ENST00000328540.3_Missense_Mutation_p.E149K|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	149	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											ACCCAAGCCTCTTGGACCTGT	0.687																																																	0													56.0	69.0	65.0					16																	2259701		2198	4300	6498	SO:0001583	missense	283870			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.445G>A	16.37:g.2259701C>T	ENSP00000455052:p.Glu149Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J7K2|Q8IXU9	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E149K	ENST00000562360.1	37	c.445	CCDS10463.1	16	.	.	.	.	.	.	.	.	.	.	C	9.301	1.053073	0.19907	.	.	ENSG00000182685	ENST00000328540	T	0.78595	-1.19	5.52	3.4	0.38934	BRICHOS (2);	1.093780	0.06760	N	0.781634	T	0.68016	0.2955	.	.	.	0.09310	N	0.999993	B;B	0.30563	0.285;0.152	B;B	0.33846	0.171;0.107	T	0.56032	-0.8046	9	0.25751	T	0.34	-5.9021	9.289	0.37775	0.1619:0.681:0.1571:0.0	.	149;149	Q6PL45;Q6PL45-2	CP079_HUMAN;.	K	149	ENSP00000332389:E149K	ENSP00000332389:E149K	E	-	1	0	C16orf79	2199702	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-0.866000	0.04245	1.421000	0.47157	0.561000	0.74099	GAG	BRICD5	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.687	BRICD5-002	KNOWN	basic|CCDS	protein_coding	BRICD5	HGNC	protein_coding	OTTHUMT00000435091.1	C	NM_182563		2259701	-1	no_errors	ENST00000562360	ensembl	human	known	70_37	missense	SNP	0.002	T
BRIP1	83990	genome.wustl.edu	37	17	59821859	59821859	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:59821859C>G	ENST00000259008.2	-	15	2458	c.2191G>C	c.(2191-2193)Gaa>Caa	p.E731Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.E731Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	731					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						TTTGTTTTTTCTCCTCCCTGT	0.353			"""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													163.0	163.0	163.0					17																	59821859		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.2191G>C	17.37:g.59821859C>G	ENSP00000259008:p.Glu731Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E731Q	ENST00000259008.2	37	c.2191	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708521	0.48517	.	.	ENSG00000136492	ENST00000259008	T	0.78364	-1.17	5.67	5.67	0.87782	Helicase, ATP-dependent, c2 type (1);	0.321339	0.33110	N	0.005275	T	0.75273	0.3827	N	0.17838	0.53	0.39764	D	0.972067	P;D	0.54397	0.849;0.966	P;P	0.52856	0.479;0.711	T	0.74515	-0.3640	9	.	.	.	-9.1081	18.7509	0.91814	0.0:1.0:0.0:0.0	.	731;731	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Q	731	ENSP00000259008:E731Q	.	E	-	1	0	BRIP1	57176641	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.300000	0.78841	2.661000	0.90470	0.460000	0.39030	GAA	BRIP1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.353	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59821859	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	1.000	G
BRPF3	27154	genome.wustl.edu	37	6	36168129	36168129	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:36168129G>A	ENST00000357641.6	+	2	283	c.30G>A	c.(28-30)caG>caA	p.Q10Q	BRPF3_ENST00000443324.2_Silent_p.Q10Q|BRPF3_ENST00000339717.7_Silent_p.Q10Q|BRPF3_ENST00000543502.1_Silent_p.Q10Q|BRPF3_ENST00000534694.1_Silent_p.Q10Q|BRPF3_ENST00000534400.1_Silent_p.Q10Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	10					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGTCCCGGCAGAATGCCGAGG	0.622																																																	0													38.0	40.0	40.0					6																	36168129		2203	4300	6503	SO:0001819	synonymous_variant	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.30G>A	6.37:g.36168129G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.Q10	ENST00000357641.6	37	c.30	CCDS34437.1	6																																																																																			BRPF3	-	NULL		0.622	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	G	NM_015695		36168129	+1	no_errors	ENST00000357641	ensembl	human	known	70_37	silent	SNP	0.994	A
BRSK2	9024	genome.wustl.edu	37	11	1467069	1467069	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1467069C>A	ENST00000528841.1	+	12	1542	c.1158C>A	c.(1156-1158)ctC>ctA	p.L386L	BRSK2_ENST00000526678.1_Silent_p.L386L|BRSK2_ENST00000308219.9_Silent_p.L386L|BRSK2_ENST00000544817.1_Silent_p.L81L|BRSK2_ENST00000308230.5_Silent_p.L386L|BRSK2_ENST00000531197.1_Silent_p.L386L|BRSK2_ENST00000382179.1_Silent_p.L432L|BRSK2_ENST00000528710.1_Silent_p.L326L			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	386					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGAGGTGCTCAGCGTGACGG	0.687																																																	0													37.0	48.0	44.0					11																	1467069		2173	4265	6438	SO:0001819	synonymous_variant	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1158C>A	11.37:g.1467069C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L432	ENST00000528841.1	37	c.1296	CCDS58107.1	11																																																																																			BRSK2	-	superfamily_Kinase-like_dom		0.687	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	C	NM_003957		1467069	+1	no_errors	ENST00000382179	ensembl	human	known	70_37	silent	SNP	0.998	A
BSN	8927	genome.wustl.edu	37	3	49689465	49689465	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49689465C>A	ENST00000296452.4	+	5	2590	c.2476C>A	c.(2476-2478)Ctt>Att	p.L826I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	826					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTGTCCCCTCTTCCACCCCA	0.607																																																	0													47.0	54.0	51.0					3																	49689465		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2476C>A	3.37:g.49689465C>A	ENSP00000296452:p.Leu826Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.L826I	ENST00000296452.4	37	c.2476	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	c	7.088	0.571494	0.13623	.	.	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.01	3.11	0.35812	.	0.274697	0.29066	N	0.013253	T	0.16257	0.0391	L	0.40543	1.245	0.09310	N	1	B	0.21821	0.061	B	0.25291	0.059	T	0.19712	-1.0297	10	0.37606	T	0.19	.	7.0769	0.25209	0.0:0.3607:0.486:0.1534	.	826	Q9UPA5	BSN_HUMAN	I	826	ENSP00000296452:L826I	ENSP00000296452:L826I	L	+	1	0	BSN	49664469	0.003000	0.15002	0.463000	0.27130	0.983000	0.72400	0.146000	0.16180	0.434000	0.26340	0.556000	0.70494	CTT	BSN	-	NULL		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49689465	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.095	A
BSPH1	100131137	genome.wustl.edu	37	19	48495318	48495318	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:48495318G>C	ENST00000344839.3	-	1	109	c.21C>G	c.(19-21)ctC>ctG	p.L7L	ELSPBP1_ENST00000597519.1_5'Flank|ELSPBP1_ENST00000339841.2_5'Flank	NM_001128326.2	NP_001121798.1	Q075Z2	BSPH1_HUMAN	binder of sperm protein homolog 1	7					single fertilization (GO:0007338)|sperm capacitation (GO:0048240)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)			stomach(2)	2						TTTCCACGAAGAGAAGCATCA	0.473																																																	0													71.0	60.0	64.0					19																	48495318		692	1591	2283	SO:0001819	synonymous_variant	100131137			DQ227497	CCDS46135.1	19q13.32	2012-09-20				ENSG00000188334			33906	protein-coding gene	gene with protein product	"""epididymal sperm binding protein 2"", ""bovine seminal plasma protein homolog 1"""	612213				17085770, 18923155	Standard	NM_001128326		Approved	ELSPBP2, BSP1	uc002phs.1	Q075Z2		ENST00000344839.3:c.21C>G	19.37:g.48495318G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIZ5	Silent	SNP	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.L7	ENST00000344839.3	37	c.21	CCDS46135.1	19																																																																																			BSPH1	-	NULL		0.473	BSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPH1	HGNC	protein_coding	OTTHUMT00000465206.1	G	NM_001128326		48495318	-1	no_errors	ENST00000344839	ensembl	human	known	70_37	silent	SNP	0.000	C
BSPRY	54836	genome.wustl.edu	37	9	116116519	116116519	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116116519G>A	ENST00000374183.4	+	2	240		c.e2-1		BSPRY_ENST00000462085.1_Splice_Site	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing						calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ttgtgtTGCAGAACAAGATTG	0.522																																																	0													115.0	122.0	119.0					9																	116116519		2116	4238	6354	SO:0001630	splice_region_variant	54836			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.202-1G>A	9.37:g.116116519G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Splice_Site	SNP	-	e2-1	ENST00000374183.4	37	c.202-1	CCDS43868.1	9	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405006	0.62288	.	.	ENSG00000119411	ENST00000374183	.	.	.	5.01	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8736	0.57978	0.0:0.1635:0.8364:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BSPRY	115156340	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.753000	0.68736	1.099000	0.41499	0.591000	0.81541	.	BSPRY	-	-		0.522	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPRY	HGNC	protein_coding	OTTHUMT00000055399.1	G	NM_017688	Intron	116116519	+1	no_errors	ENST00000374183	ensembl	human	known	70_37	splice_site	SNP	1.000	A
BST1	683	genome.wustl.edu	37	4	15713435	15713435	+	Missense_Mutation	SNP	G	G	A	rs375412643		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:15713435G>A	ENST00000265016.4	+	4	652	c.457G>A	c.(457-459)Gat>Aat	p.D153N	BST1_ENST00000382346.3_Missense_Mutation_p.D168N	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	153					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CTTAGGACTCGATTACCAATC	0.383																																																	0								G	ASN/ASP	0,4406		0,0,2203	138.0	133.0	135.0		457	4.8	0.7	4		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	BST1	NM_004334.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	153/319	15713435	1,13005	2203	4300	6503	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.457G>A	4.37:g.15713435G>A	ENSP00000265016:p.Asp153Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.D153N	ENST00000265016.4	37	c.457	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334527	0.11013	0.0	1.16E-4	ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445	T;T;T	0.12465	2.68;2.68;2.68	5.64	4.8	0.61643	.	0.359218	0.31167	N	0.008130	T	0.18593	0.0446	L	0.27053	0.805	0.49389	D	0.999788	D	0.89917	1.0	D	0.78314	0.991	T	0.08330	-1.0727	10	0.06365	T	0.9	-28.6425	10.4866	0.44726	0.0895:0.0:0.9105:0.0	.	153	Q10588	BST1_HUMAN	N	153;168;3	ENSP00000265016:D153N;ENSP00000371783:D168N;ENSP00000420925:D3N	ENSP00000265016:D153N	D	+	1	0	BST1	15322533	0.999000	0.42202	0.669000	0.29828	0.325000	0.28411	3.569000	0.53827	1.384000	0.46424	0.655000	0.94253	GAT	BST1	-	pfam_ADP-ribosyl_cyclase		0.383	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	G	NM_004334		15713435	+1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	0.940	A
BTBD18	643376	genome.wustl.edu	37	11	57512547	57512547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57512547G>A	ENST00000436147.3	-	2	1385	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	RP11-691N7.6_ENST00000531074.1_Intron|TMX2-CTNND1_ENST00000528395.1_Intron|BTBD18_ENST00000422652.1_Nonsense_Mutation_p.Q400*			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	400										endometrium(3)|kidney(1)	4						GAGAATGGCTGAGTTCCTGAA	0.502																																																	0													37.0	33.0	34.0					11																	57512547		692	1591	2283	SO:0001587	stop_gained	643376				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.1198C>T	11.37:g.57512547G>A	ENSP00000397020:p.Gln400*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.Q400*	ENST00000436147.3	37	c.1198	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904314	0.52333	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	.	.	.	5.44	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.825	0.29309	0.0825:0.0:0.7567:0.1609	.	.	.	.	X	400	.	ENSP00000394472:Q400X	Q	-	1	0	BTBD18	57269123	0.001000	0.12720	0.002000	0.10522	0.233000	0.25261	0.631000	0.24568	0.836000	0.34901	0.655000	0.94253	CAG	BTBD18	-	NULL		0.502	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	G	NM_001145101		57512547	-1	no_errors	ENST00000422652	ensembl	human	known	70_37	nonsense	SNP	0.008	A
BTBD18	643376	genome.wustl.edu	37	11	57518610	57518610	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57518610G>A	ENST00000436147.3	-	1	238	c.51C>T	c.(49-51)ctC>ctT	p.L17L	RP11-691N7.6_ENST00000531074.1_Intron|TMX2-CTNND1_ENST00000528395.1_Intron|CTNND1_ENST00000524630.1_5'Flank|CTNND1_ENST00000529919.1_5'Flank|CTNND1_ENST00000399039.4_5'Flank|BTBD18_ENST00000422652.1_Silent_p.L17L			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	17										endometrium(3)|kidney(1)	4						AAGCTAACCTGAGGAACCGGG	0.483																																																	0													72.0	80.0	78.0					11																	57518610		692	1591	2283	SO:0001819	synonymous_variant	643376				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.51C>T	11.37:g.57518610G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L17	ENST00000436147.3	37	c.51	CCDS44603.1	11																																																																																			BTBD18	-	superfamily_BTB/POZ_fold		0.483	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	G	NM_001145101		57518610	-1	no_errors	ENST00000422652	ensembl	human	known	70_37	silent	SNP	0.995	A
BTBD7	55727	genome.wustl.edu	37	14	93760445	93760445	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:93760445C>G	ENST00000334746.5	-	3	1228	c.921G>C	c.(919-921)ttG>ttC	p.L307F	BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000298896.3_Missense_Mutation_p.L307F|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.L307F	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	307	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGGAGTCCTCAAAGTTCGGT	0.398																																																	0													59.0	55.0	57.0					14																	93760445		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.921G>C	14.37:g.93760445C>G	ENSP00000335615:p.Leu307Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L307F	ENST00000334746.5	37	c.921	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768353	0.31320	.	.	ENSG00000011114	ENST00000334746;ENST00000553975;ENST00000298896;ENST00000555525	T;T;T	0.67698	-0.28;-0.28;-0.28	5.59	3.78	0.43462	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.994;0.998	T	0.75033	-0.3460	10	0.87932	D	0	.	6.9579	0.24582	0.0:0.6201:0.0:0.3799	.	307;307;307	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	F	307;17;307;307	ENSP00000335615:L307F;ENSP00000298896:L307F;ENSP00000451408:L307F	ENSP00000298896:L307F	L	-	3	2	BTBD7	92830198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.409000	0.34680	0.729000	0.32403	0.655000	0.94253	TTG	BTBD7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.398	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	C	NM_001002860		93760445	-1	no_errors	ENST00000334746	ensembl	human	known	70_37	missense	SNP	1.000	G
BTBD9	114781	genome.wustl.edu	37	6	38548046	38548046	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:38548046G>C	ENST00000481247.1	-	5	1133	c.982C>G	c.(982-984)Cag>Gag	p.Q328E	BTBD9_ENST00000314100.6_Missense_Mutation_p.Q260E|BTBD9_ENST00000419706.2_Missense_Mutation_p.Q269E|BTBD9_ENST00000408958.1_Missense_Mutation_p.Q260E|BTBD9_ENST00000403056.1_Missense_Mutation_p.Q328E	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	328					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATGGATGGCTGACCTAGCTTA	0.408																																																	0													125.0	120.0	122.0					6																	38548046		1893	4116	6009	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.982C>G	6.37:g.38548046G>C	ENSP00000418751:p.Gln328Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.Q328E	ENST00000481247.1	37	c.982	CCDS47418.1	6	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255596	0.39896	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98075	-4.7;-4.7;-0.91;-4.7;-4.7	5.48	5.48	0.80851	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.103368	0.64402	D	0.000002	D	0.95354	0.8492	M	0.79258	2.445	0.58432	D	0.999997	B;B	0.28900	0.227;0.112	B;B	0.29353	0.101;0.085	D	0.95618	0.8678	10	0.09338	T	0.73	.	19.3387	0.94332	0.0:0.0:1.0:0.0	.	269;328	Q494V9;Q96Q07	.;BTBD9_HUMAN	E	260;328;269;328;260	ENSP00000323408:Q260E;ENSP00000418751:Q328E;ENSP00000415365:Q269E;ENSP00000386121:Q328E;ENSP00000386211:Q260E	ENSP00000323408:Q260E	Q	-	1	0	BTBD9	38656024	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.803000	0.85983	2.588000	0.87417	0.655000	0.94253	CAG	BTBD9	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.408	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	G	NM_152733		38548046	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	missense	SNP	1.000	C
BTF3	689	genome.wustl.edu	37	5	72801062	72801062	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:72801062G>A	ENST00000335895.8	+	6	639	c.488G>A	c.(487-489)tGa>tAa	p.*163*	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000380591.3_Silent_p.*207*	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GAGGCAAACTGAATTGAGTCA	0.313																																																	0													88.0	89.0	89.0					5																	72801062		2203	4299	6502	SO:0001819	synonymous_variant	689			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.488G>A	5.37:g.72801062G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWI7|E9PCP5	Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.*207	ENST00000335895.8	37	c.620	CCDS4019.1	5																																																																																			BTF3	-	NULL		0.313	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTF3	HGNC	protein_coding	OTTHUMT00000219815.2	G	NM_001207		72801062	+1	no_errors	ENST00000380591	ensembl	human	known	70_37	silent	SNP	1.000	A
BTN3A1	11119	genome.wustl.edu	37	6	26411346	26411346	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:26411346G>C	ENST00000289361.6	+	8	1342	c.974G>C	c.(973-975)aGa>aCa	p.R325T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R273T|BTN3A1_ENST00000425234.2_Missense_Mutation_p.R325T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.R325T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	325	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGGGAGAGAGACATTCAGCC	0.418																																																	0													176.0	173.0	174.0					6																	26411346		2203	4300	6503	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.974G>C	6.37:g.26411346G>C	ENSP00000289361:p.Arg325Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.R325T	ENST00000289361.6	37	c.974	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	0.942	-0.709145	0.03230	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.46819	3.96;1.22;3.91;0.86	1.01	-2.01	0.07410	B30.2/SPRY domain (1);	.	.	.	.	T	0.11922	0.0290	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.32467	0.22;0.372;0.241;0.049	B;B;B;B	0.32677	0.039;0.15;0.08;0.026	T	0.19095	-1.0316	9	0.72032	D	0.01	.	2.4591	0.04537	0.5601:0.0:0.2041:0.2358	.	273;325;325;325	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	T	325;325;325;273	ENSP00000420010:R325T;ENSP00000289361:R325T;ENSP00000396684:R325T;ENSP00000406667:R273T	ENSP00000289361:R325T	R	+	2	0	BTN3A1	26519325	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.818000	0.04467	-1.668000	0.01471	-1.133000	0.01973	AGA	BTN3A1	-	pfscan_B30.2/SPRY		0.418	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	G			26411346	+1	no_errors	ENST00000289361	ensembl	human	known	70_37	missense	SNP	0.000	C
BTNL10	100129094	genome.wustl.edu	37	1	228699379	228699379	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:228699379C>T	ENST00000400948.1	-	0	411							A8MVZ5	BTNLA_HUMAN	butyrophilin-like 10							integral component of membrane (GO:0016021)											ACAGTGGCCTCGCCGAACTTT	0.607																																																	0																																												100129094					1q42.13	2014-04-09			ENSG00000215811	ENSG00000215811		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	42540	other	unknown							Standard	NM_001287262		Approved	BUTR1, BTN4		A8MVZ5	OTTHUMG00000153446		1.37:g.228699379C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000400948.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043174	0.55003	.	.	ENSG00000215811	ENST00000400948;ENST00000413130	.	.	.	3.81	-0.377	0.12501	.	.	.	.	.	T	0.47060	0.1425	M	0.64676	1.99	.	.	.	.	.	.	.	.	.	T	0.53408	-0.8443	5	0.42905	T	0.14	.	5.1823	0.15167	0.0:0.4888:0.1895:0.3218	.	.	.	.	K	138;94	.	ENSP00000383732:E138K	E	-	1	0	RP5-915N17.9	226766002	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.168000	0.09925	0.027000	0.15297	-0.720000	0.03607	GAG	BTNL10	-	-		0.607	BTNL10-002	KNOWN	basic	processed_transcript	BTNL10	HGNC	pseudogene	OTTHUMT00000331244.2	C	XM_001722031		228699379	-1	no_errors	ENST00000400948	ensembl	human	known	70_37	rna	SNP	0.002	T
BUB1	699	genome.wustl.edu	37	2	111416087	111416087	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:111416087C>T	ENST00000302759.6	-	13	1534	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	BUB1_ENST00000409311.1_Missense_Mutation_p.M472I|BUB1_ENST00000535254.1_Missense_Mutation_p.M452I	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	472	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GAAACATATTCATGATGAAAC	0.338																																																	0													97.0	94.0	95.0					2																	111416087		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1416G>A	2.37:g.111416087C>T	ENSP00000302530:p.Met472Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.M472I	ENST00000302759.6	37	c.1416	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671425	0.88348	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.59083	1.17;0.29;1.44	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.65498	2.005	0.53688	D	0.999976	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.991;0.996;0.993	T	0.66818	-0.5827	10	0.22706	T	0.39	-24.3956	18.3537	0.90348	0.0:1.0:0.0:0.0	.	452;472;472	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	I	452;472;472;472	ENSP00000441013:M452I;ENSP00000386701:M472I;ENSP00000302530:M472I	ENSP00000302530:M472I	M	-	3	0	BUB1	111132560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.516000	0.67055	2.937000	0.99478	0.650000	0.86243	ATG	BUB1	-	NULL		0.338	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	C	NM_004336		111416087	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	1.000	T
SUPT4H1	6827	genome.wustl.edu	37	17	56423689	56423689	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:56423689G>C	ENST00000225504.3	-	5	353				BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|SUPT4H1_ENST00000577396.1_Intron|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000581540.1_Intron|SUPT4H1_ENST00000580947.1_Intron	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)						chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCAGGAAAAGAAACAGTTCT	0.483																																					NSCLC(25;723 896 19867 29219 40028)												0													90.0	82.0	85.0					17																	56423689		2203	4300	6503	SO:0001627	intron_variant	100506779			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.287-15C>G	17.37:g.56423689G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	RNA	SNP	-	NULL	ENST00000225504.3	37	NULL	CCDS11606.1	17																																																																																			BZRAP1-AS1	-	-		0.483	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZRAP1-AS1	HGNC	protein_coding	OTTHUMT00000444000.1	G	NM_003168		56423689	+1	no_errors	ENST00000580022	ensembl	human	known	70_37	rna	SNP	0.770	C
C11orf65	160140	genome.wustl.edu	37	11	108276164	108276164	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:108276164C>T	ENST00000529391.1	-	5	561	c.552G>A	c.(550-552)atG>atA	p.M184I	C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000393084.1_Missense_Mutation_p.M184I|C11orf65_ENST00000525729.1_Missense_Mutation_p.M135I			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	184										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACATTTGCCTCATCCACTCTA	0.343																																																	0													134.0	129.0	130.0					11																	108276164		2200	4298	6498	SO:0001583	missense	160140			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.552G>A	11.37:g.108276164C>T	ENSP00000436400:p.Met184Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZU4|Q6PCA8	Missense_Mutation	SNP	NULL	p.M184I	ENST00000529391.1	37	c.552	CCDS8340.1	11	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905277	0.72868	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.18	5.18	0.71444	.	0.046925	0.85682	D	0.000000	T	0.55593	0.1930	M	0.73217	2.22	0.41292	D	0.986988	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.58836	-0.7566	10	0.66056	D	0.02	-24.9898	16.5372	0.84375	0.0:1.0:0.0:0.0	.	135;184	B4DZU4;Q8NCR3	.;CK065_HUMAN	I	135;184;184;166	ENSP00000433395:M135I;ENSP00000436400:M184I;ENSP00000376799:M184I;ENSP00000434500:M166I	ENSP00000376799:M184I	M	-	3	0	C11orf65	107781374	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.919000	0.63383	2.564000	0.86499	0.563000	0.77884	ATG	C11orf65	-	NULL		0.343	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	HGNC	protein_coding	OTTHUMT00000390010.3	C	NM_152587		108276164	-1	no_errors	ENST00000393084	ensembl	human	known	70_37	missense	SNP	1.000	T
C11orf57	55216	genome.wustl.edu	37	11	111951136	111951136	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111951136G>A	ENST00000280352.9	+	4	810	c.174G>A	c.(172-174)cgG>cgA	p.R58R	C11orf57_ENST00000532163.1_Silent_p.R29R|C11orf57_ENST00000420986.2_Silent_p.R58R|C11orf57_ENST00000530104.1_Silent_p.R58R|C11orf57_ENST00000393047.3_Silent_p.R58R	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	58										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CTTTTAGCCGGATGCGCAGTG	0.383																																																	0													80.0	83.0	82.0					11																	111951136		2201	4297	6498	SO:0001819	synonymous_variant	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.174G>A	11.37:g.111951136G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.D61N	ENST00000280352.9	37	c.181	CCDS41715.1	11																																																																																			C11orf57	-	NULL		0.383	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	G	NM_018195		111951136	+1	no_errors	ENST00000524989	ensembl	human	known	70_37	missense	SNP	1.000	A
C12orf49	79794	genome.wustl.edu	37	12	117175742	117175742	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:117175742G>C	ENST00000261318.3	-	0	124				RNFT2_ENST00000392549.2_5'Flank|RNFT2_ENST00000407967.3_5'Flank|RNFT2_ENST00000319176.7_5'Flank|RNFT2_ENST00000257575.4_5'Flank|C12orf49_ENST00000536380.1_Missense_Mutation_p.P11A	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49							extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ccggggcgcggAACGCGGCAG	0.801																																																	0													4.0	5.0	5.0					12																	117175742		1965	3732	5697	SO:0001623	5_prime_UTR_variant	79794			AK025068	CCDS9179.1	12q24.22	2012-05-30			ENSG00000111412	ENSG00000111412			26128	protein-coding gene	gene with protein product						12477932	Standard	NM_024738		Approved	FLJ21415	uc001tvz.1	Q9H741	OTTHUMG00000169392	ENST00000261318.3:c.-37C>G	12.37:g.117175742G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GE8	Missense_Mutation	SNP	pfam_UPF0454	p.P11A	ENST00000261318.3	37	c.31	CCDS9179.1	12	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666116	0.47677	.	.	ENSG00000111412	ENST00000536380	.	.	.	3.79	-1.5	0.08691	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30851	-0.9964	7	0.09590	T	0.72	.	3.8747	0.09051	0.3302:0.3685:0.3013:0.0	.	11	F5H6Y2	.	A	11	.	ENSP00000442947:P11A	P	-	1	0	C12orf49	115660125	0.041000	0.20044	0.074000	0.20217	0.976000	0.68499	0.130000	0.15850	-0.619000	0.05648	0.561000	0.74099	CCG	C12orf49	-	NULL		0.801	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf49	HGNC	protein_coding	OTTHUMT00000403847.1	G	NM_024738		117175742	-1	no_errors	ENST00000536380	ensembl	human	known	70_37	missense	SNP	0.023	C
C14orf79	122616	genome.wustl.edu	37	14	105452872	105452872	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:105452872G>C	ENST00000547315.1	+	1	743	c.104G>C	c.(103-105)aGt>aCt	p.S35T	C14orf79_ENST00000550614.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	35										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			AGTGATGACAGTTTGGAATGG	0.637																																																	0													62.0	73.0	69.0					14																	105452872		2087	4197	6284	SO:0001583	missense	122616				CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.104G>C	14.37:g.105452872G>C	ENSP00000450114:p.Ser35Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPK9|Q9BTP4	Missense_Mutation	SNP	NULL	p.S35T	ENST00000547315.1	37	c.104	CCDS42000.1	14	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060258	0.19987	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.51	-4.24	0.03777	.	18.778600	0.00397	U	0.000056	T	0.18173	0.0436	N	0.19112	0.55	0.09310	N	0.999998	B	0.33103	0.397	B	0.26770	0.073	T	0.07986	-1.0744	9	0.41790	T	0.15	6.2415	1.2157	0.01913	0.4541:0.1662:0.2249:0.1548	.	35	Q96F83	CN079_HUMAN	T	35	.	ENSP00000374614:S35T	S	+	2	0	C14orf79	104523917	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.233000	0.02934	-0.499000	0.06623	-0.359000	0.07587	AGT	C14orf79	-	NULL		0.637	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf79	HGNC	protein_coding	OTTHUMT00000409318.1	G	NM_174891		105452872	+1	no_errors	ENST00000547315	ensembl	human	known	70_37	missense	SNP	0.000	C
C15orf43	145645	genome.wustl.edu	37	15	45250686	45250686	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:45250686C>A	ENST00000340827.3	+	3	279	c.262C>A	c.(262-264)Ctt>Att	p.L88I		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	88										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TCATTTCATTCTTCCTCCTGC	0.413																																																	0													78.0	73.0	75.0					15																	45250686		2198	4298	6496	SO:0001583	missense	145645			BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.262C>A	15.37:g.45250686C>A	ENSP00000340644:p.Leu88Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L88I	ENST00000340827.3	37	c.262	CCDS10115.1	15	.	.	.	.	.	.	.	.	.	.	c	19.82	3.898135	0.72639	.	.	ENSG00000167014	ENST00000340827	T	0.65916	-0.18	4.45	4.45	0.53987	.	0.000000	0.49916	D	0.000139	T	0.68302	0.2986	L	0.34521	1.04	0.32894	D	0.512222	D	0.67145	0.996	D	0.72625	0.978	T	0.75800	-0.3190	10	0.87932	D	0	.	12.7724	0.57429	0.0:1.0:0.0:0.0	.	88	Q8NHR7	CO043_HUMAN	I	88	ENSP00000340644:L88I	ENSP00000340644:L88I	L	+	1	0	C15orf43	43037978	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.431000	0.59915	2.479000	0.83701	0.643000	0.83706	CTT	C15orf43	-	NULL		0.413	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf43	HGNC	protein_coding	OTTHUMT00000254032.1	C	NM_152448		45250686	+1	no_errors	ENST00000340827	ensembl	human	known	70_37	missense	SNP	0.997	A
C16orf91	283951	genome.wustl.edu	37	16	1470076	1470076	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:1470076G>A	ENST00000442039.2	-	0	646				C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000310355.1_Silent_p.L313L	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGATCTGCTGAGATTCTGCT	0.552																																																	0													118.0	109.0	112.0					16																	1470076		2199	4300	6499	SO:0001624	3_prime_UTR_variant	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.*171C>T	16.37:g.1470076G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RZ0	Silent	SNP	prints_CCSMST1	p.L313	ENST00000442039.2	37	c.939		16																																																																																			C16orf91	-	NULL		0.552	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470076	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	silent	SNP	0.000	A
C16orf91	283951	genome.wustl.edu	37	16	1470400	1470400	+	Silent	SNP	G	G	C	rs139598395		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:1470400G>C	ENST00000442039.2	-	2	322	c.246C>G	c.(244-246)ctC>ctG	p.L82L	C16orf91_ENST00000563974.1_Silent_p.L15L|C16orf91_ENST00000310355.1_Silent_p.L239L	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	82						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGAAGCAGCTGAGGGGCAGCA	0.622																																																	0													100.0	95.0	97.0					16																	1470400		2199	4300	6499	SO:0001819	synonymous_variant	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.246C>G	16.37:g.1470400G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RZ0	Silent	SNP	prints_CCSMST1	p.L239	ENST00000442039.2	37	c.717		16																																																																																			C16orf91	-	prints_CCSMST1		0.622	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470400	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	silent	SNP	0.000	C
GAS8	2622	genome.wustl.edu	37	16	90095558	90095558	+	Intron	SNP	C	C	T	rs76646627		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:90095558C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.G65S|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.G65S(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcctacggggcag	0.672																																																	1	Substitution - Missense(1)	lung(1)											25.0	20.0	21.0					16																	90095558		2191	4298	6489	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1428C>T	16.37:g.90095558C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	NULL	p.G65S	ENST00000268699.4	37	c.193	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990885	0.18966	.	.	ENSG00000221819	ENST00000408886	T	0.57595	0.39	1.2	-1.14	0.09741	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.14755	-1.0461	8	.	.	.	.	2.4936	0.04616	0.0:0.4385:0.3231:0.2384	.	73	O95177	CP003_HUMAN	S	65	ENSP00000386218:G65S	.	G	-	1	0	C16orf3	88623059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.145000	0.10265	-0.326000	0.08564	0.407000	0.27541	GGC	C16orf3	-	NULL		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf3	HGNC	protein_coding	OTTHUMT00000272877.2	C			90095558	-1	no_errors	ENST00000408886	ensembl	human	known	70_37	missense	SNP	0.000	T
C17orf102	400591	genome.wustl.edu	37	17	32904615	32904615	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:32904615G>C	ENST00000357754.1	-	2	523	c.435C>G	c.(433-435)atC>atG	p.I145M		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	145										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						caatgcctgTGATGTTGGAGA	0.468																																																	0													122.0	116.0	118.0					17																	32904615		2016	4190	6206	SO:0001583	missense	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.435C>G	17.37:g.32904615G>C	ENSP00000350392:p.Ile145Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX0|Q6ZTB3	Missense_Mutation	SNP	NULL	p.I145M	ENST00000357754.1	37	c.435	CCDS42297.1	17	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319486	0.23994	.	.	ENSG00000197322	ENST00000357754	T	0.38722	1.12	3.49	2.52	0.30459	.	.	.	.	.	T	0.37237	0.0996	N	0.19112	0.55	0.09310	N	1	D	0.57899	0.981	P	0.54026	0.74	T	0.12116	-1.0560	9	0.87932	D	0	.	6.7135	0.23290	0.1274:0.0:0.8726:0.0	.	145	A2RUQ5	CQ102_HUMAN	M	145	ENSP00000350392:I145M	ENSP00000350392:I145M	I	-	3	3	C17orf102	29928728	0.038000	0.19896	0.000000	0.03702	0.206000	0.24218	1.589000	0.36644	1.065000	0.40693	0.655000	0.94253	ATC	C17orf102	-	NULL		0.468	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	G	NM_207454		32904615	-1	no_errors	ENST00000357754	ensembl	human	known	70_37	missense	SNP	0.000	C
C17orf70	80233	genome.wustl.edu	37	17	79513984	79513984	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:79513984G>C	ENST00000327787.8	-	5	2170	c.2124C>G	c.(2122-2124)atC>atG	p.I708M	C17orf70_ENST00000425898.2_Missense_Mutation_p.I357M|C17orf70_ENST00000537152.1_Missense_Mutation_p.I557M			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	708					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGACACCTTGATGGAAGCCA	0.592																																																	0													8.0	9.0	9.0					17																	79513984		2157	4254	6411	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2124C>G	17.37:g.79513984G>C	ENSP00000333283:p.Ile708Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.I708M	ENST00000327787.8	37	c.2124	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	G	9.746	1.166053	0.21538	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.39056	1.1;1.1;1.1	4.52	3.54	0.40534	.	0.379189	0.22925	N	0.053972	T	0.48429	0.1499	L	0.57536	1.79	0.09310	N	1	P;P	0.52061	0.95;0.95	P;P	0.53809	0.667;0.735	T	0.38672	-0.9650	10	0.87932	D	0	.	7.8532	0.29468	0.0895:0.1617:0.7488:0.0	.	708;357	Q0VG06;E7EVV8	FP100_HUMAN;.	M	708;357;81;557	ENSP00000333283:I708M;ENSP00000399674:I357M;ENSP00000440151:I557M	ENSP00000333283:I708M	I	-	3	3	C17orf70	77124437	1.000000	0.71417	0.007000	0.13788	0.002000	0.02628	2.799000	0.47892	1.106000	0.41623	0.655000	0.94253	ATC	C17orf70	-	NULL		0.592	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	G	NM_025161		79513984	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.056	C
C19orf68	374920	genome.wustl.edu	37	19	48698998	48698998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:48698998G>A	ENST00000328759.7	+	4	1709	c.1677G>A	c.(1675-1677)tgG>tgA	p.W559*	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000600800.1_Intron			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68	559					hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											TTAGAGACTGGAGGGGGCCCC	0.577																																																	0																																										SO:0001587	stop_gained	374920			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.1677G>A	19.37:g.48698998G>A	ENSP00000331363:p.Trp559*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.W559*	ENST00000328759.7	37	c.1677		19	.	.	.	.	.	.	.	.	.	.	G	35	5.468351	0.96274	.	.	ENSG00000185453	ENST00000328759	.	.	.	3.56	3.56	0.40772	.	0.000000	0.37348	N	0.002132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0611	13.03	0.58837	0.0:0.0:1.0:0.0	.	.	.	.	X	559	.	ENSP00000331363:W559X	W	+	3	0	C19orf68	53390810	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	2.696000	0.47052	2.008000	0.58898	0.563000	0.77884	TGG	C19orf68	-	NULL		0.577	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	C19orf68	HGNC	protein_coding	OTTHUMT00000465598.1	G	XM_001713770		48698998	+1	no_errors	ENST00000328759	ensembl	human	known	70_37	nonsense	SNP	1.000	A
C1QC	714	genome.wustl.edu	37	1	22974165	22974165	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22974165G>A	ENST00000374639.3	+	3	745	c.627G>A	c.(625-627)ctG>ctA	p.L209L	C1QC_ENST00000374637.1_Silent_p.L209L|C1QC_ENST00000374640.4_Silent_p.L209L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	209	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGTGCTGCTGAGGTTGCAGG	0.602																																					Ovarian(26;671 750 8290 29071 43278)												0													119.0	114.0	116.0					1																	22974165		2203	4300	6503	SO:0001819	synonymous_variant	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.627G>A	1.37:g.22974165G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z502|Q96DL2|Q96H05	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L209	ENST00000374639.3	37	c.627	CCDS227.1	1																																																																																			C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.602	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	G	NM_172369		22974165	+1	no_errors	ENST00000374637	ensembl	human	known	70_37	silent	SNP	0.467	A
C1QC	714	genome.wustl.edu	37	1	22974171	22974171	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22974171G>A	ENST00000374639.3	+	3	751	c.633G>A	c.(631-633)ttG>ttA	p.L211L	C1QC_ENST00000374637.1_Silent_p.L211L|C1QC_ENST00000374640.4_Silent_p.L211L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTGAGGTTGCAGGTGGGCG	0.607																																					Ovarian(26;671 750 8290 29071 43278)												0													117.0	112.0	114.0					1																	22974171		2203	4300	6503	SO:0001819	synonymous_variant	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.633G>A	1.37:g.22974171G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z502|Q96DL2|Q96H05	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L211	ENST00000374639.3	37	c.633	CCDS227.1	1																																																																																			C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.607	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	G	NM_172369		22974171	+1	no_errors	ENST00000374637	ensembl	human	known	70_37	silent	SNP	0.326	A
C1QL1	10882	genome.wustl.edu	37	17	43037648	43037648	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43037648C>A	ENST00000253407.3	-	2	707	c.685G>T	c.(685-687)Gag>Tag	p.E229*		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	229	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				ATGAAGACCTCGTCGCCGGCG	0.607																																																	0													228.0	180.0	196.0					17																	43037648		2203	4300	6503	SO:0001587	stop_gained	10882			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.685G>T	17.37:g.43037648C>A	ENSP00000253407:p.Glu229*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E229*	ENST00000253407.3	37	c.685	CCDS11492.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.239218	0.97403	.	.	ENSG00000131094	ENST00000253407	.	.	.	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0492	0.53498	0.0:0.914:0.0:0.086	.	.	.	.	X	229	.	ENSP00000253407:E229X	E	-	1	0	C1QL1	40393174	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.623000	0.83113	1.201000	0.43203	0.555000	0.69702	GAG	C1QL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.607	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL1	HGNC	protein_coding	OTTHUMT00000371119.3	C	NM_006688		43037648	-1	no_errors	ENST00000253407	ensembl	human	known	70_37	nonsense	SNP	1.000	A
C1QTNF1	114897	genome.wustl.edu	37	17	77042726	77042726	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:77042726C>A	ENST00000339142.2	+	4	800	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.S92Y|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.S82Y	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	82					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGTACCTCCATGTACCCG	0.592											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76.0	77.0	77.0					17																	77042726		2203	4300	6503	SO:0001583	missense	114897			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.245C>A	17.37:g.77042726C>A	ENSP00000340864:p.Ser82Tyr	Somatic	1172	WXS	Illumina HiSeq	Phase_IV	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.S92Y	ENST00000339142.2	37	c.275	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	c	8.710	0.911905	0.17907	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.77489	-1.09;-1.1	4.21	4.21	0.49690	.	0.435314	0.19443	N	0.114125	T	0.62011	0.2393	N	0.08118	0	0.22639	N	0.99891	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.60239	-0.7302	10	0.87932	D	0	.	15.2695	0.73689	0.0:1.0:0.0:0.0	.	92;92;82	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	Y	82;92;82;92	ENSP00000340864:S82Y;ENSP00000343230:S92Y	ENSP00000340864:S82Y	S	+	2	0	C1QTNF1	74554321	0.318000	0.24598	0.016000	0.15963	0.011000	0.07611	5.713000	0.68415	2.312000	0.78011	0.556000	0.70494	TCC	C1QTNF1	-	NULL		0.592	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2	C	NM_030968		77042726	+1	no_errors	ENST00000354124	ensembl	human	known	70_37	missense	SNP	0.797	A
C1QTNF9	338872	genome.wustl.edu	37	13	24893016	24893016	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:24893016G>A	ENST00000382071.2	+	3	312	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R76Q|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	76	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGAGAACGAGGTTAGTAG	0.453																																																	0													146.0	144.0	145.0					13																	24893016		2203	4298	6501	SO:0001583	missense	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.227G>A	13.37:g.24893016G>A	ENSP00000371503:p.Arg76Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R76Q	ENST00000382071.2	37	c.227	CCDS9306.1	13	.	.	.	.	.	.	.	.	.	.	g	8.821	0.937662	0.18206	.	.	ENSG00000240654	ENST00000382071;ENST00000332018;ENST00000382066	D;D	0.96011	-3.88;-3.88	3.59	1.72	0.24424	.	0.797229	0.11424	N	0.565501	D	0.85691	0.5755	N	0.04090	-0.28	0.26368	N	0.976938	B	0.14438	0.01	B	0.08055	0.003	T	0.75233	-0.3390	10	0.25106	T	0.35	.	5.5661	0.17170	0.186:0.359:0.4549:0.0	.	76	P0C862	C1T9A_HUMAN	Q	76	ENSP00000371503:R76Q;ENSP00000333737:R76Q	ENSP00000333737:R76Q	R	+	2	0	C1QTNF9	23791016	0.021000	0.18746	0.995000	0.50966	0.274000	0.26718	-0.224000	0.09164	0.259000	0.21709	0.603000	0.83216	CGA	C1QTNF9	-	pfam_Collagen		0.453	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	HGNC	protein_coding	OTTHUMT00000044177.1	G	NM_178540		24893016	+1	no_errors	ENST00000332018	ensembl	human	known	70_37	missense	SNP	0.980	A
C1orf168	199920	genome.wustl.edu	37	1	57185933	57185933	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:57185933C>T	ENST00000343433.6	-	18	2124	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	682										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATTGGCAAATCAAATATTCCA	0.338																																																	0													73.0	70.0	71.0					1																	57185933		2203	4294	6497	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2044G>A	1.37:g.57185933C>T	ENSP00000345972:p.Asp682Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.D682N	ENST00000343433.6	37	c.2044	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079000	0.76528	.	.	ENSG00000187889	ENST00000343433	T	0.38401	1.14	4.85	3.93	0.45458	Src homology-3 domain (2);	0.105871	0.40385	N	0.001117	T	0.56156	0.1966	M	0.67953	2.075	0.40517	D	0.980792	D	0.76494	0.999	D	0.70016	0.967	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.907	13.839	0.63426	0.1544:0.8456:0.0:0.0	.	682	Q5VWT5	CA168_HUMAN	N	682	ENSP00000345972:D682N	ENSP00000345972:D682N	D	-	1	0	C1orf168	56958521	0.949000	0.32298	0.914000	0.36105	0.876000	0.50452	1.985000	0.40668	1.381000	0.46364	0.655000	0.94253	GAT	C1orf168	-	superfamily_SH3_domain		0.338	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	C	NM_001004303		57185933	-1	no_errors	ENST00000343433	ensembl	human	known	70_37	missense	SNP	0.971	T
C1orf43	25912	genome.wustl.edu	37	1	154185138	154185138	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154185138C>T	ENST00000368521.5	-	5	539				C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368518.1_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43							integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCTTCTCATTCTTTAGTCttt	0.488																																																	0													25.0	27.0	26.0					1																	154185138		2202	4300	6502	SO:0001627	intron_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.341-38G>A	1.37:g.154185138C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	RNA	SNP	-	NULL	ENST00000368521.5	37	NULL	CCDS41404.1	1																																																																																			C1orf43	-	-		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	C	NM_015449		154185138	-1	no_errors	ENST00000493814	ensembl	human	known	70_37	rna	SNP	0.000	T
C1orf43	25912	genome.wustl.edu	37	1	154185145	154185145	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154185145C>G	ENST00000368521.5	-	5	539				C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368518.1_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43							integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					ATTCTTTAGTCtttttttttg	0.478																																																	0													21.0	22.0	22.0					1																	154185145		2199	4299	6498	SO:0001627	intron_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.341-45G>C	1.37:g.154185145C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	RNA	SNP	-	NULL	ENST00000368521.5	37	NULL	CCDS41404.1	1																																																																																			C1orf43	-	-		0.478	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	C	NM_015449		154185145	-1	no_errors	ENST00000493814	ensembl	human	known	70_37	rna	SNP	0.000	G
C1orf204	284677	genome.wustl.edu	37	1	159810561	159810561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:159810561G>A	ENST00000368102.1	-	4	647	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	C1orf204_ENST00000491974.1_Intron	NM_001134233.1	NP_001127705.1	Q5VU13	VSIG8_HUMAN	chromosome 1 open reading frame 204	0	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			kidney(1)	1						GCACTCACCTGAGGGAAGTCT	0.567																																																	0													88.0	88.0	88.0					1																	159810561		692	1591	2283	SO:0001587	stop_gained	284677			AK096506	CCDS44253.1	1q23.1	2012-07-30			ENSG00000188004	ENSG00000188004			27647	protein-coding gene	gene with protein product							Standard	NM_001134233		Approved	FLJ39187		Q5VU13	OTTHUMG00000035430	ENST00000368102.1:c.538C>T	1.37:g.159810561G>A	ENSP00000357082:p.Gln180*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VU14	Nonsense_Mutation	SNP	NULL	p.Q180*	ENST00000368102.1	37	c.538	CCDS44253.1	1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371644	0.42003	.	.	ENSG00000188004	ENST00000368102	.	.	.	3.02	0.0369	0.14194	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.4423	0.07468	0.2555:0.216:0.5285:0.0	.	.	.	.	X	180	.	ENSP00000357082:Q180X	Q	-	1	0	C1orf204	158077185	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.160000	0.10041	0.027000	0.15297	-0.264000	0.10439	CAG	C1orf204	-	NULL		0.567	C1orf204-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1orf204	HGNC	protein_coding	OTTHUMT00000085976.1	G	NM_001134233		159810561	-1	no_errors	ENST00000368102	ensembl	human	novel	70_37	nonsense	SNP	0.001	A
C1orf147	574431	genome.wustl.edu	37	1	206665753	206665753	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:206665753C>T	ENST00000367119.1	-	2	791	c.781G>A	c.(781-783)Gag>Aag	p.E261K	IKBKE_ENST00000367120.3_Intron|IKBKE_ENST00000537984.1_Intron			Q96MC9	CA147_HUMAN	chromosome 1 open reading frame 147	261										central_nervous_system(1)	1						CCTTGGCACTCACCCGTCCTC	0.522																																																	0																																										SO:0001583	missense	574431			AK057159		1q32.1	2012-04-19			ENSG00000162888	ENSG00000162888			32061	protein-coding gene	gene with protein product							Standard			Approved	FLJ32597		Q96MC9	OTTHUMG00000036338	ENST00000367119.1:c.781G>A	1.37:g.206665753C>T	ENSP00000356086:p.Glu261Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTS5	Missense_Mutation	SNP	NULL	p.E261K	ENST00000367119.1	37	c.781		1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567945	0.28003	.	.	ENSG00000162888	ENST00000367119	T	0.29142	1.58	2.1	2.1	0.27182	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21793	-1.0235	6	0.87932	D	0	.	7.7807	0.29064	0.0:1.0:0.0:0.0	.	.	.	.	K	261	ENSP00000356086:E261K	ENSP00000356086:E261K	E	-	1	0	C1orf147	204732376	0.000000	0.05858	0.049000	0.19019	0.022000	0.10575	-0.005000	0.12855	1.515000	0.48885	0.484000	0.47621	GAG	C1orf147	-	NULL		0.522	C1orf147-001	KNOWN	basic|appris_principal	protein_coding	C1orf147	HGNC	protein_coding	OTTHUMT00000088457.1	C			206665753	-1	no_errors	ENST00000367119	ensembl	human	known	70_37	missense	SNP	0.050	T
C20orf194	25943	genome.wustl.edu	37	20	3354736	3354736	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:3354736C>G	ENST00000252032.9	-	6	638	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	191										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCAATGCCCTCAAGTGCAAAG	0.388																																																	0													148.0	135.0	139.0					20																	3354736		1883	4115	5998	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.571G>C	20.37:g.3354736C>G	ENSP00000252032:p.Glu191Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.E191Q	ENST00000252032.9	37	c.571	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721178	0.89205	.	.	ENSG00000088854	ENST00000252032	T	0.32272	1.46	5.14	5.14	0.70334	.	0.058045	0.64402	D	0.000002	T	0.57975	0.2090	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.62329	-0.6877	10	0.87932	D	0	.	17.5279	0.87805	0.0:1.0:0.0:0.0	.	191	Q5TEA3	CT194_HUMAN	Q	191	ENSP00000252032:E191Q	ENSP00000252032:E191Q	E	-	1	0	C20orf194	3302736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.241000	0.78201	2.660000	0.90430	0.650000	0.86243	GAG	C20orf194	-	NULL		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	C	NM_001009984		3354736	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	1.000	G
C20orf196	149840	genome.wustl.edu	37	20	5753632	5753632	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:5753632G>A	ENST00000303142.6	+	2	208	c.121G>A	c.(121-123)Gag>Aag	p.E41K	C20orf196_ENST00000378979.4_Missense_Mutation_p.E41K	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	41								p.E41Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGCCAACAGCGAGGCTTTCAG	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											159.0	154.0	156.0					20																	5753632		2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.121G>A	20.37:g.5753632G>A	ENSP00000305875:p.Glu41Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.E41K	ENST00000303142.6	37	c.121	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355050	0.41700	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.96	5.01	0.66863	.	0.719070	0.12803	N	0.437788	T	0.42562	0.1208	L	0.38531	1.155	0.09310	N	1	D	0.56287	0.975	P	0.45474	0.482	T	0.25257	-1.0137	10	0.49607	T	0.09	-2.4911	10.2677	0.43464	0.0918:0.0:0.9082:0.0	.	41	Q8IYI0	CT196_HUMAN	K	41;41;41;41;88;88	ENSP00000368263:E41K;ENSP00000305875:E41K;ENSP00000399331:E41K;ENSP00000410534:E88K	ENSP00000305875:E41K	E	+	1	0	C20orf196	5701632	0.104000	0.21937	0.005000	0.12908	0.856000	0.48823	2.238000	0.43070	1.496000	0.48567	0.650000	0.86243	GAG	C20orf196	-	NULL		0.448	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2	G	NM_152504		5753632	+1	no_errors	ENST00000303142	ensembl	human	known	70_37	missense	SNP	0.017	A
C20orf187	728434	genome.wustl.edu	37	20	11008878	11008878	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:11008878G>C	ENST00000378252.1	+	2	216	c.83G>C	c.(82-84)gGa>gCa	p.G28A	C20orf187_ENST00000537362.1_Missense_Mutation_p.G23A			Q9UGB4	CT187_HUMAN	chromosome 20 open reading frame 187	28																	AATACAGAAGGAGACCTACTC	0.383																																																	0																																										SO:0001583	missense	728434			AL050322		20p12.2	2013-01-15			ENSG00000125899	ENSG00000125899			16180	other	unknown							Standard			Approved	dJ727I10.1		Q9UGB4	OTTHUMG00000031881	ENST00000378252.1:c.83G>C	20.37:g.11008878G>C	ENSP00000367499:p.Gly28Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G28A	ENST00000378252.1	37	c.83		20	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704955	0.30232	.	.	ENSG00000125899	ENST00000378252;ENST00000537362	.	.	.	3.8	0.302	0.15786	.	.	.	.	.	T	0.36166	0.0957	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45977	-0.9224	4	0.87932	D	0	.	2.1612	0.03825	0.3581:0.0:0.3979:0.244	.	.	.	.	A	28;23	.	ENSP00000367499:G28A	G	+	2	0	C20orf187	10956878	0.003000	0.15002	0.000000	0.03702	0.249000	0.25844	0.376000	0.20535	0.076000	0.16826	0.655000	0.94253	GGA	C20orf187	-	NULL		0.383	C20orf187-001	KNOWN	basic|appris_principal	protein_coding	C20orf187	HGNC	protein_coding	OTTHUMT00000078012.1	G			11008878	+1	no_errors	ENST00000378252	ensembl	human	known	70_37	missense	SNP	0.001	C
C2CD2	25966	genome.wustl.edu	37	21	43334762	43334762	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:43334762C>T	ENST00000380486.3	-	6	1030	c.789G>A	c.(787-789)ctG>ctA	p.L263L	C2CD2_ENST00000329623.7_Silent_p.L108L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	263						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCAGTAGCTTCAGCTCGTGAG	0.542																																																	0													112.0	94.0	100.0					21																	43334762		2203	4300	6503	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.789G>A	21.37:g.43334762C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L263	ENST00000380486.3	37	c.789	CCDS42933.1	21																																																																																			C2CD2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.542	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	C	NM_015500		43334762	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	silent	SNP	0.157	T
C2CD3	26005	genome.wustl.edu	37	11	73745582	73745582	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:73745582C>T	ENST00000334126.7	-	31	6108				C2CD3_ENST00000313663.7_3'UTR|C2CD3_ENST00000542452.1_5'Flank			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3						brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTATCTGCTCATGCTCAGGA	0.398																																																	0													84.0	81.0	82.0					11																	73745582		692	1591	2283	SO:0001627	intron_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5882-259G>A	11.37:g.73745582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	RNA	SNP	-	NULL	ENST00000334126.7	37	NULL		11																																																																																			C2CD3	-	-		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73745582	-1	no_errors	ENST00000540452	ensembl	human	putative	70_37	rna	SNP	1.000	T
C2CD3	26005	genome.wustl.edu	37	11	73872475	73872475	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:73872475G>A	ENST00000334126.7	-	3	678	c.452C>T	c.(451-453)tCa>tTa	p.S151L	C2CD3_ENST00000313663.7_Missense_Mutation_p.S151L|C2CD3_ENST00000539061.1_Missense_Mutation_p.S151L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	151					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGACGTTGATGAAACAATGGT	0.338																																																	0													85.0	83.0	84.0					11																	73872475		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.452C>T	11.37:g.73872475G>A	ENSP00000334379:p.Ser151Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S151L	ENST00000334126.7	37	c.452		11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465853	0.84425	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.15718	2.4;2.44	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.45236	0.1332	M	0.76328	2.33	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.38993	-0.9635	10	0.87932	D	0	-9.4865	18.4103	0.90549	0.0:0.0:1.0:0.0	.	151;151	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	L	151	ENSP00000334379:S151L;ENSP00000323339:S151L	ENSP00000289350:S151L	S	-	2	0	C2CD3	73550123	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.132000	0.89603	2.642000	0.89623	0.650000	0.86243	TCA	C2CD3	-	NULL		0.338	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73872475	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	1.000	A
C2CD3	26005	genome.wustl.edu	37	11	73881827	73881827	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:73881827C>T	ENST00000334126.7	-	1	237	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R4Q|PPME1_ENST00000328257.8_5'Flank|C2CD3_ENST00000539061.1_Missense_Mutation_p.R4Q|PPME1_ENST00000398427.4_5'Flank			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	4					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTGGCCTTTTCGTTGTTTCAT	0.557																																																	0													94.0	80.0	85.0					11																	73881827		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.11G>A	11.37:g.73881827C>T	ENSP00000334379:p.Arg4Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.R4Q	ENST00000334126.7	37	c.11		11	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450820	0.43531	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T;T	0.77098	-1.07;-1.07;-1.07	5.47	4.53	0.55603	.	0.088520	0.43579	D	0.000550	T	0.82235	0.4993	L	0.57536	1.79	0.29899	N	0.824523	D;D	0.76494	0.999;0.998	P;P	0.58780	0.703;0.845	T	0.80355	-0.1417	10	0.66056	D	0.02	-3.0479	11.4595	0.50202	0.1799:0.8201:0.0:0.0	.	4;4	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	Q	4	ENSP00000334379:R4Q;ENSP00000323339:R4Q;ENSP00000445933:R4Q	ENSP00000289350:R4Q	R	-	2	0	C2CD3	73559475	0.946000	0.32159	0.916000	0.36221	0.077000	0.17291	2.089000	0.41672	1.242000	0.43836	0.561000	0.74099	CGA	C2CD3	-	NULL		0.557	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73881827	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.948	T
C2orf44	80304	genome.wustl.edu	37	2	24260744	24260744	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:24260744G>A	ENST00000295148.4	-	2	1678	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	C2orf44_ENST00000406895.3_Missense_Mutation_p.R541C	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	541									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCAAACGAGGAGGCTCC	0.488			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													64.0	66.0	65.0					2																	24260744		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1621C>T	2.37:g.24260744G>A	ENSP00000295148:p.Arg541Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	NULL	p.R541C	ENST00000295148.4	37	c.1621	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462557	0.26248	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.44083	0.93;0.93	5.49	-11.0	0.00169	.	0.936056	0.09138	N	0.843471	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.17137	-1.0379	10	0.45353	T	0.12	0.3765	2.5998	0.04863	0.2384:0.1553:0.4154:0.1909	.	541;541	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	C	541	ENSP00000295148:R541C;ENSP00000385816:R541C	ENSP00000295148:R541C	R	-	1	0	C2orf44	24114248	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.285000	0.08410	-2.998000	0.00277	-1.917000	0.00517	CGT	C2orf44	-	NULL		0.488	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	G	NM_025203		24260744	-1	no_errors	ENST00000295148	ensembl	human	known	70_37	missense	SNP	0.000	A
C2orf74	339804	genome.wustl.edu	37	2	61390202	61390202	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:61390202C>T	ENST00000432605.1	+	3	246	c.246C>T	c.(244-246)gtC>gtT	p.V82V	C2orf74_ENST00000426997.1_Silent_p.V3V|RP11-493E12.1_ENST00000605902.1_lincRNA	NM_001143959.1	NP_001137431.1	A8MZ97	CB074_HUMAN	chromosome 2 open reading frame 74	82						integral component of membrane (GO:0016021)				endometrium(1)	1						TAATGCAAGTCATGAACTTGA	0.453																																																	0													113.0	99.0	104.0					2																	61390202		692	1591	2283	SO:0001819	synonymous_variant	339804					2p15	2012-08-06			ENSG00000237651	ENSG00000237651			34439	protein-coding gene	gene with protein product							Standard	NM_001143959		Approved	LOC339804	uc010ypm.1	A8MZ97		ENST00000432605.1:c.246C>T	2.37:g.61390202C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JP62	Silent	SNP	NULL	p.V82	ENST00000432605.1	37	c.246		2																																																																																			C2orf74	-	NULL		0.453	C2orf74-202	KNOWN	basic|appris_principal	protein_coding	C2orf74	HGNC	protein_coding		C	NM_001143959		61390202	+1	no_errors	ENST00000432605	ensembl	human	known	70_37	silent	SNP	0.000	T
C2orf78	388960	genome.wustl.edu	37	2	74044096	74044096	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:74044096G>C	ENST00000409561.1	+	3	2867	c.2746G>C	c.(2746-2748)Gaa>Caa	p.E916Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	916										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGAAATTGCTGAATACTATGG	0.373																																																	0													28.0	30.0	29.0					2																	74044096		1862	4103	5965	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2746G>C	2.37:g.74044096G>C	ENSP00000387124:p.Glu916Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E916Q	ENST00000409561.1	37	c.2746	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	1.083	-0.666483	0.03428	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.40756	1.02	5.34	-2.54	0.06307	.	1.147640	0.06701	N	0.771511	T	0.08846	0.0219	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35301	-0.9794	10	0.02654	T	1	1.6294	4.6451	0.12568	0.1182:0.2644:0.477:0.1404	.	916	A6NCI8	CB078_HUMAN	Q	916;886	ENSP00000387124:E916Q	ENSP00000340692:E886Q	E	+	1	0	C2orf78	73897604	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.005000	0.13129	-0.127000	0.11661	-1.350000	0.01237	GAA	C2orf78	-	NULL		0.373	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	G	NM_001080474		74044096	+1	no_errors	ENST00000409561	ensembl	human	novel	70_37	missense	SNP	0.000	C
C2orf40	84417	genome.wustl.edu	37	2	106690478	106690478	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:106690478C>T	ENST00000238044.3	+	3	373	c.264C>T	c.(262-264)ctC>ctT	p.L88L	C2orf40_ENST00000409944.1_Silent_p.L52L|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	88					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						AGCAGTTTCTCTACATGGGCT	0.607																																																	0													70.0	73.0	72.0					2																	106690478		2203	4300	6503	SO:0001819	synonymous_variant	84417			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.264C>T	2.37:g.106690478C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVK2	Silent	SNP	NULL	p.L88	ENST00000238044.3	37	c.264	CCDS2072.1	2																																																																																			C2orf40	-	NULL		0.607	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	C	NM_032411		106690478	+1	no_errors	ENST00000238044	ensembl	human	known	70_37	silent	SNP	0.999	T
C3orf20	84077	genome.wustl.edu	37	3	14746084	14746084	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:14746084C>G	ENST00000253697.3	+	7	1571	c.1119C>G	c.(1117-1119)ttC>ttG	p.F373L	C3orf20_ENST00000435614.1_Missense_Mutation_p.F251L|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.F251L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	373						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGAAGGCCTTCAAGTTTCATT	0.502																																																	0													265.0	243.0	251.0					3																	14746084		2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1119C>G	3.37:g.14746084C>G	ENSP00000253697:p.Phe373Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.F373L	ENST00000253697.3	37	c.1119	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	C	3.277	-0.147817	0.06627	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.10960	2.82;2.82;2.82	5.16	3.3	0.37823	.	1.519790	0.03895	N	0.279428	T	0.07638	0.0192	N	0.19112	0.55	0.24245	N	0.995346	B	0.02656	0.0	B	0.04013	0.001	T	0.39418	-0.9615	10	0.07990	T	0.79	-3.502	7.1837	0.25786	0.0:0.7807:0.0:0.2193	.	373	Q8ND61	CC020_HUMAN	L	373;251;251	ENSP00000253697:F373L;ENSP00000402933:F251L;ENSP00000396081:F251L	ENSP00000253697:F373L	F	+	3	2	C3orf20	14721088	0.273000	0.24181	0.555000	0.28281	0.006000	0.05464	0.314000	0.19432	0.510000	0.28216	-0.216000	0.12614	TTC	C3orf20	-	NULL		0.502	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	C	NM_032137		14746084	+1	no_errors	ENST00000253697	ensembl	human	known	70_37	missense	SNP	0.822	G
C4orf19	55286	genome.wustl.edu	37	4	37592364	37592364	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:37592364G>C	ENST00000284437.6	+	3	865	c.687G>C	c.(685-687)ttG>ttC	p.L229F	C4orf19_ENST00000381980.4_Missense_Mutation_p.L229F|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	229										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCATGGTTTGAATACGCCCT	0.453																																																	0													63.0	62.0	63.0					4																	37592364		2203	4300	6503	SO:0001583	missense	55286			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.687G>C	4.37:g.37592364G>C	ENSP00000284437:p.Leu229Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NV03	Missense_Mutation	SNP	NULL	p.L229F	ENST00000284437.6	37	c.687	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279203	0.40294	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.33654	1.4;1.4	4.79	-0.00474	0.14020	.	0.608418	0.13467	N	0.385705	T	0.38054	0.1026	L	0.53249	1.67	0.09310	N	1	P	0.51351	0.944	P	0.51135	0.66	T	0.20472	-1.0274	10	0.52906	T	0.07	-0.9022	5.6392	0.17554	0.3889:0.1317:0.4794:0.0	.	229	Q8IY42	CD019_HUMAN	F	229	ENSP00000371408:L229F;ENSP00000284437:L229F	ENSP00000284437:L229F	L	+	3	2	C4orf19	37268759	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.151000	0.11176	-0.218000	0.12543	TTG	C4orf19	-	NULL		0.453	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	G	NM_018302		37592364	+1	no_errors	ENST00000284437	ensembl	human	known	70_37	missense	SNP	0.000	C
C5orf42	65250	genome.wustl.edu	37	5	37183126	37183126	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:37183126G>C	ENST00000508244.1	-	25	5250	c.5157C>G	c.(5155-5157)ttC>ttG	p.F1719L	C5orf42_ENST00000274258.7_Missense_Mutation_p.F600L|C5orf42_ENST00000425232.2_Missense_Mutation_p.F1719L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1719						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAATAGCTTTGAAAATACATC	0.358																																																	0													87.0	87.0	87.0					5																	37183126		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5157C>G	5.37:g.37183126G>C	ENSP00000421690:p.Phe1719Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.F1719L	ENST00000508244.1	37	c.5157	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806669	0.70682	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.19	5.19	0.71726	.	0.000000	0.45606	D	0.000347	T	0.22551	0.0544	N	0.19112	0.55	0.38252	D	0.941623	P;D	0.56287	0.952;0.975	P;P	0.53146	0.492;0.719	T	0.07139	-1.0788	10	0.66056	D	0.02	.	18.7341	0.91748	0.0:0.0:1.0:0.0	.	1719;600	E9PH94;Q9H799	.;CE042_HUMAN	L	1719;1719;600;767;600	ENSP00000421690:F1719L;ENSP00000389014:F1719L;ENSP00000274258:F600L;ENSP00000424223:F767L	ENSP00000274258:F600L	F	-	3	2	C5orf42	37218883	1.000000	0.71417	0.940000	0.37924	0.566000	0.35808	2.471000	0.45127	2.427000	0.82271	0.655000	0.94253	TTC	C5orf42	-	NULL		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37183126	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	1.000	C
C5orf42	65250	genome.wustl.edu	37	5	37196095	37196095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:37196095G>A	ENST00000508244.1	-	20	3769	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	C5orf42_ENST00000274258.7_Nonsense_Mutation_p.R107*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1226						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358																																																	0													68.0	66.0	67.0					5																	37196095		2203	4300	6503	SO:0001587	stop_gained	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3676C>T	5.37:g.37196095G>A	ENSP00000421690:p.Arg1226*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.R1226*	ENST00000508244.1	37	c.3676	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	58	31.088537	0.99978	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.21	4.31	0.51392	.	0.000000	0.35936	N	0.002890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1679	0.72842	0.0:0.0:0.8578:0.1422	.	.	.	.	X	1226;1226;107;274;107	.	ENSP00000274258:R107X	R	-	1	2	C5orf42	37231852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.489000	0.73641	1.271000	0.44313	0.655000	0.94253	CGA	C5orf42	-	NULL		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37196095	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	nonsense	SNP	1.000	A
C5orf46	389336	genome.wustl.edu	37	5	147281297	147281297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:147281297G>T	ENST00000318315.4	-	2	110	c.110C>A	c.(109-111)tCg>tAg	p.S37*	C5orf46_ENST00000515291.1_Nonsense_Mutation_p.S37*|C5orf46_ENST00000510432.1_5'UTR	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	37						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						GTCTTTGCCCGAgtcgtctgg	0.493																																																	0													232.0	206.0	215.0					5																	147281297		2203	4300	6503	SO:0001587	stop_gained	389336				CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"""skin and saliva secreted protein 1"""						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.110C>A	5.37:g.147281297G>T	ENSP00000315370:p.Ser37*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K038|Q8WU04	Nonsense_Mutation	SNP	NULL	p.S37*	ENST00000318315.4	37	c.110	CCDS34267.1	5	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016024	0.35606	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	.	.	.	4.96	4.09	0.47781	.	0.000000	0.43110	D	0.000611	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5248	9.6599	0.39950	0.0945:0.0:0.9055:0.0	.	.	.	.	X	37	.	ENSP00000315370:S37X	S	-	2	0	C5orf46	147261490	0.569000	0.26643	0.761000	0.31378	0.177000	0.22998	1.943000	0.40253	1.470000	0.48102	-0.119000	0.15052	TCG	C5orf46	-	NULL		0.493	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf46	HGNC	protein_coding	OTTHUMT00000373314.1	G	NM_206966		147281297	-1	no_errors	ENST00000318315	ensembl	human	known	70_37	nonsense	SNP	0.801	T
C6orf136	221545	genome.wustl.edu	37	6	30618839	30618839	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30618839G>C	ENST00000376473.5	+	3	702	c.543G>C	c.(541-543)gaG>gaC	p.E181D	AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000376471.4_Missense_Mutation_p.E47D|C6orf136_ENST00000293604.6_Missense_Mutation_p.E362D|C6orf136_ENST00000528347.2_Missense_Mutation_p.E38D	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	181						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCATCAATGAGATCCTCAACA	0.488																																																	0													121.0	110.0	113.0					6																	30618839		2203	4300	6503	SO:0001583	missense	221545			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.543G>C	6.37:g.30618839G>C	ENSP00000365656:p.Glu181Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	pfam_DUF2358	p.E362D	ENST00000376473.5	37	c.1086	CCDS43443.1	6	.	.	.	.	.	.	.	.	.	.	G	9.075	0.997984	0.19043	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699	.	.	.	5.66	4.79	0.61399	.	0.104471	0.64402	D	0.000004	T	0.09512	0.0234	N	0.16478	0.41	0.29959	N	0.819555	P;B;P	0.43542	0.81;0.016;0.529	B;B;B	0.39068	0.241;0.014;0.289	T	0.05582	-1.0876	9	0.38643	T	0.18	-11.4294	8.4666	0.32960	0.1736:0.0:0.8264:0.0	.	47;362;181	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	D	362;181;47;299;38;3	.	ENSP00000293604:E362D	E	+	3	2	C6orf136	30726818	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.398000	0.34554	1.393000	0.46605	0.561000	0.74099	GAG	C6orf136	-	pfam_DUF2358		0.488	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf136	HGNC	protein_coding	OTTHUMT00000076457.4	G	NM_145029		30618839	+1	no_errors	ENST00000293604	ensembl	human	known	70_37	missense	SNP	1.000	C
C6orf10	10665	genome.wustl.edu	37	6	32261210	32261210	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32261210C>G	ENST00000447241.2	-	23	1412	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q	C6orf10_ENST00000527965.1_Missense_Mutation_p.E398Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E412Q|C6orf10_ENST00000442822.2_Missense_Mutation_p.E405Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E412Q|C6orf10_ENST00000375015.4_Missense_Mutation_p.E413Q	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	414						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCACTCTTCTCTACCTGGGCT	0.473																																																	0													135.0	155.0	148.0					6																	32261210		1508	2708	4216	SO:0001583	missense	10665			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1240G>C	6.37:g.32261210C>G	ENSP00000415517:p.Glu414Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	NULL	p.E414Q	ENST00000447241.2	37	c.1240	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089112	0.36855	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04049	3.72;3.76;3.75;3.76;3.76;3.75	3.38	-3.03	0.05429	.	.	.	.	.	T	0.04815	0.0130	M	0.64404	1.975	0.09310	N	1	D;D	0.67145	0.982;0.996	P;D	0.68192	0.767;0.956	T	0.22138	-1.0225	9	0.32370	T	0.25	-4.5583	5.2153	0.15338	0.0:0.4302:0.1759:0.394	.	414;405	Q5SRN2;C9J9T8	CF010_HUMAN;.	Q	405;414;413;412;398;412;411;411	ENSP00000411164:E405Q;ENSP00000415517:E414Q;ENSP00000364155:E413Q;ENSP00000431199:E412Q;ENSP00000435103:E398Q;ENSP00000364146:E412Q	ENSP00000303292:E411Q	E	-	1	0	C6orf10	32369188	0.000000	0.05858	0.058000	0.19502	0.053000	0.15095	-1.430000	0.02434	-0.451000	0.07097	-0.474000	0.04947	GAG	C6orf10	-	NULL		0.473	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	C	NM_006781		32261210	-1	no_errors	ENST00000447241	ensembl	human	known	70_37	missense	SNP	0.039	G
ERMARD	55780	genome.wustl.edu	37	6	170169741	170169741	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:170169741C>G	ENST00000366773.3	+	12	1198	c.1165C>G	c.(1165-1167)Cag>Gag	p.Q389E	ERMARD_ENST00000418781.3_Missense_Mutation_p.Q389E|ERMARD_ENST00000588451.1_Missense_Mutation_p.Q253E|RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000366772.2_Missense_Mutation_p.Q389E|ERMARD_ENST00000392095.4_Missense_Mutation_p.Q263E	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	389					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AACAACTAATCAGTTGCTTGC	0.378																																																	0													77.0	69.0	71.0					6																	170169741		2203	4300	6503	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1165C>G	6.37:g.170169741C>G	ENSP00000355735:p.Gln389Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.Q389E	ENST00000366773.3	37	c.1165	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	9.514	1.106427	0.20632	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.46819	0.86;0.86	5.34	5.34	0.76211	.	0.104234	0.42964	D	0.000637	T	0.55970	0.1954	M	0.77616	2.38	0.09310	N	1	D;D;D	0.61697	0.975;0.99;0.979	P;D;B	0.72982	0.647;0.979;0.444	T	0.52268	-0.8598	10	0.29301	T	0.29	.	13.094	0.59180	0.0:0.9217:0.0:0.0783	.	389;389;389	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	E	389;389;389;263;37	ENSP00000355735:Q389E;ENSP00000375945:Q263E	ENSP00000355733:Q37E	Q	+	1	0	C6orf70	169911666	0.905000	0.30787	0.092000	0.20876	0.014000	0.08584	3.244000	0.51399	2.524000	0.85096	0.644000	0.83932	CAG	C6orf70	-	NULL		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	C	NM_018341		170169741	+1	no_errors	ENST00000366773	ensembl	human	known	70_37	missense	SNP	0.228	G
C7orf72	100130988	genome.wustl.edu	37	7	50198672	50198672	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:50198672C>T	ENST00000297001.6	+	9	1274	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L		NM_001161834.2	NP_001155306	A4D263	CG072_HUMAN	chromosome 7 open reading frame 72	408										NS(1)|breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|prostate(2)	9						CAGTTGACCTCTTCCGTCACC	0.473																																																	0													134.0	110.0	117.0					7																	50198672		692	1591	2283	SO:0001819	synonymous_variant	100130988				CCDS47585.1	7p12.2	2009-10-15			ENSG00000164500	ENSG00000164500			22564	protein-coding gene	gene with protein product							Standard	NM_001161834		Approved		uc011kcj.2	A4D263	OTTHUMG00000155883	ENST00000297001.6:c.1224C>T	7.37:g.50198672C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDX9	Silent	SNP	NULL	p.L408	ENST00000297001.6	37	c.1224	CCDS47585.1	7																																																																																			C7orf72	-	NULL		0.473	C7orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf72	HGNC	protein_coding	OTTHUMT00000342124.1	C	NM_001161834		50198672	+1	no_errors	ENST00000297001	ensembl	human	known	70_37	silent	SNP	0.330	T
C7orf72	100130988	genome.wustl.edu	37	7	50198675	50198675	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:50198675C>T	ENST00000297001.6	+	9	1277	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F		NM_001161834.2	NP_001155306	A4D263	CG072_HUMAN	chromosome 7 open reading frame 72	409										NS(1)|breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|prostate(2)	9						TTGACCTCTTCCGTCACCAGG	0.478																																																	0													130.0	107.0	114.0					7																	50198675		692	1591	2283	SO:0001819	synonymous_variant	100130988				CCDS47585.1	7p12.2	2009-10-15			ENSG00000164500	ENSG00000164500			22564	protein-coding gene	gene with protein product							Standard	NM_001161834		Approved		uc011kcj.2	A4D263	OTTHUMG00000155883	ENST00000297001.6:c.1227C>T	7.37:g.50198675C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDX9	Silent	SNP	NULL	p.F409	ENST00000297001.6	37	c.1227	CCDS47585.1	7																																																																																			C7orf72	-	NULL		0.478	C7orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf72	HGNC	protein_coding	OTTHUMT00000342124.1	C	NM_001161834		50198675	+1	no_errors	ENST00000297001	ensembl	human	known	70_37	silent	SNP	0.988	T
MROH6	642475	genome.wustl.edu	37	8	144650719	144650719	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:144650719G>A	ENST00000398882.3	-	10	1901				MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000524906.1_Intron|MROH6_ENST00000534459.1_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		GGGGGCTGCTGACCTCAGCAG	0.672																																																	0													4.0	5.0	5.0					8																	144650719		1893	3913	5806	SO:0001627	intron_variant	642475			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1644+2C>T	8.37:g.144650719G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWB1	RNA	SNP	-	NULL	ENST00000398882.3	37	NULL	CCDS47928.1	8																																																																																			C8orf73	-	-		0.672	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf73	HGNC	protein_coding	OTTHUMT00000382330.3	G	NM_001100878		144650719	-1	no_errors	ENST00000533582	ensembl	human	putative	70_37	rna	SNP	0.975	A
C9orf3	84909	genome.wustl.edu	37	9	97694040	97694040	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:97694040C>G	ENST00000375315.2	+	6	1661				C9orf3_ENST00000277198.2_3'UTR|C9orf3_ENST00000297979.5_Intron|C9orf3_ENST00000473778.1_3'UTR|RP11-54O15.3_ENST00000439872.1_RNA|C9orf3_ENST00000395357.2_3'UTR	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3						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)		CTCTTGAGATCTTTGCCACAC	0.428																																																	0																																										SO:0001627	intron_variant	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.1661+3227C>G	9.37:g.97694040C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	RNA	SNP	-	NULL	ENST00000375315.2	37	NULL	CCDS55328.1	9																																																																																			C9orf3	-	-		0.428	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		C	NM_032823		97694040	+1	no_errors	ENST00000473778	ensembl	human	known	70_37	rna	SNP	0.000	G
CCDC180	100499483	genome.wustl.edu	37	9	100137857	100137857	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:100137857G>A	ENST00000357054.1	+	48	5730	c.4795G>A	c.(4795-4797)Gat>Aat	p.D1599N	CCDC180_ENST00000375202.2_Missense_Mutation_p.D1654N|CCDC180_ENST00000529487.1_Missense_Mutation_p.D1654N|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1599						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGAAGCCCGAGATGCTGTGTA	0.607																																																	0													88.0	76.0	80.0					9																	100137857		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4795G>A	9.37:g.100137857G>A	ENSP00000349562:p.Asp1599Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.D1654N	ENST00000357054.1	37	c.4960		9	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489470	0.64074	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.23348	1.99;1.91;1.91	5.48	4.59	0.56863	.	0.205351	0.43416	D	0.000563	T	0.48466	0.1501	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.97110	0.933;1.0	T	0.48258	-0.9051	10	0.51188	T	0.08	-13.9626	10.6776	0.45796	0.0886:0.0:0.9114:0.0	.	1793;1599	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	N	1599;1654;1654	ENSP00000349562:D1599N;ENSP00000364348:D1654N;ENSP00000434727:D1654N	ENSP00000349562:D1599N	D	+	1	0	C9orf174	99177678	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	2.436000	0.44819	1.458000	0.47871	0.655000	0.94253	GAT	C9orf174	-	NULL		0.607	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100137857	+1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	1.000	A
CABP1	9478	genome.wustl.edu	37	12	121093965	121093965	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:121093965G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000351200.2_Intron|CABP1_ENST00000453000.1_Missense_Mutation_p.E118K|CABP1_ENST00000288616.3_Missense_Mutation_p.E39K	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCTGACGCCGAGCTCCCGGG	0.617																																																	0													30.0	32.0	32.0					12																	121093965		2203	4300	6503	SO:0001627	intron_variant	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3716G>A	12.37:g.121093965G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E39K	ENST00000316803.3	37	c.115	CCDS31913.1	12	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929962	0.34096	.	.	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.72051	-0.53;-0.62	5.82	5.82	0.92795	.	.	.	.	.	T	0.58750	0.2144	N	0.14661	0.345	0.26888	N	0.967396	B;B	0.23540	0.07;0.087	B;B	0.16722	0.006;0.016	T	0.54569	-0.8274	9	0.52906	T	0.07	.	18.2696	0.90064	0.0:0.0:1.0:0.0	.	118;39	C9J8G2;Q9NZU7-1	.;.	K	39;118	ENSP00000288616:E39K;ENSP00000398959:E118K	ENSP00000288616:E39K	E	+	1	0	CABP1	119578348	1.000000	0.71417	0.965000	0.40720	0.339000	0.28857	4.046000	0.57376	2.765000	0.95021	0.591000	0.81541	GAG	CABP1	-	NULL		0.617	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	G	NM_001033677		121093965	+1	no_errors	ENST00000288616	ensembl	human	known	70_37	missense	SNP	0.997	A
CACHD1	57685	genome.wustl.edu	37	1	65099937	65099937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:65099937C>T	ENST00000371073.2	+	7	1000	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Q283*|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	334	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACAAAGTTCCAAGCAAGTGA	0.413																																																	0													72.0	60.0	64.0					1																	65099937		2203	4300	6503	SO:0001587	stop_gained	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1000C>T	1.37:g.65099937C>T	ENSP00000360113:p.Gln334*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.Q334*	ENST00000371073.2	37	c.1000		1	.	.	.	.	.	.	.	.	.	.	C	38	7.102014	0.98063	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	6.06	6.06	0.98353	.	0.373616	0.34223	N	0.004160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.5501	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	334;283	.	ENSP00000290039:Q283X	Q	+	1	0	CACHD1	64872525	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	6.223000	0.72257	2.882000	0.98803	0.655000	0.94253	CAA	CACHD1	-	pfscan_VWF_A		0.413	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65099937	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CACHD1	57685	genome.wustl.edu	37	1	65157442	65157442	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:65157442G>A	ENST00000371073.2	+	0	4023				CACHD1_ENST00000290039.5_3'UTR|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1						calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGAAGATGTGAGGCTGGTTC	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.*198G>A	1.37:g.65157442G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	RNA	SNP	-	NULL	ENST00000371073.2	37	NULL		1																																																																																			CACHD1	-	-		0.443	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		G	NM_020925		65157442	+1	no_errors	ENST00000470527	ensembl	human	known	70_37	rna	SNP	0.000	A
CACHD1	57685	genome.wustl.edu	37	1	65157586	65157586	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:65157586G>C	ENST00000371073.2	+	0	4167				CACHD1_ENST00000290039.5_3'UTR|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1						calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAAAGAGCCAGAAGCATTCAG	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.*342G>C	1.37:g.65157586G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	RNA	SNP	-	NULL	ENST00000371073.2	37	NULL		1																																																																																			CACHD1	-	-		0.473	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		G	NM_020925		65157586	+1	no_errors	ENST00000470527	ensembl	human	known	70_37	rna	SNP	0.934	C
CACNA1F	778	genome.wustl.edu	37	X	49063285	49063285	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:49063285G>A	ENST00000376265.2	-	45	5357	c.5296C>T	c.(5296-5298)Ccc>Tcc	p.P1766S	CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1701S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1755S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1766					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCACGGGGGAGTCCCTGCC	0.642																																																	0													56.0	54.0	55.0					X																	49063285		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5296C>T	X.37:g.49063285G>A	ENSP00000365441:p.Pro1766Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.P1766S	ENST00000376265.2	37	c.5296	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	6.439	0.449138	0.12223	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	5.6	0.574	0.17368	.	1.361170	0.04625	N	0.402647	D	0.92351	0.7573	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.12156	0.003;0.007	T	0.79478	-0.1787	10	0.08179	T	0.78	.	4.3257	0.11039	0.0756:0.1259:0.4024:0.3961	.	1755;1766	F5CIQ9;O60840	.;CAC1F_HUMAN	S	1701;1755;1766	ENSP00000365427:P1701S;ENSP00000321618:P1755S;ENSP00000365441:P1766S	ENSP00000321618:P1755S	P	-	1	0	CACNA1F	48950229	0.708000	0.27876	0.000000	0.03702	0.031000	0.12232	1.202000	0.32271	-0.343000	0.08351	-0.351000	0.07748	CCC	CACNA1F	-	NULL		0.642	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49063285	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	0.000	A
CADPS2	93664	genome.wustl.edu	37	7	122114572	122114572	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:122114572C>T	ENST00000449022.2	-	13	1881		c.e13-1		CADPS2_ENST00000334010.7_Missense_Mutation_p.D622N|CADPS2_ENST00000412584.2_Splice_Site|CADPS2_ENST00000313070.7_Splice_Site	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CGATCTGCATCTGTAAATTCA	0.388																																																	0													64.0	63.0	63.0					7																	122114572		1874	4105	5979	SO:0001630	splice_region_variant	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1862-1G>A	7.37:g.122114572C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Splice_Site	SNP	-	e13-1	ENST00000449022.2	37	c.1862-1	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.920683|3.920683	0.73213|0.73213	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000545465;ENST00000412584;ENST00000449022;ENST00000397721|ENST00000334010;ENST00000420900	.|T	.|0.47177	.|0.85	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65186	.|0.2667	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60627	.|-0.7226	.|5	.|.	.|.	.|.	.|.	20.1169|20.1169	0.97940|0.97940	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|622	.|ENSP00000333940:D622N	.|.	.|D	-|-	.|1	.|0	CADPS2|CADPS2	121901808|121901808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	7.587000|7.587000	0.82613|0.82613	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	.|GAT	CADPS2	-	-		0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	C	NM_017954	Intron	122114572	-1	no_errors	ENST00000449022	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CALML6	163688	genome.wustl.edu	37	1	1847898	1847898	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:1847898G>A	ENST00000307786.3	+	3	551	c.97G>A	c.(97-99)Gag>Aag	p.E33K	CALML6_ENST00000462293.1_Intron	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	33	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTGTCGGCTGAGCAGATCAA	0.637																																																	0													60.0	57.0	58.0					1																	1847898		2169	4274	6443	SO:0001583	missense	163688			AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.97G>A	1.37:g.1847898G>A	ENSP00000304643:p.Glu33Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2M3|Q6Q2C4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E33K	ENST00000307786.3	37	c.97	CCDS30566.1	1	.	.	.	.	.	.	.	.	.	.	.	9.429	1.084928	0.20390	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.42513	0.97;0.97	2.32	2.32	0.28847	EF-hand-like domain (1);	.	.	.	.	T	0.36082	0.0954	L	0.52266	1.64	0.18873	N	0.999989	B	0.15141	0.012	B	0.11329	0.006	T	0.33803	-0.9854	9	0.72032	D	0.01	.	8.2248	0.31562	0.0:0.0:1.0:0.0	.	33	Q8TD86	CALL6_HUMAN	K	33;16	ENSP00000304643:E33K;ENSP00000367867:E16K	ENSP00000304643:E33K	E	+	1	0	CALML6	1837758	0.973000	0.33851	0.118000	0.21660	0.362000	0.29581	2.422000	0.44696	1.612000	0.50221	0.491000	0.48974	GAG	CALML6	-	pfscan_EF_HAND_2		0.637	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	CALML6	HGNC	protein_coding	OTTHUMT00000276929.1	G	NM_138705		1847898	+1	no_errors	ENST00000307786	ensembl	human	known	70_37	missense	SNP	0.448	A
CALR	811	genome.wustl.edu	37	19	13050346	13050346	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:13050346G>C	ENST00000316448.5	+	3	371	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	100	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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 peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGTGAAACATGAGCAGAACAT	0.512																																																	0													166.0	161.0	162.0					19																	13050346		2203	4300	6503	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.298G>C	19.37:g.13050346G>C	ENSP00000320866:p.Glu100Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.E100Q	ENST00000316448.5	37	c.298	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.928845	0.97116	.	.	ENSG00000179218	ENST00000316448	T	0.46819	0.86	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	L	0.41356	1.27	0.80722	D	1	P	0.48589	0.912	B	0.43916	0.436	T	0.39683	-0.9602	10	0.41790	T	0.15	-40.817	18.0498	0.89344	0.0:0.0:1.0:0.0	.	100	P27797	CALR_HUMAN	Q	100	ENSP00000320866:E100Q	ENSP00000320866:E100Q	E	+	1	0	CALR	12911346	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.808000	0.99193	2.546000	0.85860	0.561000	0.74099	GAG	CALR	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex		0.512	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	G	NM_004343		13050346	+1	no_errors	ENST00000316448	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMK1	8536	genome.wustl.edu	37	3	9803370	9803370	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9803370C>G	ENST00000256460.3	-	6	678	c.501G>C	c.(499-501)aaG>aaC	p.K167N	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGTCCTCCATCTTGGAGAGGC	0.607																																																	0													69.0	70.0	70.0					3																	9803370		2203	4300	6503	SO:0001583	missense	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.501G>C	3.37:g.9803370C>G	ENSP00000256460:p.Lys167Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KPF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K167N	ENST00000256460.3	37	c.501	CCDS2582.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016639|4.016639	0.75161|0.75161	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000421120|ENST00000256460	.|T	.|0.46063	.|0.88	4.58|4.58	3.71|3.71	0.42584|0.42584	.|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|T	0.59918|0.59918	0.2229|0.2229	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.87932	.|D	.|0	-19.9487|-19.9487	9.3321|9.3321	0.38027|0.38027	0.0:0.8351:0.0:0.1649|0.0:0.8351:0.0:0.1649	.|.	.|167	.|Q14012	.|KCC1A_HUMAN	H|N	14|167	.|ENSP00000256460:K167N	.|ENSP00000256460:K167N	D|K	-|-	1|3	0|2	CAMK1|CAMK1	9778370|9778370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.703000|1.703000	0.37846|0.37846	1.059000|1.059000	0.40554|0.40554	0.655000|0.655000	0.94253|0.94253	GAT|AAG	CAMK1	-	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		0.607	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1	C	NM_003656		9803370	-1	no_errors	ENST00000256460	ensembl	human	known	70_37	missense	SNP	1.000	G
CAMK2A	815	genome.wustl.edu	37	5	149627368	149627368	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149627368G>C	ENST00000348628.6	-	12	1575	c.910C>G	c.(910-912)Ctc>Gtc	p.L304V	CAMK2A_ENST00000398376.3_Missense_Mutation_p.L304V|CAMK2A_ENST00000351010.6_5'Flank	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	304					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGTGGTGAGAATGGCTCCC	0.632																																																	0													60.0	70.0	67.0					5																	149627368		2071	4216	6287	SO:0001583	missense	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.910C>G	5.37:g.149627368G>C	ENSP00000261793:p.Leu304Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L304V	ENST00000348628.6	37	c.910	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198443	0.79015	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.68765	-0.35;-0.35	5.59	5.59	0.84812	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000009	T	0.75817	0.3901	M	0.85099	2.735	0.80722	D	1	P;B;P	0.43607	0.812;0.34;0.714	B;B;B	0.43575	0.424;0.216;0.243	T	0.79567	-0.1750	10	0.56958	D	0.05	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	304;304;304	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	V	304	ENSP00000261793:L304V;ENSP00000381412:L304V	ENSP00000261793:L304V	L	-	1	0	CAMK2A	149607561	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.798000	0.85924	2.795000	0.96236	0.655000	0.94253	CTC	CAMK2A	-	superfamily_Kinase-like_dom		0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	G	NM_015981		149627368	-1	no_errors	ENST00000398376	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMK2B	816	genome.wustl.edu	37	7	44268519	44268519	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44268519G>A	ENST00000395749.2	-	19	1420	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	448					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CAGAGATCCTGGGGGCTGGGG	0.657																																																	0													19.0	21.0	20.0					7																	44268519		2182	4274	6456	SO:0001819	synonymous_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1344C>T	7.37:g.44268519G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P448	ENST00000395749.2	37	c.1344	CCDS5483.1	7																																																																																			CAMK2B	-	superfamily_Kinase-like_dom		0.657	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44268519	-1	no_errors	ENST00000395749	ensembl	human	known	70_37	silent	SNP	1.000	A
CAMSAP1	157922	genome.wustl.edu	37	9	138754361	138754361	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:138754361G>C	ENST00000389532.4	-	5	824	c.760C>G	c.(760-762)Ctc>Gtc	p.L254V	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L265V|CAMSAP1_ENST00000312405.6_Intron	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	254	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ACAGCTAAGAGAGCAGCACCA	0.483																																																	0													111.0	90.0	96.0					9																	138754361		692	1591	2283	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.760C>G	9.37:g.138754361G>C	ENSP00000374183:p.Leu254Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.L265V	ENST00000389532.4	37	c.793	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335448	0.60853	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	D;T	0.97665	-4.48;1.53	5.0	5.0	0.66597	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (2);	0.000000	0.64402	U	0.000004	D	0.97961	0.9329	M	0.70275	2.135	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98340	1.0538	10	0.87932	D	0	-19.335	13.0347	0.58862	0.0785:0.0:0.9215:0.0	.	254;265	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	254;265	ENSP00000374183:L254V;ENSP00000386420:L265V	ENSP00000374183:L254V	L	-	1	0	CAMSAP1	137894182	1.000000	0.71417	0.606000	0.28943	0.922000	0.55478	4.591000	0.61019	2.482000	0.83794	0.563000	0.77884	CTC	CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain		0.483	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138754361	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.975	C
CAMSAP3	57662	genome.wustl.edu	37	19	7682532	7682532	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:7682532G>A	ENST00000160298.4	+	16	3530	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	CAMSAP3_ENST00000446248.2_Silent_p.K1170K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1143	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.K1143K(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AACCGCAGAAGAATCGCATTC	0.597																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											60.0	62.0	61.0					19																	7682532		2051	4208	6259	SO:0001819	synonymous_variant	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3429G>A	19.37:g.7682532G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDF1	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.K1170	ENST00000160298.4	37	c.3510	CCDS42489.1	19																																																																																			CAMSAP3	-	pfam_CKK_domain,superfamily_PRC_barrell-like		0.597	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7682532	+1	no_errors	ENST00000446248	ensembl	human	known	70_37	silent	SNP	1.000	A
CAPRIN1	4076	genome.wustl.edu	37	11	34097834	34097834	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:34097834G>C	ENST00000341394.4	+	5	607	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E140Q|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E140Q|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E140Q|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E59Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	140					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TATGAGAGAAGAAGCTGAACA	0.353																																																	0													92.0	92.0	92.0					11																	34097834		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.418G>C	11.37:g.34097834G>C	ENSP00000340329:p.Glu140Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.E140Q	ENST00000341394.4	37	c.418	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.227917	0.95173	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06534	-1.0821	10	0.35671	T	0.21	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	140;140	Q14444;Q14444-2	CAPR1_HUMAN;.	Q	140;140;140;140;140;59	ENSP00000340329:E140Q;ENSP00000374296:E140Q;ENSP00000431373:E140Q;ENSP00000434150:E140Q;ENSP00000434204:E140Q;ENSP00000431581:E59Q	ENSP00000340329:E140Q	E	+	1	0	CAPRIN1	34054410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.393000	0.79851	2.775000	0.95449	0.655000	0.94253	GAA	CAPRIN1	-	NULL		0.353	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	G	NM_005898		34097834	+1	no_errors	ENST00000341394	ensembl	human	known	70_37	missense	SNP	1.000	C
CAPRIN1	4076	genome.wustl.edu	37	11	34119297	34119297	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:34119297G>A	ENST00000341394.4	+	18	2243	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.G685E|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.G685E|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.G685E|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.G604E	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	685					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGACCACGGGGAGCCCCACGA	0.443																																																	0													98.0	100.0	99.0					11																	34119297		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.2054G>A	11.37:g.34119297G>A	ENSP00000340329:p.Gly685Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.G685E	ENST00000341394.4	37	c.2054	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119225	0.56505	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.21191	2.15;2.02;2.15;2.02;2.16	5.36	4.43	0.53597	.	0.268449	0.30979	N	0.008487	T	0.28532	0.0706	L	0.29908	0.895	0.51233	D	0.999917	D;D	0.67145	0.961;0.996	P;P	0.62298	0.617;0.9	T	0.01702	-1.1292	10	0.37606	T	0.19	.	10.9431	0.47285	0.0:0.141:0.7125:0.1465	.	685;685	Q14444;Q14444-2	CAPR1_HUMAN;.	E	685;685;685;685;604	ENSP00000340329:G685E;ENSP00000374296:G685E;ENSP00000434150:G685E;ENSP00000434204:G685E;ENSP00000431581:G604E	ENSP00000340329:G685E	G	+	2	0	CAPRIN1	34075873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	1.206000	0.43276	0.563000	0.77884	GGA	CAPRIN1	-	NULL		0.443	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	G	NM_005898		34119297	+1	no_errors	ENST00000341394	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN1	823	genome.wustl.edu	37	11	64950299	64950299	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64950299G>C	ENST00000527323.1	+	1	367	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	CAPN1_ENST00000533820.1_Missense_Mutation_p.E43Q|CAPN1_ENST00000524773.1_Missense_Mutation_p.E43Q|AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000279247.6_Missense_Mutation_p.E43Q|CAPN1_ENST00000533129.1_Missense_Mutation_p.E43Q|CAPN1_ENST00000527469.1_3'UTR			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	43					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCAGGATTATGAGCAGCTGCG	0.637																																																	0													40.0	48.0	45.0					11																	64950299		2102	4234	6336	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.127G>C	11.37:g.64950299G>C	ENSP00000431984:p.Glu43Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E43Q	ENST00000527323.1	37	c.127	CCDS44644.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.271045|4.271045	0.80469|0.80469	.|.	.|.	ENSG00000014216|ENSG00000014216	ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000532285;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323|ENST00000259755	T;T;T;T;T;T;T;T;D;T;T;T;T;T|.	0.97665|.	0.81;0.81;2.29;0.81;0.81;2.29;2.29;2.29;-4.48;0.81;0.81;0.81;0.81;2.29|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Peptidase C2, calpain, catalytic domain (1);|.	0.180408|.	0.47852|.	D|.	0.000209|.	T|T	0.68412|0.68412	0.2998|0.2998	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.16722|.	0.016|.	T|T	0.64317|0.64317	-0.6436|-0.6436	10|6	0.54805|0.30854	T|T	0.06|0.27	.|.	16.7012|16.7012	0.85349|0.85349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	43|.	P07384|.	CAN1_HUMAN|.	Q|I	43|12	ENSP00000435847:E43Q;ENSP00000432512:E43Q;ENSP00000435272:E43Q;ENSP00000433823:E43Q;ENSP00000431528:E43Q;ENSP00000431686:E43Q;ENSP00000434176:E43Q;ENSP00000279247:E43Q;ENSP00000436693:E43Q;ENSP00000431793:E43Q;ENSP00000435092:E43Q;ENSP00000431172:E43Q;ENSP00000435198:E43Q;ENSP00000431984:E43Q|.	ENSP00000279247:E43Q|ENSP00000259755:M12I	E|M	+|+	1|3	0|0	CAPN1|CAPN1	64706875|64706875	1.000000|1.000000	0.71417|0.71417	0.738000|0.738000	0.30950|0.30950	0.959000|0.959000	0.62525|0.62525	5.666000|5.666000	0.68059|0.68059	2.548000|2.548000	0.85928|0.85928	0.655000|0.655000	0.94253|0.94253	GAG|ATG	CAPN1	-	smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64950299	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	0.998	C
RANBP3	8498	genome.wustl.edu	37	19	5914203	5914203	+	IGR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5914203C>G	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Nonsense_Mutation_p.S40*|CAPS_ENST00000222125.5_5'Flank|AC104532.2_ENST00000588891.1_Intron|CAPS_ENST00000452990.2_5'Flank	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACAGTGCATTCATGCAGCTGG	0.642																																																	0																																										SO:0001628	intergenic_variant	828			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914203C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Nonsense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S40*	ENST00000340578.6	37	c.119	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	2.345	-0.350313	0.05173	.	.	ENSG00000105519	ENST00000394521	.	.	.	1.78	-0.73	0.11154	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.4904	0.11810	0.0:0.4246:0.0:0.5754	.	.	.	.	X	87	.	ENSP00000378029:S87X	S	+	2	0	CAPS	5865203	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	-0.229000	0.09098	-0.273000	0.09246	-0.379000	0.06801	TCA	CAPS	-	NULL		0.642	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	HGNC	protein_coding	OTTHUMT00000452304.1	C	NM_007322		5914203	+1	no_errors	ENST00000588776	ensembl	human	putative	70_37	nonsense	SNP	0.021	G
CARD10	29775	genome.wustl.edu	37	22	37898696	37898696	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:37898696G>A	ENST00000403299.1	-	12	1916	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	CARD10_ENST00000251973.5_Missense_Mutation_p.S567F|CARD10_ENST00000406271.3_Missense_Mutation_p.S281F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	567	Poly-Ser.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TGAGGACGAAGAGAGGCCAGG	0.592																																																	0													67.0	52.0	57.0					22																	37898696		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1700C>T	22.37:g.37898696G>A	ENSP00000384570:p.Ser567Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.S567F	ENST00000403299.1	37	c.1700	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499956	0.44455	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.91	4.91	0.64330	.	1.181860	0.05950	N	0.638676	T	0.60625	0.2283	L	0.44542	1.39	0.37418	D	0.913516	B;D	0.61080	0.006;0.989	B;P	0.58172	0.005;0.834	T	0.52518	-0.8565	10	0.59425	D	0.04	-11.7261	13.9912	0.64367	0.0:0.0:1.0:0.0	.	567;281	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	567;281;567;208;39	ENSP00000384570:S567F;ENSP00000385799:S281F;ENSP00000251973:S567F;ENSP00000416239:S208F;ENSP00000393411:S39F	ENSP00000251973:S567F	S	-	2	0	CARD10	36228642	1.000000	0.71417	0.982000	0.44146	0.640000	0.38277	4.390000	0.59646	2.447000	0.82792	0.655000	0.94253	TCT	CARD10	-	NULL		0.592	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	G	NM_014550		37898696	-1	no_errors	ENST00000251973	ensembl	human	known	70_37	missense	SNP	0.996	A
CARD6	84674	genome.wustl.edu	37	5	40843632	40843632	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:40843632C>T	ENST00000254691.5	+	2	861	c.662C>T	c.(661-663)cCt>cTt	p.P221L	CARD6_ENST00000381677.3_Missense_Mutation_p.P221L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	221	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTGACACCCCTGAAGATGCA	0.418																																																	0													64.0	68.0	67.0					5																	40843632		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.662C>T	5.37:g.40843632C>T	ENSP00000254691:p.Pro221Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.P221L	ENST00000254691.5	37	c.662	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	C	9.357	1.066956	0.20067	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.31510	2.72;1.49	4.93	-0.873	0.10635	.	1.623260	0.03261	N	0.183357	T	0.19604	0.0471	L	0.27053	0.805	0.19300	N	0.999976	B	0.06786	0.001	B	0.04013	0.001	T	0.12344	-1.0551	10	0.20046	T	0.44	2.7814	4.1769	0.10356	0.1579:0.4489:0.0:0.3931	.	221	Q9BX69	CARD6_HUMAN	L	221	ENSP00000254691:P221L;ENSP00000371093:P221L	ENSP00000254691:P221L	P	+	2	0	CARD6	40879389	0.051000	0.20477	0.015000	0.15790	0.009000	0.06853	0.150000	0.16263	-0.154000	0.11118	-0.169000	0.13324	CCT	CARD6	-	NULL		0.418	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	C			40843632	+1	no_errors	ENST00000254691	ensembl	human	known	70_37	missense	SNP	0.016	T
CASK	8573	genome.wustl.edu	37	X	41401971	41401971	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:41401971C>G	ENST00000378163.1	-	22	2602	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	CASK_ENST00000378166.4_Missense_Mutation_p.D710H|CASK_ENST00000361962.4_Missense_Mutation_p.D698H|CASK_ENST00000421587.2_Missense_Mutation_p.D681H|CASK_ENST00000442742.2_Missense_Mutation_p.D687H|CASK_ENST00000318588.9_Missense_Mutation_p.D710H|CASK_ENST00000378158.1_Missense_Mutation_p.D698H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	710			D -> G (in MICPCH). {ECO:0000269|PubMed:19377476}.		calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AAATATTTATCTTTGTACTGC	0.423																																					NSCLC(42;104 1086 3090 27189 35040)												0													194.0	143.0	160.0					X																	41401971		2203	4300	6503	SO:0001583	missense	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2128G>C	X.37:g.41401971C>G	ENSP00000367405:p.Asp710His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.D710H	ENST00000378163.1	37	c.2128		X	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851803	0.91355	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.64402	D	0.000017	D	0.91768	0.7396	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;0.988;0.999;0.999	D;D;P;D;D	0.75484	0.984;0.986;0.842;0.945;0.957	D	0.92303	0.5851	10	0.72032	D	0.01	.	19.1596	0.93526	0.0:1.0:0.0:0.0	.	681;687;710;710;302	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	H	681;710;698;710;302;165;698;710;687	ENSP00000400526:D681H;ENSP00000322727:D710H;ENSP00000354641:D698H;ENSP00000367405:D710H;ENSP00000367421:D302H;ENSP00000367410:D165H;ENSP00000367400:D698H;ENSP00000367408:D710H;ENSP00000398007:D687H	ENSP00000322727:D710H	D	-	1	0	CASK	41286915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.561000	0.86390	0.523000	0.50628	GAT	CASK	-	superfamily_SH3_domain		0.423	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688		41401971	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	missense	SNP	1.000	G
CASP1	834	genome.wustl.edu	37	11	104899968	104899968	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:104899968C>G	ENST00000533400.1	-	7	924	c.889G>C	c.(889-891)Gat>Cat	p.D297H	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.D276H|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.D297H|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.D258H|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000526568.1_Missense_Mutation_p.D204H|CASP1_ENST00000525825.1_Missense_Mutation_p.D276H|CASP1_ENST00000527979.1_Missense_Mutation_p.D260H|CASP1_ENST00000598974.1_Missense_Mutation_p.D297H|CASP1_ENST00000593315.1_Missense_Mutation_p.D276H|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	297					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CCTACTGAATCTTTAAACCAC	0.403																																					NSCLC(41;1246 1743 4934)												0													68.0	62.0	64.0					11																	104899968		2202	4299	6501	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.889G>C	11.37:g.104899968C>G	ENSP00000433138:p.Asp297His	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.D297H	ENST00000533400.1	37	c.889	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	13.79	2.341031	0.41498	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.48	3.56	0.40772	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.89163	3.01	0.09310	N	0.999999	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	0.91635	0.998;0.993;0.996;0.999;0.996;0.998	T	0.39921	-0.9590	10	0.87932	D	0	.	8.3424	0.32252	0.0:0.8926:0.0:0.1074	.	258;297;276;297;260;204	B4DVD8;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	H	146;204;260;297;297;276;276;258	ENSP00000435536:D146H;ENSP00000434250:D204H;ENSP00000432340:D260H;ENSP00000433138:D297H;ENSP00000410076:D297H;ENSP00000376844:D276H;ENSP00000434779:D276H;ENSP00000434259:D258H	ENSP00000376844:D276H	D	-	1	0	CASP1	104405178	0.969000	0.33509	0.017000	0.16124	0.019000	0.09904	2.252000	0.43196	1.241000	0.43820	0.557000	0.71058	GAT	CASP1	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta		0.403	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	C	NM_033292		104899968	-1	no_errors	ENST00000436863	ensembl	human	known	70_37	missense	SNP	0.018	G
CATSPER2P1	440278	genome.wustl.edu	37	15	44028365	44028365	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:44028365G>A	ENST00000381680.2	-	0	1419				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		TGAGGGCCCTGACCAGGACCA	0.478																																																	0																																												440278			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028365G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-		0.478	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	G	NR_002318		44028365	-1	no_errors	ENST00000381680	ensembl	human	known	70_37	rna	SNP	1.000	A
CAV2	858	genome.wustl.edu	37	7	116139970	116139970	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:116139970C>G	ENST00000222693.4	+	1	527	c.135C>G	c.(133-135)ctC>ctG	p.L45L	CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.L45L|CAV2_ENST00000343213.2_Silent_p.L45L|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	45					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			CCCACCGGCTCAACTCGCATC	0.706																																																	0													20.0	24.0	23.0					7																	116139970		2202	4300	6502	SO:0001819	synonymous_variant	858			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.135C>G	7.37:g.116139970C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0U2|Q9UGM7	Silent	SNP	pfam_Caveolin	p.L45	ENST00000222693.4	37	c.135	CCDS5766.1	7																																																																																			CAV2	-	pfam_Caveolin		0.706	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	C	NM_001233		116139970	+1	no_errors	ENST00000222693	ensembl	human	known	70_37	silent	SNP	1.000	G
CBLB	868	genome.wustl.edu	37	3	105459466	105459466	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:105459466G>C	ENST00000264122.4	-	7	1176	c.855C>G	c.(853-855)ttC>ttG	p.F285L	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.F285L|CBLB_ENST00000405772.1_Missense_Mutation_p.F285L|CBLB_ENST00000394027.3_Missense_Mutation_p.F307L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	285	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AACTTAACCGGAAAATATAGC	0.353			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													87.0	75.0	79.0					3																	105459466		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.855C>G	3.37:g.105459466G>C	ENSP00000264122:p.Phe285Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.F285L	ENST00000264122.4	37	c.855	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834622	0.71373	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.92	0.849	0.18972	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.993;0.997;1.0	D;D;D	0.91635	0.983;0.98;0.999	D	0.86719	0.1941	10	0.87932	D	0	-19.021	9.9385	0.41565	0.3543:0.0:0.6457:0.0	.	307;285;285	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	L	285;307;285;285	ENSP00000264122:F285L;ENSP00000377595:F307L;ENSP00000384816:F285L;ENSP00000384938:F285L	ENSP00000264122:F285L	F	-	3	2	CBLB	106942156	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	2.710000	0.47169	0.080000	0.16959	-0.827000	0.03088	TTC	CBLB	-	pfam_Adaptor_Cbl_SH2-like		0.353	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	G	NM_170662		105459466	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	C
CBLC	23624	genome.wustl.edu	37	19	45295700	45295700	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:45295700G>A	ENST00000270279.3	+	7	1129	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CBLC_ENST00000341505.4_Missense_Mutation_p.E310K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	356	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GATCTGTGCTGAGAGCAACAA	0.612			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													95.0	83.0	87.0					19																	45295700		2203	4300	6503	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1066G>A	19.37:g.45295700G>A	ENSP00000270279:p.Glu356Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.E356K	ENST00000270279.3	37	c.1066	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453463	0.63290	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.95622	-3.76;-3.76	4.13	4.13	0.48395	Zinc finger, RING-type (2);SH2 motif (1);Zinc finger, C3HC4 RING-type (1);	0.000000	0.43747	D	0.000528	D	0.96886	0.8983	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.76494	0.999;0.996	D;D	0.70935	0.971;0.939	D	0.97158	0.9836	10	0.72032	D	0.01	-28.695	14.2805	0.66208	0.0:0.0:1.0:0.0	.	310;356	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	K	356;310	ENSP00000270279:E356K;ENSP00000340250:E310K	ENSP00000270279:E356K	E	+	1	0	CBLC	49987540	1.000000	0.71417	0.201000	0.23476	0.310000	0.27922	8.789000	0.91839	2.326000	0.78906	0.643000	0.83706	GAG	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	G	NM_012116		45295700	+1	no_errors	ENST00000270279	ensembl	human	known	70_37	missense	SNP	0.997	A
CBWD1	55871	genome.wustl.edu	37	9	161591	161591	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:161591C>G	ENST00000356521.4	-	6	617				CBWD1_ENST00000314367.10_Intron|CBWD1_ENST00000431099.2_Intron|CBWD1_ENST00000382447.4_Intron|CBWD1_ENST00000377400.4_Intron|CBWD1_ENST00000377447.3_Intron	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		tccatatgctcagattgggaa	0.383																																																	0																																										SO:0001627	intron_variant	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.528+840G>C	9.37:g.161591C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	RNA	SNP	-	NULL	ENST00000356521.4	37	NULL	CCDS6438.1	9																																																																																			CBWD1	-	-		0.383	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	C	NM_018491		161591	-1	no_errors	ENST00000465014	ensembl	human	known	70_37	rna	SNP	0.009	G
CC2D2A	57545	genome.wustl.edu	37	4	15581639	15581639	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:15581639C>G	ENST00000503292.1	+	31	4000	c.3820C>G	c.(3820-3822)Caa>Gaa	p.Q1274E	CC2D2A_ENST00000424120.1_Missense_Mutation_p.Q1274E|CC2D2A_ENST00000389652.5_Missense_Mutation_p.Q1166E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.Q1274E	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1274					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGAGAAGTTTCAAGCTGAATG	0.343																																																	0													121.0	117.0	119.0					4																	15581639		1851	4098	5949	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3820C>G	4.37:g.15581639C>G	ENSP00000421809:p.Gln1274Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.Q1274E	ENST00000503292.1	37	c.3820	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181389	0.21787	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.16	5.16	0.70880	.	0.266810	0.36066	N	0.002809	D	0.83161	0.5194	N	0.17082	0.46	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.77146	-0.2695	10	0.02654	T	1	.	15.301	0.73952	0.0:0.8499:0.1501:0.0	.	1274;1166	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	E	1274;1274;1166;1166;1274;1166	ENSP00000403465:Q1274E;ENSP00000398391:Q1274E;ENSP00000421809:Q1274E;ENSP00000374303:Q1166E	ENSP00000374303:Q1166E	Q	+	1	0	CC2D2A	15190737	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.411000	0.81874	0.650000	0.86243	CAA	CC2D2A	-	NULL		0.343	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	C	NM_001080522		15581639	+1	no_errors	ENST00000413206	ensembl	human	known	70_37	missense	SNP	1.000	G
RP11-690P14.4	0	genome.wustl.edu	37	10	97752362	97752362	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:97752362C>T	ENST00000475252.2	+	0	834				ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA																							GGAAAAAAGTCACAGCGCAGG	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	387707																														ENST00000475252.2:c.*315C>T	10.37:g.97752362C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000475252.2	37	NULL		10																																																																																			CC2D2B	-	-		0.388	RP11-690P14.4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CC2D2B	HGNC	protein_coding	OTTHUMT00000468152.1	C			97752362	+1	no_errors	ENST00000475252	ensembl	human	known	70_37	rna	SNP	0.758	T
CFAP53	220136	genome.wustl.edu	37	18	47769346	47769346	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:47769346C>T	ENST00000398545.4	-	6	1254	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L		NM_145020.3	NP_659457.2												p.L379L(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTCAAGTCTCAGCTCCTTGT	0.413																																																	1	Substitution - coding silent(1)	pancreas(1)											263.0	265.0	264.0					18																	47769346		2108	4239	6347	SO:0001819	synonymous_variant	220136																														ENST00000398545.4:c.1137G>A	18.37:g.47769346C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L379	ENST00000398545.4	37	c.1137	CCDS11940.2	18																																																																																			CCDC11	-	NULL		0.413	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	C			47769346	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	silent	SNP	0.925	T
CCDC125	202243	genome.wustl.edu	37	5	68578623	68578623	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:68578623G>C	ENST00000396496.2	-	12	1576	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000511257.1_Missense_Mutation_p.S365C|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S490C			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	490						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATCTATTTGAGAGTGCTGGAT	0.378																																																	0													97.0	102.0	100.0					5																	68578623		2203	4300	6503	SO:0001583	missense	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1469C>G	5.37:g.68578623G>C	ENSP00000379754:p.Ser490Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Z19	Missense_Mutation	SNP	NULL	p.S490C	ENST00000396496.2	37	c.1469	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	G	7.192	0.591744	0.13812	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T	0.45668	0.89;0.89	4.93	1.55	0.23275	.	1.046130	0.07517	N	0.909886	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.41202	0.35	T	0.11817	-1.0572	10	0.35671	T	0.21	0.0018	6.7481	0.23472	0.1369:0.0:0.6761:0.1869	.	490	Q86Z20	CC125_HUMAN	C	490;490;365	ENSP00000379754:S490C;ENSP00000379756:S490C	ENSP00000379754:S490C	S	-	2	0	CCDC125	68614379	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.070000	0.11523	0.531000	0.28639	0.650000	0.86243	TCT	CCDC125	-	NULL		0.378	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	G	NM_176816		68578623	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	missense	SNP	0.000	C
CCDC125	202243	genome.wustl.edu	37	5	68581257	68581257	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:68581257C>G	ENST00000396496.2	-	11	1244	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H	CCDC125_ENST00000383374.2_Missense_Mutation_p.R284T|CCDC125_ENST00000511257.1_Missense_Mutation_p.Q254H|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q379H			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	379						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCAACAGTCTCTGCCCGAAGG	0.428																																																	0													140.0	132.0	134.0					5																	68581257		2203	4300	6503	SO:0001583	missense	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1137G>C	5.37:g.68581257C>G	ENSP00000379754:p.Gln379His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Z19	Missense_Mutation	SNP	NULL	p.Q379H	ENST00000396496.2	37	c.1137	CCDS4000.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.15|15.15	2.748960|2.748960	0.49257|0.49257	.|.	.|.	ENSG00000183323|ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257|ENST00000383374	T;T;T|T	0.52295|0.43294	0.67;0.67;0.67|0.95	5.88|5.88	2.12|2.12	0.27331|0.27331	.|.	0.123329|.	0.53938|.	D|.	0.000046|.	T|T	0.49167|0.49167	0.1541|0.1541	M|M	0.75447|0.75447	2.3|2.3	0.33946|0.33946	D|D	0.643872|0.643872	D|.	0.76494|.	0.999|.	D|.	0.65874|.	0.939|.	T|T	0.55872|0.55872	-0.8072|-0.8072	10|7	0.72032|0.30078	D|T	0.01|0.28	-11.7594|-11.7594	8.4112|8.4112	0.32644|0.32644	0.0:0.5237:0.0:0.4763|0.0:0.5237:0.0:0.4763	.|.	379|.	Q86Z20|.	CC125_HUMAN|.	H|T	379;379;254|284	ENSP00000379754:Q379H;ENSP00000379756:Q379H;ENSP00000426795:Q254H|ENSP00000372865:R284T	ENSP00000379754:Q379H|ENSP00000372865:R284T	Q|R	-|-	3|2	2|0	CCDC125|CCDC125	68617013|68617013	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.448000|0.448000	0.32197|0.32197	0.527000|0.527000	0.22987|0.22987	0.103000|0.103000	0.17682|0.17682	0.555000|0.555000	0.69702|0.69702	CAG|AGA	CCDC125	-	NULL		0.428	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	C	NM_176816		68581257	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	missense	SNP	0.995	G
CCDC13	152206	genome.wustl.edu	37	3	42791312	42791312	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:42791312C>G	ENST00000310232.6	-	5	687				CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTACTCACATCACGGCCTCCT	0.552											OREG0015509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.603+2115G>C	3.37:g.42791312C>G		Somatic	911	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000310232.6	37	NULL	CCDS2705.1	3																																																																																			CCDC13	-	-		0.552	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	C	NM_144719		42791312	-1	no_errors	ENST00000435327	ensembl	human	known	70_37	rna	SNP	0.000	G
CCDC134	79879	genome.wustl.edu	37	22	42205902	42205902	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:42205902G>A	ENST00000255784.5	+	3	227	c.123G>A	c.(121-123)gtG>gtA	p.V41V	CCDC134_ENST00000402061.3_Silent_p.V41V	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	41						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGTTTGAGGTGAAGCGGCGGG	0.522																																																	0													63.0	57.0	59.0					22																	42205902		2203	4300	6503	SO:0001819	synonymous_variant	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.123G>A	22.37:g.42205902G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V41	ENST00000255784.5	37	c.123	CCDS33654.1	22																																																																																			CCDC134	-	NULL		0.522	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	HGNC	protein_coding	OTTHUMT00000321964.1	G	NM_024821		42205902	+1	no_errors	ENST00000255784	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC144A	9720	genome.wustl.edu	37	17	16623539	16623539	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:16623539G>C	ENST00000360524.8	+	7	1819	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.K581N|CCDC144A_ENST00000443444.2_Missense_Mutation_p.K581N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.K581N|CCDC144A_ENST00000456009.1_Missense_Mutation_p.K301N	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	581																	CTAATGAAAAGAACGAGGTAT	0.249																																																	0													16.0	15.0	15.0					17																	16623539		1736	3926	5662	SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1743G>C	17.37:g.16623539G>C	ENSP00000353717:p.Lys581Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.K581N	ENST00000360524.8	37	c.1743	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.946|7.946	0.743787|0.743787	0.15642|0.15642	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495|ENST00000328495	T;T;T;T;T;T|.	0.28255|.	1.62;1.62;1.62;1.62;1.62;1.62|.	1.4|1.4	-1.05|-1.05	0.10036|0.10036	.|.	.|.	.|.	.|.	.|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.21194|0.21194	0.64|0.64	0.20873|0.20873	N|N	0.999839|0.999839	P;B|.	0.37276|.	0.589;0.264|.	B;B|.	0.43225|.	0.412;0.168|.	T|T	0.23619|0.23619	-1.0183|-1.0183	9|5	0.59425|.	D|.	0.04|.	.|.	1.9242|1.9242	0.03313|0.03313	0.2239:0.0:0.4585:0.3176|0.2239:0.0:0.4585:0.3176	.|.	301;581|.	A2RUR9-3;A2RUR9|.	.;C144A_HUMAN|.	N|T	581;581;581;581;301;581|65	ENSP00000382215:K581N;ENSP00000439262:K581N;ENSP00000440655:K581N;ENSP00000353717:K581N;ENSP00000394201:K301N;ENSP00000353685:K581N|.	ENSP00000353685:K581N|.	K|R	+|+	3|2	2|0	CCDC144A|CCDC144A	16564264|16564264	0.123000|0.123000	0.22298|0.22298	0.811000|0.811000	0.32455|0.32455	0.174000|0.174000	0.22865|0.22865	-0.176000|-0.176000	0.09811|0.09811	-0.258000|-0.258000	0.09446|0.09446	0.184000|0.184000	0.17185|0.17185	AAG|AGA	CCDC144A	-	NULL		0.249	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	G			16623539	+1	no_errors	ENST00000360524	ensembl	human	known	70_37	missense	SNP	0.925	C
CFAP58	159686	genome.wustl.edu	37	10	106139912	106139912	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:106139912G>C	ENST00000369704.3	+	9	1433	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	CCDC147_ENST00000312902.5_Missense_Mutation_p.K55N|CCDC147_ENST00000369703.1_Missense_Mutation_p.K55N	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		433						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCAGAGAAAGATCATCTTTC	0.493																																																	0													134.0	121.0	125.0					10																	106139912		2203	4300	6503	SO:0001583	missense	159686																														ENST00000369704.3:c.1299G>C	10.37:g.106139912G>C	ENSP00000358718:p.Lys433Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.K433N	ENST00000369704.3	37	c.1299	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328902	0.81690	.	.	ENSG00000120051	ENST00000369704;ENST00000312902;ENST00000369703	T	0.38240	1.15	4.95	4.05	0.47172	.	0.044340	0.85682	D	0.000000	T	0.53786	0.1818	M	0.85859	2.78	0.58432	D	0.999998	P	0.52170	0.951	P	0.52881	0.712	T	0.61642	-0.7021	10	0.87932	D	0	-30.0165	11.519	0.50541	0.084:0.0:0.916:0.0	.	433	Q5T655	CC147_HUMAN	N	433;55;55	ENSP00000358718:K433N	ENSP00000323620:K55N	K	+	3	2	CCDC147	106129902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.410000	0.52664	1.085000	0.41206	0.557000	0.71058	AAG	CCDC147	-	NULL		0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	G			106139912	+1	no_errors	ENST00000369704	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC159	126075	genome.wustl.edu	37	19	11462747	11462747	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11462747G>A	ENST00000588790.1	+	9	952	c.505G>A	c.(505-507)Gag>Aag	p.E169K	CCDC159_ENST00000458408.1_Missense_Mutation_p.E169K			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	284										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCAGGAGGATGAGATCTCAGA	0.582																																																	0													66.0	69.0	68.0					19																	11462747		1948	4132	6080	SO:0001583	missense	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.505G>A	19.37:g.11462747G>A	ENSP00000468232:p.Glu169Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	NULL	p.E169K	ENST00000588790.1	37	c.505	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874483	0.51695	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.54279	0.58	4.94	4.94	0.65067	.	.	.	.	.	T	0.69842	0.3156	M	0.63843	1.955	0.27267	N	0.958461	D;P;P	0.89917	1.0;0.93;0.93	D;P;P	0.85130	0.997;0.526;0.526	T	0.62609	-0.6818	9	0.46703	T	0.11	-26.1157	15.1239	0.72465	0.0:0.0:1.0:0.0	.	284;284;169	P0C7I6;P0C7I6-4;P0C7I6-2	CC159_HUMAN;.;.	K	169;284	ENSP00000402239:E169K	ENSP00000390400:E284K	E	+	1	0	CCDC159	11323747	1.000000	0.71417	0.822000	0.32727	0.120000	0.20174	6.569000	0.73992	2.296000	0.77279	0.555000	0.69702	GAG	CCDC159	-	NULL		0.582	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	G	NM_001080503		11462747	+1	no_errors	ENST00000458408	ensembl	human	known	70_37	missense	SNP	0.963	A
CCDC17	149483	genome.wustl.edu	37	1	46086415	46086415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46086415C>A	ENST00000528266.1	-	12	1837	c.1690G>T	c.(1690-1692)Gag>Tag	p.E564*	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Nonsense_Mutation_p.E555*|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000343901.2_Nonsense_Mutation_p.E532*			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	564										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TACTGGTACTCATGGACACTT	0.572																																																	0													88.0	69.0	76.0					1																	46086415		2203	4299	6502	SO:0001587	stop_gained	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1690G>T	1.37:g.46086415C>A	ENSP00000432172:p.Glu564*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Nonsense_Mutation	SNP	NULL	p.E532*	ENST00000528266.1	37	c.1594	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.635423	0.96682	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	.	.	.	5.92	4.99	0.66335	.	0.450890	0.22343	N	0.061315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-19.701	14.4033	0.67065	0.0:0.5975:0.4025:0.0	.	.	.	.	X	555;532;564	.	ENSP00000341451:E532X	E	-	1	0	CCDC17	45859002	0.061000	0.20836	0.788000	0.31933	0.783000	0.44284	0.848000	0.27710	1.469000	0.48083	0.655000	0.94253	GAG	CCDC17	-	NULL		0.572	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	C	NM_152500		46086415	-1	no_errors	ENST00000343901	ensembl	human	known	70_37	nonsense	SNP	0.700	A
CCDC175	729665	genome.wustl.edu	37	14	59977348	59977348	+	Intron	SNP	C	C	G	rs201314203		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:59977348C>G	ENST00000537690.2	-	19	2361				RP11-701B16.2_ENST00000554253.1_RNA|CCDC175_ENST00000281581.4_Missense_Mutation_p.R774T	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175																		TACCAAAGCTCTAAGCTGTTG	0.418																																																	0													136.0	102.0	112.0					14																	59977348		692	1591	2283	SO:0001627	intron_variant	729665				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.2305+15G>C	14.37:g.59977348C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.R774T	ENST00000537690.2	37	c.2321	CCDS53898.1	14																																																																																			CCDC175	-	NULL		0.418	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1	C	NM_001164399		59977348	-1	no_errors	ENST00000281581	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC66	285331	genome.wustl.edu	37	3	56597937	56597937	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:56597937G>C	ENST00000394672.3	+	4	398	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000538560.1_Missense_Mutation_p.E110Q|CCDC66_ENST00000436465.2_Missense_Mutation_p.E110Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.E76Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	110					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATCCAGAAAGAGATTTCACC	0.358																																																	0													61.0	56.0	58.0					3																	56597937		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.328G>C	3.37:g.56597937G>C	ENSP00000378167:p.Glu110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.E110Q	ENST00000394672.3	37	c.328	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	6.274	0.418751	0.11870	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	5.75	3.64	0.41730	.	.	.	.	.	T	0.04770	0.0129	L	0.51422	1.61	0.09310	N	1	B;B	0.30973	0.145;0.302	B;B	0.34779	0.146;0.189	T	0.28073	-1.0055	9	0.56958	D	0.05	-2.5462	10.6906	0.45869	0.1756:0.0:0.8244:0.0	.	110;110	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	Q	110;110;76;110;110	ENSP00000401451:E110Q;ENSP00000378167:E110Q;ENSP00000326050:E76Q;ENSP00000404320:E110Q;ENSP00000444919:E110Q	ENSP00000326050:E76Q	E	+	1	0	CCDC66	56572977	0.430000	0.25538	0.004000	0.12327	0.039000	0.13416	1.651000	0.37302	1.419000	0.47118	0.655000	0.94253	GAG	CCDC66	-	NULL		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	G	NM_001012506		56597937	+1	no_errors	ENST00000394672	ensembl	human	known	70_37	missense	SNP	0.005	C
CCDC66	285331	genome.wustl.edu	37	3	56653391	56653391	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:56653391G>C	ENST00000394672.3	+	16	2541	c.2471G>C	c.(2470-2472)aGa>aCa	p.R824T	CCDC66_ENST00000326595.7_Missense_Mutation_p.R790T|CCDC66_ENST00000436465.2_Missense_Mutation_p.R824T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	824					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGCTATGAGAGAGAGAATTTG	0.338																																																	0													82.0	90.0	88.0					3																	56653391		2203	4299	6502	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2471G>C	3.37:g.56653391G>C	ENSP00000378167:p.Arg824Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.R824T	ENST00000394672.3	37	c.2471	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834404	0.32421	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.24350	1.86;1.86;1.86	4.9	-1.42	0.08913	.	0.732309	0.13331	N	0.395887	T	0.17365	0.0417	L	0.60455	1.87	0.80722	D	1	P	0.38078	0.617	B	0.34242	0.178	T	0.25012	-1.0144	10	0.13470	T	0.59	-0.2463	5.6397	0.17557	0.3187:0.0:0.5547:0.1266	.	824	A2RUB6	CCD66_HUMAN	T	824;790;824	ENSP00000378167:R824T;ENSP00000326050:R790T;ENSP00000404320:R824T	ENSP00000326050:R790T	R	+	2	0	CCDC66	56628431	0.973000	0.33851	0.044000	0.18714	0.034000	0.12701	0.165000	0.16564	-0.081000	0.12662	0.591000	0.81541	AGA	CCDC66	-	NULL		0.338	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	G	NM_001012506		56653391	+1	no_errors	ENST00000394672	ensembl	human	known	70_37	missense	SNP	0.929	C
EFCC1	79825	genome.wustl.edu	37	3	128751707	128751707	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128751707C>G	ENST00000480450.1	+	4	1181	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	EFCC1_ENST00000436022.2_5'UTR			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	394							calcium ion binding (GO:0005509)										CAGGCCGCCTCTGACgaggag	0.667																																																	0													33.0	44.0	41.0					3																	128751707		692	1591	2283	SO:0001583	missense	79825			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1181C>G	3.37:g.128751707C>G	ENSP00000420075:p.Ser394Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYE2	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S394C	ENST00000480450.1	37	c.1181	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220081	0.79464	.	.	ENSG00000114654	ENST00000480450	T	0.62941	-0.01	4.87	4.87	0.63330	.	.	.	.	.	T	0.76637	0.4015	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79572	-0.1748	9	0.87932	D	0	.	15.5064	0.75745	0.0:1.0:0.0:0.0	.	394	Q9HA90	CCD48_HUMAN	C	394	ENSP00000420075:S394C	ENSP00000420075:S394C	S	+	2	0	CCDC48	130234397	1.000000	0.71417	0.991000	0.47740	0.780000	0.44128	6.033000	0.70925	2.232000	0.73038	0.591000	0.81541	TCT	CCDC48	-	NULL		0.667	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC48	HGNC	protein_coding	OTTHUMT00000352832.1	C	NM_024768		128751707	+1	no_errors	ENST00000480450	ensembl	human	novel	70_37	missense	SNP	1.000	G
KDM5A	5927	genome.wustl.edu	37	12	498568	498568	+	5'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:498568C>G	ENST00000399788.2	-	0	52				KDM5A_ENST00000382815.4_5'UTR|CCDC77_ENST00000540180.1_5'UTR|CCDC77_ENST00000422000.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A						chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTCTTCTTCTCTTCCCCGGCA	0.607			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0																																										SO:0001623	5_prime_UTR_variant	84318				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.-311G>C	12.37:g.498568C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	RNA	SNP	-	NULL	ENST00000399788.2	37	NULL	CCDS41736.1	12																																																																																			CCDC77	-	-		0.607	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		498568	+1	no_errors	ENST00000537453	ensembl	human	putative	70_37	rna	SNP	0.000	G
CCDC88A	55704	genome.wustl.edu	37	2	55563907	55563907	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:55563907C>T	ENST00000436346.1	-	14	2407	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.Q522Q|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.Q522Q|CCDC88A_ENST00000336838.6_Silent_p.Q522Q|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	522					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCTGACAATTCTGAAGACTTT	0.313																																																	0													64.0	64.0	64.0					2																	55563907		2202	4292	6494	SO:0001819	synonymous_variant	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1566G>A	2.37:g.55563907C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.Q522	ENST00000436346.1	37	c.1566		2																																																																																			CCDC88A	-	pfam_HOOK,superfamily_t-SNARE		0.313	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55563907	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	silent	SNP	1.000	T
CCDC91	55297	genome.wustl.edu	37	12	28544303	28544303	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:28544303G>C	ENST00000545336.1	+	11	1140	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.E211Q|CCDC91_ENST00000381259.1_Missense_Mutation_p.E241Q|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Intron			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	241	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTCTGCAATTGAGAAACAGGC	0.388																																																	0													90.0	89.0	89.0					12																	28544303		2203	4300	6503	SO:0001583	missense	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.721G>C	12.37:g.28544303G>C	ENSP00000438040:p.Glu241Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	NULL	p.E241Q	ENST00000545336.1	37	c.721	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600676	0.66332	.	.	ENSG00000123106	ENST00000540794;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000306172	T;T;T;T;T;T	0.54279	0.58;1.33;1.35;1.33;1.35;1.34	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000071	T	0.60483	0.2272	N	0.24115	0.695	0.35300	D	0.782922	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.70702	-0.4799	10	0.66056	D	0.02	.	16.1755	0.81847	0.0:0.0:1.0:0.0	.	241;211	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	Q	37;241;241;241;241;211	ENSP00000441714:E37Q;ENSP00000445660:E241Q;ENSP00000438040:E241Q;ENSP00000442544:E241Q;ENSP00000370658:E241Q;ENSP00000305075:E211Q	ENSP00000305075:E211Q	E	+	1	0	CCDC91	28435570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.181000	0.71988	2.569000	0.86673	0.650000	0.86243	GAG	CCDC91	-	NULL		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	G	NM_018318		28544303	+1	no_errors	ENST00000381259	ensembl	human	known	70_37	missense	SNP	1.000	C
CCL15	6359	genome.wustl.edu	37	17	34325388	34325388	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:34325388G>A	ENST00000354059.4	-	3	728	c.176C>T	c.(175-177)tCa>tTa	p.S59L	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.S59L|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	59					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATGCTTTGTGAGATGTAGGA	0.498																																																	0													76.0	65.0	69.0					17																	34325388		2203	4300	6503	SO:0001583	missense	6359			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.176C>T	17.37:g.34325388G>A	ENSP00000293276:p.Ser59Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.S59L	ENST00000354059.4	37	c.176	CCDS11304.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.792046|1.792046	0.31685|0.31685	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000394506|ENST00000354059	.|T	.|0.15718	.|2.4	4.44|4.44	-3.29|-3.29	0.05017|0.05017	.|CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.|2.439520	.|0.02050	.|N	.|0.049956	T|T	0.20170|0.20170	0.0485|0.0485	L|L	0.61036|0.61036	1.89|1.89	0.09310|0.09310	N|N	1|1	.|P	.|0.44521	.|0.837	.|P	.|0.45794	.|0.493	T|T	0.30822|0.30822	-0.9965|-0.9965	5|10	.|0.56958	.|D	.|0.05	.|.	0.769|0.769	0.01020|0.01020	0.1828:0.2836:0.2449:0.2887|0.1828:0.2836:0.2449:0.2887	.|.	.|59	.|Q16663	.|CCL15_HUMAN	Y|L	7|59	.|ENSP00000293276:S59L	.|ENSP00000293276:S59L	H|S	-|-	1|2	0|0	CCL15|CCL15	31349501|31349501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.243000|-0.243000	0.08915|0.08915	-0.298000|-0.298000	0.08921|0.08921	-0.152000|-0.152000	0.13540|0.13540	CAC|TCA	CCL15	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.498	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL15	HGNC	protein_coding	OTTHUMT00000256584.2	G	NM_004167		34325388	-1	no_errors	ENST00000354059	ensembl	human	known	70_37	missense	SNP	0.000	A
CCR2	729230	genome.wustl.edu	37	3	46398967	46398967	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:46398967G>C	ENST00000292301.4	+	2	434		c.e2-1		CCR2_ENST00000400888.2_5'Flank|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Splice_Site	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2						blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTTGTTTACAGAACAGAGAAA	0.443																																																	0													64.0	58.0	60.0					3																	46398967		876	1991	2867	SO:0001630	splice_region_variant	729230				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000292301.4:c.-51-1G>C	3.37:g.46398967G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVQ3|B2RMT0|Q4VBL2	Splice_Site	SNP	-	e1-1	ENST00000292301.4	37	c.1-1	CCDS43078.1	3																																																																																			CCR2	-	-		0.443	CCR2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding		G	NM_000647	Intron	46398967	+1	no_errors	ENST00000292301	ensembl	human	known	70_37	splice_site	SNP	0.192	C
CCT3	7203	genome.wustl.edu	37	1	156290680	156290680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156290680C>A	ENST00000295688.3	-	7	839	c.559G>T	c.(559-561)Gag>Tag	p.E187*	CCT3_ENST00000472765.2_Nonsense_Mutation_p.E142*|CCT3_ENST00000368259.2_Nonsense_Mutation_p.E149*|CCT3_ENST00000368261.3_Nonsense_Mutation_p.E142*	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	187					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CGACCATTCTCCTCAAACTGT	0.393																																																	0													271.0	256.0	261.0					1																	156290680		2203	4300	6503	SO:0001587	stop_gained	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.559G>T	1.37:g.156290680C>A	ENSP00000295688:p.Glu187*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE14|Q5SZY1|Q9BR64	Nonsense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.E187*	ENST00000295688.3	37	c.559	CCDS1140.2	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267630	0.80469	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000533194;ENST00000446905	.	.	.	5.94	5.94	0.96194	.	0.056850	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-25.4636	15.8617	0.79026	0.0:1.0:0.0:0.0	.	.	.	.	X	187;149;142;142;211;186;108;173	.	ENSP00000295688:E187X	E	-	1	0	CCT3	154557304	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.818000	0.97014	0.637000	0.83480	GAG	CCT3	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma		0.393	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	C	NM_005998		156290680	-1	no_errors	ENST00000295688	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CCT5	22948	genome.wustl.edu	37	5	10261015	10261015	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:10261015G>A	ENST00000280326.4	+	7	1405	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	CCT5_ENST00000506600.1_Missense_Mutation_p.E236K|CCT5_ENST00000503026.1_Missense_Mutation_p.E308K|CCT5_ENST00000515676.1_Missense_Mutation_p.E291K|CCT5_ENST00000515390.1_Missense_Mutation_p.E274K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	329					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGGAGGACCTGAAATTGAGGT	0.453																																																	0													239.0	248.0	245.0					5																	10261015		2203	4300	6503	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.985G>A	5.37:g.10261015G>A	ENSP00000280326:p.Glu329Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.E329K	ENST00000280326.4	37	c.985	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.132664	0.97310	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94102	0.8109	H	0.97983	4.12	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.908;0.999;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.976;0.759;0.976;1.0;1.0;1.0	D	0.95685	0.8735	10	0.72032	D	0.01	-39.0978	19.0925	0.93233	0.0:0.0:1.0:0.0	.	236;274;178;327;329;329	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	K	329;308;274;302;291;236	ENSP00000280326:E329K;ENSP00000423318:E308K;ENSP00000426923:E274K;ENSP00000427297:E291K;ENSP00000423052:E236K	ENSP00000280326:E329K	E	+	1	0	CCT5	10314015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.181000	0.94874	2.746000	0.94184	0.586000	0.80456	GAA	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi		0.453	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	G			10261015	+1	no_errors	ENST00000280326	ensembl	human	known	70_37	missense	SNP	1.000	A
CCT6P1	643253	genome.wustl.edu	37	7	65228309	65228309	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:65228309C>G	ENST00000442266.1	+	0	1283									chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TGAGATCATGCGAGCTGGAAT	0.423																																																	0																																												643253			BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65228309C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000442266.1	37	NULL		7																																																																																			CCT6P1	-	-		0.423	CCT6P1-003	KNOWN	basic	processed_transcript	CCT6P1	HGNC	pseudogene	OTTHUMT00000345507.1	C	NR_003110		65228309	+1	no_errors	ENST00000442266	ensembl	human	known	70_37	rna	SNP	0.990	G
CD8B	926	genome.wustl.edu	37	2	87085223	87085223	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:87085223C>T	ENST00000390655.6	-	2	418	c.360G>A	c.(358-360)ggG>ggA	p.G120G	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Silent_p.G120G|CD8B_ENST00000349455.3_Silent_p.G120G|CD8B_ENST00000331469.2_Silent_p.G120G|CD8B_ENST00000393761.2_Silent_p.G120G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	120	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCGGGGCTCCCGACGATCA	0.547																																																	0													109.0	109.0	109.0					2																	87085223		2203	4300	6503	SO:0001819	synonymous_variant	926				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.360G>A	2.37:g.87085223C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G120	ENST00000390655.6	37	c.360	CCDS1997.1	2																																																																																			CD8B	-	pfam_Ig_V-set,smart_Ig_sub		0.547	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	C	NM_172099		87085223	-1	no_errors	ENST00000331469	ensembl	human	known	70_37	silent	SNP	0.000	T
CD99L2	83692	genome.wustl.edu	37	X	149998024	149998024	+	Intron	SNP	G	G	T	rs187091748		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:149998024G>T	ENST00000370377.3	-	2	248				CD99L2_ENST00000320893.6_Missense_Mutation_p.L62M|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aacagtgacagaataaagttc	0.408																																																	0																																										SO:0001627	intron_variant	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.130+1679C>A	X.37:g.149998024G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	NULL	p.L62M	ENST00000370377.3	37	c.184	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	G	3.957	-0.011065	0.07727	.	.	ENSG00000102181	ENST00000320893	.	.	.	1.46	1.46	0.22682	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	.	5.8625	0.18757	0.0:0.0:1.0:0.0	.	.	.	.	M	62	.	.	L	-	1	2	CD99L2	149748682	0.009000	0.17119	0.005000	0.12908	0.335000	0.28730	0.576000	0.23744	1.021000	0.39600	0.436000	0.28706	CTG	CD99L2	-	NULL		0.408	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	G	NM_031462		149998024	-1	no_errors	ENST00000320893	ensembl	human	known	70_37	missense	SNP	0.006	T
CDC23	8697	genome.wustl.edu	37	5	137534364	137534364	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137534364G>C	ENST00000394886.2	-	7	792	c.762C>G	c.(760-762)ctC>ctG	p.L254L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	254					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCACATCAATGAGATTCTGAT	0.403																																																	0													149.0	160.0	156.0					5																	137534364		2203	4300	6503	SO:0001819	synonymous_variant	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.762C>G	5.37:g.137534364G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	pfam_APC8,pfam_TPR-1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L254	ENST00000394886.2	37	c.762	CCDS4200.2	5																																																																																			CDC23	-	pfscan_TPR-contain_dom		0.403	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC23	HGNC	protein_coding	OTTHUMT00000251275.2	G			137534364	-1	no_errors	ENST00000394886	ensembl	human	known	70_37	silent	SNP	1.000	C
CDC42BPA	8476	genome.wustl.edu	37	1	227381439	227381439	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:227381439G>C	ENST00000366769.3	-	5	1891				CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366766.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000334218.5_Intron	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGTTGCTAGATATTACATG	0.353																																																	0													56.0	55.0	55.0					1																	227381439		2203	4300	6503	SO:0001627	intron_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.599+47C>G	1.37:g.227381439G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000366769.3	37	NULL	CCDS1558.1	1																																																																																			CDC42BPA	-	-		0.353	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	G	NM_014826		227381439	-1	no_errors	ENST00000478573	ensembl	human	known	70_37	rna	SNP	0.000	C
CDCA2	157313	genome.wustl.edu	37	8	25317769	25317769	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:25317769C>G	ENST00000330560.3	+	2	491	c.14C>G	c.(13-15)tCa>tGa	p.S5*	KCTD9_ENST00000221200.4_5'Flank|KCTD9_ENST00000518067.1_5'Flank|CDCA2_ENST00000380665.3_5'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	5					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GATGCCAATTCAAAAGACAAG	0.418																																																	0													164.0	151.0	155.0					8																	25317769		2203	4300	6503	SO:0001587	stop_gained	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.14C>G	8.37:g.25317769C>G	ENSP00000328228:p.Ser5*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Nonsense_Mutation	SNP	NULL	p.S5*	ENST00000330560.3	37	c.14	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	C	40	7.970104	0.98588	.	.	ENSG00000184661	ENST00000330560;ENST00000435898	.	.	.	5.07	3.27	0.37495	.	0.640640	0.13748	N	0.365479	.	.	.	.	.	.	0.25937	N	0.982921	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3805	7.9408	0.29957	0.0:0.8084:0.0:0.1916	.	.	.	.	X	5	.	ENSP00000328228:S5X	S	+	2	0	CDCA2	25373686	0.009000	0.17119	0.005000	0.12908	0.702000	0.40608	0.501000	0.22578	0.528000	0.28580	0.455000	0.32223	TCA	CDCA2	-	NULL		0.418	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	C	NM_152562		25317769	+1	no_errors	ENST00000330560	ensembl	human	known	70_37	nonsense	SNP	0.024	G
CDCA5	113130	genome.wustl.edu	37	11	64847036	64847036	+	Missense_Mutation	SNP	G	G	C	rs34020666	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64847036G>C	ENST00000275517.3	-	5	639	c.467C>G	c.(466-468)tCt>tGt	p.S156C	CDCA5_ENST00000404147.3_Missense_Mutation_p.S156C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	156			S -> Y (in dbSNP:rs34020666).		double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGGAGGTAGAGGCAGAGCC	0.617																																																	0													32.0	36.0	35.0					11																	64847036		2201	4297	6498	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.467C>G	11.37:g.64847036G>C	ENSP00000275517:p.Ser156Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K625	Missense_Mutation	SNP	pfam_Sororin	p.S156C	ENST00000275517.3	37	c.467	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902338	0.52227	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.48201	0.82;0.82	5.55	4.64	0.57946	.	0.508629	0.20638	N	0.088449	T	0.61123	0.2322	M	0.63428	1.95	0.21822	N	0.999528	D	0.63046	0.992	P	0.59948	0.866	T	0.56050	-0.8043	10	0.72032	D	0.01	.	12.3025	0.54882	0.0826:0.0:0.9174:0.0	.	156	Q96FF9	CDCA5_HUMAN	C	156	ENSP00000275517:S156C;ENSP00000385711:S156C	ENSP00000275517:S156C	S	-	2	0	CDCA5	64603612	0.998000	0.40836	0.120000	0.21714	0.253000	0.25986	3.649000	0.54417	1.338000	0.45544	0.650000	0.86243	TCT	CDCA5	-	pfam_Sororin		0.617	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	G	NM_080668		64847036	-1	no_errors	ENST00000275517	ensembl	human	known	70_37	missense	SNP	0.588	C
CDCA5	113130	genome.wustl.edu	37	11	64847126	64847126	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64847126G>A	ENST00000275517.3	-	5	549	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CDCA5_ENST00000404147.3_Missense_Mutation_p.S126F	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	126					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCTTCCTTGGAGCTGGACTC	0.602																																																	0													18.0	19.0	19.0					11																	64847126		2198	4296	6494	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.377C>T	11.37:g.64847126G>A	ENSP00000275517:p.Ser126Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K625	Missense_Mutation	SNP	pfam_Sororin	p.S126F	ENST00000275517.3	37	c.377	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060914	0.55432	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.47869	0.83;0.83	5.14	1.48	0.22813	.	0.790098	0.12238	N	0.486808	T	0.38214	0.1032	M	0.63428	1.95	0.09310	N	1	B	0.29481	0.245	B	0.27608	0.081	T	0.40813	-0.9543	10	0.52906	T	0.07	.	1.6474	0.02764	0.1368:0.2065:0.4448:0.212	.	126	Q96FF9	CDCA5_HUMAN	F	126	ENSP00000275517:S126F;ENSP00000385711:S126F	ENSP00000275517:S126F	S	-	2	0	CDCA5	64603702	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.262000	0.18460	0.581000	0.29539	0.637000	0.83480	TCC	CDCA5	-	pfam_Sororin		0.602	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	G	NM_080668		64847126	-1	no_errors	ENST00000275517	ensembl	human	known	70_37	missense	SNP	0.001	A
CDH10	1008	genome.wustl.edu	37	5	24487404	24487404	+	3'UTR	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:24487404C>A	ENST00000264463.4	-	0	3242				CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAATTTTTCTTCACCTTTT	0.353										HNSCC(23;0.051)																																							0																																										SO:0001624	3_prime_UTR_variant	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.*368G>T	5.37:g.24487404C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULB3	RNA	SNP	-	NULL	ENST00000264463.4	37	NULL	CCDS3892.1	5																																																																																			CDH10	-	-		0.353	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24487404	-1	no_errors	ENST00000502921	ensembl	human	known	70_37	rna	SNP	0.971	A
CDHR2	54825	genome.wustl.edu	37	5	175998219	175998219	+	Missense_Mutation	SNP	G	G	C	rs6886860	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:175998219G>C	ENST00000510636.1	+	6	595	c.321G>C	c.(319-321)caG>caC	p.Q107H	CDHR2_ENST00000506348.1_Missense_Mutation_p.Q107H|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q107H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Q -> H (in dbSNP:rs6886860).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCAGGTGCAGAGGGAGATGC	0.488																																																	0								G	HIS/GLN,HIS/GLN	0,4406		0,0,2203	76.0	65.0	69.0		321,321	1.4	0.0	5	dbSNP_116	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	24,24	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	107/1311,107/1311	175998219	1,13005	2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.321G>C	5.37:g.175998219G>C	ENSP00000424565:p.Gln107His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q107H	ENST00000510636.1	37	c.321	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	8.886	0.952747	0.18431	0.0	1.16E-4	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60920	0.15;0.15;0.15	4.21	1.36	0.22044	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35422	0.0931	N	0.19112	0.55	0.09310	N	1	P	0.42337	0.776	B	0.37780	0.258	T	0.11941	-1.0567	9	0.34782	T	0.22	-0.1856	4.6582	0.12628	0.285:0.1734:0.5415:0.0	rs6886860;rs52811604;rs6886860	107	Q9BYE9	CDHR2_HUMAN	H	107	ENSP00000424565:Q107H;ENSP00000261944:Q107H;ENSP00000421078:Q107H	ENSP00000261944:Q107H	Q	+	3	2	CDHR2	175930825	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.088000	0.11198	0.143000	0.18926	0.555000	0.69702	CAG	CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	G	NM_017675		175998219	+1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.000	C
CDK10	8558	genome.wustl.edu	37	16	89758907	89758907	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89758907G>C	ENST00000353379.7	+	6	511	c.468G>C	c.(466-468)agG>agC	p.R156S	CDK10_ENST00000331006.8_Missense_Mutation_p.R109S|CDK10_ENST00000505473.1_Missense_Mutation_p.R85S	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		ATCTGCACAGGAACTTCATTA	0.567																																																	0													85.0	77.0	80.0					16																	89758907		2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.468G>C	16.37:g.89758907G>C	ENSP00000338673:p.Arg156Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R156S	ENST00000353379.7	37	c.468	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	3.407	-0.120949	0.06838	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.37752	1.18;1.18;1.18	4.51	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.660764	0.16561	N	0.209035	T	0.10208	0.0250	N	0.00855	-1.145	0.33740	D	0.619283	B;B;B;B;B;B	0.18013	0.001;0.001;0.0;0.0;0.001;0.025	B;B;B;B;B;B	0.20577	0.007;0.007;0.004;0.001;0.002;0.03	T	0.25847	-1.0120	10	0.08381	T	0.77	-17.6649	7.6784	0.28499	0.1018:0.1709:0.7273:0.0	.	150;85;156;85;85;114	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2	.;.;CDK10_HUMAN;.;.;.	S	109;127;85;156	ENSP00000329957:R109S;ENSP00000424415:R85S;ENSP00000338673:R156S	ENSP00000329957:R109S	R	+	3	2	CDK10	88286408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.418000	0.34782	2.333000	0.79357	0.491000	0.48974	AGG	CDK10	-	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		0.567	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89758907	+1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	1.000	C
CDK5RAP3	80279	genome.wustl.edu	37	17	46054077	46054077	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:46054077G>A	ENST00000338399.4	+	9	904		c.e9-1		CDK5RAP3_ENST00000536708.2_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCCCTTTCCAGATTGACTGGG	0.552																																																	0													71.0	68.0	69.0					17																	46054077		1912	4119	6031	SO:0001630	splice_region_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.799-1G>A	17.37:g.46054077G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	-	e9-1	ENST00000338399.4	37	c.799-1	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260030	0.59321	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3575	0.90362	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43409076	1.000000	0.71417	0.996000	0.52242	0.611000	0.37282	8.363000	0.90103	2.626000	0.88956	0.655000	0.94253	.	CDK5RAP3	-	-		0.552	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	G	NM_176096	Intron	46054077	+1	no_errors	ENST00000338399	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CDKAL1	54901	genome.wustl.edu	37	6	20649602	20649602	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:20649602C>T	ENST00000378610.1	+	3	375	c.365C>T	c.(364-366)tCa>tTa	p.S122L	CDKAL1_ENST00000378624.4_Missense_Mutation_p.S52L|CDKAL1_ENST00000274695.4_Missense_Mutation_p.S122L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	122	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTTAGAAACTCAATTAAGTAA	0.279																																																	0													57.0	61.0	60.0					6																	20649602		2203	4300	6503	SO:0001583	missense	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.365C>T	6.37:g.20649602C>T	ENSP00000367873:p.Ser122Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.S122L	ENST00000378610.1	37	c.365	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570365	0.28003	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.42900	0.96;0.97;0.96	5.9	5.9	0.94986	Methylthiotransferase, N-terminal (2);	0.139643	0.49305	D	0.000142	T	0.07863	0.0197	N	0.00666	-1.275	0.42929	D	0.994311	B;B	0.18310	0.027;0.003	B;B	0.15052	0.012;0.01	T	0.23119	-1.0197	10	0.20519	T	0.43	-14.8935	18.0434	0.89325	0.0:1.0:0.0:0.0	.	52;122	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	L	122;52;122	ENSP00000274695:S122L;ENSP00000367889:S52L;ENSP00000367873:S122L	ENSP00000274695:S122L	S	+	2	0	CDKAL1	20757581	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.025000	0.70864	2.793000	0.96121	0.591000	0.81541	TCA	CDKAL1	-	pfam_Methylthiotransferase_N,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase		0.279	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	C	NM_017774		20649602	+1	no_errors	ENST00000274695	ensembl	human	known	70_37	missense	SNP	1.000	T
CDKN2B	1030	genome.wustl.edu	37	9	22008871	22008871	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:22008871C>G	ENST00000276925.6	-	1	491	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B_ENST00000539462.1_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B_ENST00000380142.4_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	28					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGCACCTTCTCCACTAGTCCC	0.716											OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Whole gene deletion(2)	lung(2)											12.0	13.0	13.0					9																	22008871		2196	4284	6480	SO:0001583	missense	1030			AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.82G>C	9.37:g.22008871C>G	ENSP00000276925:p.Glu28Gln	Somatic	752	WXS	Illumina HiSeq	Phase_IV	O15125|Q6FI09	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E28Q	ENST00000276925.6	37	c.82	CCDS6512.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522725	0.64747	.	.	ENSG00000147883	ENST00000276925;ENST00000380142;ENST00000539462	T;T;T	0.80738	-1.41;1.42;1.42	5.86	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.333543	0.30781	N	0.008888	T	0.81143	0.4761	L	0.49513	1.565	0.32358	N	0.557508	B;D	0.61080	0.13;0.989	B;P	0.52957	0.266;0.714	D	0.83857	0.0266	10	0.48119	T	0.1	-21.4222	11.2729	0.49150	0.0:0.9141:0.0:0.0859	.	28;28	P42772;O15125	CDN2B_HUMAN;.	Q	28	ENSP00000276925:E28Q;ENSP00000369487:E28Q;ENSP00000445136:E28Q	ENSP00000276925:E28Q	E	-	1	0	CDKN2B	21998871	0.592000	0.26832	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	2.775000	0.95449	0.650000	0.86243	GAG	CDKN2B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.716	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2B	HGNC	protein_coding	OTTHUMT00000051932.2	C	NM_004936		22008871	-1	no_errors	ENST00000276925	ensembl	human	known	70_37	missense	SNP	1.000	G
CDON	50937	genome.wustl.edu	37	11	125880590	125880590	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:125880590C>G	ENST00000392693.3	-	8	1326		c.e8-1		CDON_ENST00000263577.7_Splice_Site	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AATCCACCGTCTATTAAAAAA	0.403																																																	0													41.0	41.0	41.0					11																	125880590		2201	4299	6500	SO:0001630	splice_region_variant	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1199-1G>C	11.37:g.125880590C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O14631	Splice_Site	SNP	-	e7-1	ENST00000392693.3	37	c.1199-1	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510308	0.44660	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000534661	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9328	0.89004	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDON	125385800	0.982000	0.34865	0.995000	0.50966	0.511000	0.34104	4.917000	0.63369	2.312000	0.78011	0.585000	0.79938	.	CDON	-	-		0.403	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	C	NM_016952	Intron	125880590	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	splice_site	SNP	0.993	G
CDS2	8760	genome.wustl.edu	37	20	5169736	5169736	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:5169736C>T	ENST00000460006.1	+	11	1312	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CDS2_ENST00000535100.1_Silent_p.F105F|CDS2_ENST00000379062.4_Silent_p.F215F|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	335					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGTACCCCTTCCAGATTCACA	0.453																																																	0													173.0	161.0	165.0					20																	5169736		2203	4300	6503	SO:0001819	synonymous_variant	8760			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1005C>T	20.37:g.5169736C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.F335	ENST00000460006.1	37	c.1005	CCDS13088.1	20																																																																																			CDS2	-	pfam_PC_trans,pirsf_PC_Trfase_euk		0.453	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	C			5169736	+1	no_errors	ENST00000460006	ensembl	human	known	70_37	silent	SNP	1.000	T
CECR1	51816	genome.wustl.edu	37	22	17672622	17672622	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:17672622C>T	ENST00000399839.1	-	5	1102	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000330232.4_Missense_Mutation_p.E37K|CECR1_ENST00000399837.2_Missense_Mutation_p.E278K|CECR1_ENST00000449907.2_Missense_Mutation_p.E236K|CECR1_ENST00000262607.3_Missense_Mutation_p.E278K	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	278					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGTGAGTTTCCACAAACTTC	0.478																																																	0													172.0	169.0	170.0					22																	17672622		2203	4300	6503	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.832G>A	22.37:g.17672622C>T	ENSP00000382733:p.Glu278Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.E278K	ENST00000399839.1	37	c.832	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	5.114	0.206720	0.09704	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	3.58	0.0741	0.14393	Adenosine/AMP deaminase (1);	0.712485	0.13792	N	0.362422	T	0.78767	0.4335	N	0.02275	-0.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.69304	-0.5180	10	0.05833	T	0.94	.	4.4193	0.11472	0.0:0.3078:0.1661:0.5261	.	278;37	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	K	278;37;278;236;278	ENSP00000382733:E278K;ENSP00000332871:E37K;ENSP00000262607:E278K;ENSP00000406443:E236K;ENSP00000382731:E278K	ENSP00000262607:E278K	E	-	1	0	CECR1	16052622	0.000000	0.05858	0.000000	0.03702	0.807000	0.45602	-0.029000	0.12329	-0.001000	0.14495	0.313000	0.20887	GAA	CECR1	-	pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like		0.478	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	C			17672622	-1	no_errors	ENST00000262607	ensembl	human	known	70_37	missense	SNP	0.000	T
CECR2	27443	genome.wustl.edu	37	22	18027888	18027888	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:18027888G>C	ENST00000400585.2	+	17	2857	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	CECR2_ENST00000400573.5_Missense_Mutation_p.E949Q|CECR2_ENST00000262608.8_Missense_Mutation_p.E950Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	991					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGTACTTCAGAGGGGGTCTA	0.502																																																	0													34.0	36.0	35.0					22																	18027888		1947	4147	6094	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2419G>C	22.37:g.18027888G>C	ENSP00000383428:p.Glu807Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E949Q	ENST00000400585.2	37	c.2845		22	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022844	0.35701	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28255	1.74;1.73;1.62	4.13	4.13	0.48395	.	0.141960	0.31648	N	0.007290	T	0.45836	0.1362	M	0.62723	1.935	0.34864	D	0.742883	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.55713	0.782;0.782;0.782	T	0.62863	-0.6764	10	0.66056	D	0.02	-24.3209	15.0899	0.72185	0.0:0.0:1.0:0.0	.	991;807;949	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Q	807;949;950	ENSP00000383428:E807Q;ENSP00000383417:E949Q;ENSP00000262608:E950Q	ENSP00000262608:E950Q	E	+	1	0	CECR2	16407888	1.000000	0.71417	0.975000	0.42487	0.026000	0.11368	5.572000	0.67411	2.282000	0.76494	0.462000	0.41574	GAG	CECR2	-	NULL		0.502	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18027888	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	0.991	C
CELA3A	10136	genome.wustl.edu	37	1	22329499	22329499	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22329499C>T	ENST00000290122.3	+	2	66	c.47C>T	c.(46-48)tCa>tTa	p.S16L	CELA3A_ENST00000374663.1_Missense_Mutation_p.S16L|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	16					cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCTAGCCTCAGGCTATGGC	0.597																																																	0													66.0	89.0	81.0					1																	22329499		2195	4298	6493	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.47C>T	1.37:g.22329499C>T	ENSP00000290122:p.Ser16Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ53|Q9BRW4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S16L	ENST00000290122.3	37	c.47	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	C	5.903	0.350623	0.11182	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	D;D	0.92249	-2.33;-3.0	3.32	1.28	0.21552	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.80031	0.4549	N	0.16166	0.38	0.24371	N	0.994836	B	0.06786	0.001	B	0.04013	0.001	T	0.63611	-0.6598	9	0.10902	T	0.67	-0.001	4.2365	0.10628	0.223:0.6488:0.0:0.1282	.	16	P09093	CEL3A_HUMAN	L	16;16;32	ENSP00000290122:S16L;ENSP00000363795:S16L	ENSP00000290122:S16L	S	+	2	0	CELA3A	22202086	0.006000	0.16342	0.216000	0.23742	0.039000	0.13416	-0.021000	0.12504	0.195000	0.20347	0.400000	0.26472	TCA	CELA3A	-	superfamily_Pept_cys/ser_Trypsin-like		0.597	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	C	NM_005747		22329499	+1	no_errors	ENST00000290122	ensembl	human	known	70_37	missense	SNP	0.750	T
CELSR1	9620	genome.wustl.edu	37	22	46760101	46760101	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:46760101C>T	ENST00000262738.3	-	34	8826	c.8827G>A	c.(8827-8829)Gag>Aag	p.E2943K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2943					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGTCTGCTCCGTCAGCGTC	0.662																																																	0													38.0	47.0	44.0					22																	46760101		2201	4296	6497	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8827G>A	22.37:g.46760101C>T	ENSP00000262738:p.Glu2943Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2943K	ENST00000262738.3	37	c.8827	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972869	0.74246	.	.	ENSG00000075275	ENST00000262738	T	0.70516	-0.49	4.85	4.85	0.62838	.	0.119417	0.31601	U	0.007379	T	0.71550	0.3353	M	0.69823	2.125	0.80722	D	1	P	0.50443	0.935	B	0.41666	0.363	T	0.77897	-0.2416	10	0.59425	D	0.04	.	17.569	0.87930	0.0:1.0:0.0:0.0	.	2943	Q9NYQ6	CELR1_HUMAN	K	2943	ENSP00000262738:E2943K	ENSP00000262738:E2943K	E	-	1	0	CELSR1	45138765	1.000000	0.71417	0.369000	0.25952	0.439000	0.31926	5.223000	0.65283	2.211000	0.71520	0.563000	0.77884	GAG	CELSR1	-	NULL		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246		46760101	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	1.000	T
CELSR3	1951	genome.wustl.edu	37	3	48680447	48680447	+	Missense_Mutation	SNP	G	G	C	rs142990854		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:48680447G>C	ENST00000164024.4	-	29	8639	c.8359C>G	c.(8359-8361)Ctg>Gtg	p.L2787V	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2792V|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2787					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCCTGCCCAGACAGGCTGGC	0.632																																																	0								G	VAL/LEU	0,4406		0,0,2203	36.0	39.0	38.0		8359	5.7	1.0	3	dbSNP_134	38	1,8585	1.2+/-3.3	0,1,4292	no	missense	CELSR3	NM_001407.2	32	0,1,6495	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	2787/3313	48680447	1,12991	2203	4293	6496	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8359C>G	3.37:g.48680447G>C	ENSP00000164024:p.Leu2787Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2792V	ENST00000164024.4	37	c.8374	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872049	0.72180	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.38401	1.14;1.14	5.67	5.67	0.87782	.	.	.	.	.	T	0.56920	0.2018	M	0.63428	1.95	0.49798	D	0.999824	D;D;D	0.69078	0.996;0.993;0.997	D;P;D	0.78314	0.928;0.849;0.991	T	0.45891	-0.9230	9	0.21540	T	0.41	.	17.9412	0.89027	0.0:0.0:1.0:0.0	.	2792;2787;2885	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	V	2787;2792	ENSP00000164024:L2787V;ENSP00000445694:L2792V	ENSP00000164024:L2787V	L	-	1	2	CELSR3	48655451	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.038000	0.64177	2.686000	0.91538	0.561000	0.74099	CTG	CELSR3	-	NULL		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48680447	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP112	201134	genome.wustl.edu	37	17	64025251	64025251	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:64025251G>A	ENST00000392769.2	-	14	1711	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	CEP112_ENST00000535342.2_Missense_Mutation_p.S498L|CEP112_ENST00000537949.1_Missense_Mutation_p.S456L|CEP112_ENST00000541355.1_Missense_Mutation_p.S133L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	498					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTAGAAGCTGAAAGAGCATG	0.313																																																	0													162.0	158.0	159.0					17																	64025251		2201	4294	6495	SO:0001583	missense	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1493C>T	17.37:g.64025251G>A	ENSP00000376522:p.Ser498Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.S498L	ENST00000392769.2	37	c.1493	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174795	0.38413	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.55	4.52	0.55395	.	0.306971	0.31221	N	0.008021	T	0.22859	0.0552	L	0.50333	1.59	0.18873	N	0.999982	P;B;P	0.41848	0.763;0.328;0.763	B;B;B	0.39660	0.306;0.053;0.306	T	0.13764	-1.0497	10	0.25106	T	0.35	-2.4076	10.9706	0.47436	0.0:0.139:0.7171:0.1439	.	456;456;498	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	L	498;498;133;456	ENSP00000442784:S498L;ENSP00000376522:S498L;ENSP00000443711:S133L;ENSP00000440775:S456L	ENSP00000376522:S498L	S	-	2	0	CEP112	61455713	1.000000	0.71417	0.975000	0.42487	0.907000	0.53573	4.363000	0.59473	2.768000	0.95171	0.655000	0.94253	TCA	CEP112	-	NULL		0.313	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	G	NM_145036		64025251	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	missense	SNP	0.311	A
CEP135	9662	genome.wustl.edu	37	4	56858218	56858218	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:56858218C>T	ENST00000257287.4	+	15	2100	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	659					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GCTGGTGACTCATCTCATCAG	0.308																																																	0													52.0	59.0	56.0					4																	56858218		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1976C>T	4.37:g.56858218C>T	ENSP00000257287:p.Ser659Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.S659L	ENST00000257287.4	37	c.1976	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927524	0.52759	.	.	ENSG00000174799	ENST00000257287	T	0.54071	0.59	5.18	5.18	0.71444	.	0.269756	0.36628	N	0.002488	T	0.42449	0.1203	L	0.38692	1.165	0.41943	D	0.990622	B	0.28233	0.204	B	0.31101	0.124	T	0.33752	-0.9856	10	0.02654	T	1	.	18.0536	0.89357	0.0:1.0:0.0:0.0	.	659	Q66GS9	CP135_HUMAN	L	659	ENSP00000257287:S659L	ENSP00000257287:S659L	S	+	2	0	CEP135	56552975	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.881000	0.63114	2.567000	0.86603	0.655000	0.94253	TCA	CEP135	-	NULL		0.308	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56858218	+1	no_errors	ENST00000257287	ensembl	human	known	70_37	missense	SNP	1.000	T
CEP152	22995	genome.wustl.edu	37	15	49076266	49076266	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:49076266G>C	ENST00000380950.2	-	10	1412	c.1225C>G	c.(1225-1227)Caa>Gaa	p.Q409E	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.Q316E|CEP152_ENST00000399334.3_Missense_Mutation_p.Q409E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	409					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATTGCTTCTTGATTCCTTTCC	0.368																																																	0													109.0	101.0	104.0					15																	49076266		1867	4085	5952	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1225C>G	15.37:g.49076266G>C	ENSP00000370337:p.Gln409Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.Q409E	ENST00000380950.2	37	c.1225	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305118	0.60305	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77750	-1.12;-1.12;-1.12	5.23	5.23	0.72850	.	0.250630	0.41712	D	0.000838	D	0.85383	0.5684	L	0.57536	1.79	0.31071	N	0.713036	D;P;D	0.61697	0.982;0.879;0.99	D;B;P	0.70227	0.968;0.275;0.789	T	0.82715	-0.0320	10	0.26408	T	0.33	-8.3334	18.3978	0.90504	0.0:0.0:1.0:0.0	.	316;409;409	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	E	409;316;409;409	ENSP00000370337:Q409E;ENSP00000321000:Q316E;ENSP00000382271:Q409E	ENSP00000321000:Q316E	Q	-	1	0	CEP152	46863558	0.998000	0.40836	0.992000	0.48379	0.889000	0.51656	4.039000	0.57325	2.454000	0.82982	0.467000	0.42956	CAA	CEP152	-	NULL		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49076266	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	0.887	C
CEP152	22995	genome.wustl.edu	37	15	49085632	49085632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:49085632G>A	ENST00000380950.2	-	7	905	c.718C>T	c.(718-720)Caa>Taa	p.Q240*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q147*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q240*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	240					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACCTGAAGTTGAATAATCTGC	0.294																																																	0													137.0	125.0	129.0					15																	49085632		1786	4057	5843	SO:0001587	stop_gained	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.718C>T	15.37:g.49085632G>A	ENSP00000370337:p.Gln240*	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	NULL	p.Q240*	ENST00000380950.2	37	c.718	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.352748	0.98231	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.0234	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	240;147;240;240	.	ENSP00000321000:Q147X	Q	-	1	0	CEP152	46872924	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.534000	0.82004	2.861000	0.98227	0.655000	0.94253	CAA	CEP152	-	NULL		0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49085632	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CEP55	55165	genome.wustl.edu	37	10	95262912	95262912	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:95262912C>G	ENST00000371485.3	+	3	530	c.226C>G	c.(226-228)Caa>Gaa	p.Q76E		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	76					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAATGCTTATCAACTCACAGA	0.413																																																	0													97.0	89.0	92.0					10																	95262912		2203	4300	6503	SO:0001583	missense	55165			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.226C>G	10.37:g.95262912C>G	ENSP00000360540:p.Gln76Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	pfam_EABR	p.Q76E	ENST00000371485.3	37	c.226	CCDS7428.1	10	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860394	0.17178	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.18174	2.23	5.28	1.87	0.25490	.	0.476168	0.25458	N	0.030533	T	0.10294	0.0252	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28106	-1.0054	10	0.28530	T	0.3	1.7936	4.2366	0.10628	0.1514:0.5433:0.0:0.3052	.	76	Q53EZ4	CEP55_HUMAN	E	76	ENSP00000360540:Q76E	ENSP00000351102:Q76E	Q	+	1	0	CEP55	95252902	0.001000	0.12720	0.144000	0.22314	0.958000	0.62258	0.316000	0.19469	0.142000	0.18901	0.591000	0.81541	CAA	CEP55	-	NULL		0.413	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1	C	NM_018131		95262912	+1	no_errors	ENST00000371485	ensembl	human	known	70_37	missense	SNP	0.029	G
CETP	1071	genome.wustl.edu	37	16	57017521	57017521	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:57017521G>A	ENST00000566128.1	+	16	1497	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	CETP_ENST00000200676.3_Silent_p.Q475Q|CETP_ENST00000379780.2_Silent_p.Q415Q					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGCTGCTGCAGATGGACTTTG	0.617																																																	0													118.0	111.0	113.0					16																	57017521		2198	4300	6498	SO:0001819	synonymous_variant	1071			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1230G>A	16.37:g.57017521G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.Q475	ENST00000566128.1	37	c.1425		16																																																																																			CETP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer		0.617	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000432305.1	G	NM_000078		57017521	+1	no_errors	ENST00000200676	ensembl	human	known	70_37	silent	SNP	1.000	A
CFI	3426	genome.wustl.edu	37	4	110667465	110667465	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:110667465G>A	ENST00000394634.2	-	11	1549	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C	CFI_ENST00000512148.1_Missense_Mutation_p.R441C|CFI_ENST00000394635.3_Missense_Mutation_p.R456C	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGGATGGAACGAGGCAGCTCA	0.408																																																	0													173.0	151.0	159.0					4																	110667465		2203	4300	6503	SO:0001583	missense	3426			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1342C>T	4.37:g.110667465G>A	ENSP00000378130:p.Arg448Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60442	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R448C	ENST00000394634.2	37	c.1342	CCDS34049.1	4	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062208	0.55432	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88586	-2.4;-2.4;-2.4	5.73	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.155260	0.01518	N	0.018226	D	0.85017	0.5601	L	0.38175	1.15	0.09310	N	1	D;D;D	0.60160	0.984;0.973;0.987	P;B;P	0.54372	0.684;0.275;0.75	T	0.80710	-0.1261	10	0.39692	T	0.17	1.0274	5.8846	0.18874	0.1603:0.1148:0.5514:0.1734	.	456;441;448	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	C	456;448;441	ENSP00000378131:R456C;ENSP00000378130:R448C;ENSP00000427438:R441C	ENSP00000378130:R448C	R	-	1	0	CFI	110886914	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.525000	0.00948	-1.980000	0.00990	-0.318000	0.08688	CGT	CFI	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.408	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		G	NM_000204		110667465	-1	no_errors	ENST00000394634	ensembl	human	known	70_37	missense	SNP	0.000	A
CFP	5199	genome.wustl.edu	37	X	47487588	47487588	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:47487588C>G	ENST00000396992.3	-	3	436	c.316G>C	c.(316-318)Ggc>Cgc	p.G106R	CFP_ENST00000247153.3_Missense_Mutation_p.G106R|CFP_ENST00000480317.1_5'UTR|CFP_ENST00000377005.2_Missense_Mutation_p.G106R	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	106	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCATTCCAGCCCACACAGCGC	0.647																																																	0													55.0	45.0	48.0					X																	47487588		2203	4300	6503	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.316G>C	X.37:g.47487588C>G	ENSP00000380189:p.Gly106Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O15134|O15135|O15136|O75826	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G106R	ENST00000396992.3	37	c.316	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812924	0.50527	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.54279	0.58;0.58;0.58	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.52823	1.66	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69292	-0.5183	10	0.62326	D	0.03	.	14.562	0.68148	0.0:1.0:0.0:0.0	.	42;106	B3KVK6;P27918	.;PROP_HUMAN	R	106	ENSP00000380189:G106R;ENSP00000247153:G106R;ENSP00000366204:G106R	ENSP00000247153:G106R	G	-	1	0	CFP	47372532	0.927000	0.31430	0.389000	0.26208	0.023000	0.10783	2.539000	0.45718	2.517000	0.84864	0.600000	0.82982	GGC	CFP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	C	NM_002621		47487588	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	missense	SNP	0.701	G
NTF4	4909	genome.wustl.edu	37	19	49561977	49561977	+	IGR	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49561977G>T	ENST00000593537.1	-	0	932				NTF4_ENST00000451356.2_Intron|CGB7_ENST00000596965.1_5'Flank|CGB7_ENST00000377280.3_5'Flank|CGB7_ENST00000597853.1_5'UTR|CGB7_ENST00000356213.4_5'UTR|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000593309.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4						adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTGCAGAGATGAAAGACCACG	0.622																																																	0																																										SO:0001628	intergenic_variant	94027				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130			19.37:g.49561977G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FH56	RNA	SNP	-	NULL	ENST00000593537.1	37	NULL	CCDS12754.1	19																																																																																			CGB7	-	-		0.622	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB7	HGNC	protein_coding	OTTHUMT00000466258.1	G	NM_006179		49561977	-1	no_errors	ENST00000598442	ensembl	human	known	70_37	rna	SNP	0.005	T
CHD4	1108	genome.wustl.edu	37	12	6687053	6687053	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6687053C>T	ENST00000357008.2	-	37	5422	c.5259G>A	c.(5257-5259)caG>caA	p.Q1753Q	CHD4_ENST00000309577.6_Silent_p.Q1781Q|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.Q1778Q|CHD4_ENST00000544040.1_Silent_p.Q1746Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1753	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GTGGGTCATTCTGGATGTCTT	0.423																																					Colon(32;586 792 4568 16848 45314)												0													95.0	96.0	96.0					12																	6687053		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5259G>A	12.37:g.6687053C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1781	ENST00000357008.2	37	c.5343	CCDS8552.1	12																																																																																			CHD4	-	pfam_CHD_C2		0.423	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6687053	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	1.000	T
CHD4	1108	genome.wustl.edu	37	12	6711619	6711619	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6711619G>C	ENST00000357008.2	-	3	308	c.145C>G	c.(145-147)Cca>Gca	p.P49A	CHD4_ENST00000309577.6_Missense_Mutation_p.P49A|CHD4_ENST00000544484.1_Missense_Mutation_p.P46A|CHD4_ENST00000544040.1_Missense_Mutation_p.P49A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	49					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TTGAGCTTTGGAGTCTCTGTT	0.423																																					Colon(32;586 792 4568 16848 45314)												0													192.0	193.0	193.0					12																	6711619		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.145C>G	12.37:g.6711619G>C	ENSP00000349508:p.Pro49Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P49A	ENST00000357008.2	37	c.145	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147550	0.77888	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942;ENST00000545584	D;D;D;D;T	0.89810	-2.57;-2.55;-2.53;-2.54;0.91	5.26	5.26	0.73747	.	0.071332	0.56097	D	0.000025	D	0.87180	0.6113	L	0.52573	1.65	0.53005	D	0.999961	B;B;B	0.28636	0.218;0.139;0.218	B;B;B	0.30782	0.12;0.056;0.12	D	0.83688	0.0175	10	0.29301	T	0.29	0.0329	19.2515	0.93926	0.0:0.0:1.0:0.0	.	49;49;49	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	46;49;49;49;30;49;49	ENSP00000440392:P46A;ENSP00000440542:P49A;ENSP00000312419:P49A;ENSP00000349508:P49A;ENSP00000437506:P49A	ENSP00000312419:P49A	P	-	1	0	CHD4	6581880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.463000	0.90377	2.633000	0.89246	0.555000	0.69702	CCA	CHD4	-	NULL		0.423	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		G	NM_001273		6711619	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD9	80205	genome.wustl.edu	37	16	53341657	53341657	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:53341657C>G	ENST00000398510.3	+	32	6932	c.6845C>G	c.(6844-6846)tCa>tGa	p.S2282*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.S2283*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.S2282*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.S2282*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2282					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGTGGCCTTCAGCTAGAAGA	0.418																																																	0													57.0	58.0	58.0					16																	53341657		1921	4127	6048	SO:0001587	stop_gained	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6845C>G	16.37:g.53341657C>G	ENSP00000381522:p.Ser2282*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.S2282*	ENST00000398510.3	37	c.6845		16	.	.	.	.	.	.	.	.	.	.	C	48	14.621257	0.99803	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	.	.	.	5.71	5.71	0.89125	.	0.000000	0.47852	D	0.000209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.8736	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	2283;2282;348	.	ENSP00000381522:S2282X	S	+	2	0	CHD9	51899158	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.457000	0.45005	2.861000	0.98227	0.650000	0.86243	TCA	CHD9	-	NULL		0.418	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	C	NM_025134		53341657	+1	no_errors	ENST00000398510	ensembl	human	known	70_37	nonsense	SNP	1.000	G
C19orf44	84167	genome.wustl.edu	37	19	16630141	16630141	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:16630141G>A	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Silent_p.L871L|CHERP_ENST00000546361.2_Silent_p.L860L|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCTTCGCACCGAGGCCGCCTG	0.637																																																	0													41.0	45.0	44.0					19																	16630141		2071	4210	6281	SO:0001627	intron_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-764G>A	19.37:g.16630141G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6Y7	Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.L860	ENST00000221671.3	37	c.2580	CCDS12345.1	19																																																																																			CHERP	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.637	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1	G	NM_032207		16630141	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	silent	SNP	0.851	A
CHRD	8646	genome.wustl.edu	37	3	184100681	184100681	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184100681C>T	ENST00000204604.1	+	9	1266	c.1020C>T	c.(1018-1020)caC>caT	p.H340H	CHRD_ENST00000450923.1_Silent_p.H340H|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.H340H|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	340	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATTCTACACCAGGGGCAGC	0.572																																																	0													61.0	60.0	60.0					3																	184100681		2203	4300	6503	SO:0001819	synonymous_variant	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1020C>T	3.37:g.184100681C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_CHRD,pfscan_CHRD,pfscan_VWF_C	p.P331S	ENST00000204604.1	37	c.991	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534586	0.27475	.	.	ENSG00000090539	ENST00000342610	.	.	.	4.79	0.842	0.18927	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56733	-0.7930	5	0.87932	D	0	-10.3703	4.0858	0.09947	0.1557:0.5092:0.0:0.3351	.	.	.	.	S	28	.	ENSP00000339396:P28S	P	+	1	0	CHRD	185583375	0.968000	0.33430	0.998000	0.56505	0.982000	0.71751	0.060000	0.14342	0.169000	0.19679	0.563000	0.77884	CCA	CHRD	-	pfscan_CHRD		0.572	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	C	NM_003741		184100681	+1	no_errors	ENST00000420973	ensembl	human	known	70_37	missense	SNP	1.000	T
CHRD	8646	genome.wustl.edu	37	3	184102886	184102886	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184102886G>A	ENST00000204604.1	+	14	1924	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	CHRD_ENST00000450923.1_Missense_Mutation_p.D560N|CHRD_ENST00000545352.1_Missense_Mutation_p.D190N|CHRD_ENST00000348986.3_Missense_Mutation_p.D520N|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	560	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTTCCTTGGATACCCACTG	0.632																																																	0													110.0	111.0	111.0					3																	184102886		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1678G>A	3.37:g.184102886G>A	ENSP00000204604:p.Asp560Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.D560N	ENST00000204604.1	37	c.1678	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.112444	0.94339	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.38	5.38	0.77491	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.998;1.0	D;D;D;D	0.97110	0.974;1.0;0.993;0.996	T	0.63377	-0.6651	10	0.72032	D	0.01	-15.4413	16.9955	0.86366	0.0:0.0:1.0:0.0	.	190;520;560;560	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	N	560;560;520;190;273	ENSP00000204604:D560N;ENSP00000408972:D560N;ENSP00000334036:D520N;ENSP00000442948:D190N	ENSP00000204604:D560N	D	+	1	0	CHRD	185585580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.807000	0.91935	2.701000	0.92244	0.655000	0.94253	GAT	CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD		0.632	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	G	NM_003741		184102886	+1	no_errors	ENST00000204604	ensembl	human	known	70_37	missense	SNP	1.000	A
CHRD	8646	genome.wustl.edu	37	3	184107189	184107189	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184107189G>C	ENST00000204604.1	+	23	3093	c.2847G>C	c.(2845-2847)gaG>gaC	p.E949D	CHRD_ENST00000450923.1_Missense_Mutation_p.E948D|CHRD_ENST00000545352.1_Missense_Mutation_p.E491D|CHRD_ENST00000348986.3_Missense_Mutation_p.E909D|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	949					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGAGCTGGAGAAAGAAGCCG	0.592																																																	0													35.0	35.0	35.0					3																	184107189		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2847G>C	3.37:g.184107189G>C	ENSP00000204604:p.Glu949Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.E949D	ENST00000204604.1	37	c.2847	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	g	13.62	2.291923	0.40594	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.47869	2.64;2.49;2.41;0.83	5.04	3.23	0.37069	.	0.712428	0.13808	N	0.361284	T	0.35393	0.0930	L	0.43152	1.355	0.21386	N	0.999706	B;B;B;B	0.25850	0.01;0.136;0.039;0.084	B;B;B;B	0.29176	0.021;0.099;0.031;0.046	T	0.27706	-1.0066	10	0.07990	T	0.79	-10.2842	8.3057	0.32041	0.19:0.0:0.81:0.0	.	491;909;948;949	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	D	949;948;909;491	ENSP00000204604:E949D;ENSP00000408972:E948D;ENSP00000334036:E909D;ENSP00000442948:E491D	ENSP00000204604:E949D	E	+	3	2	CHRD	185589883	0.995000	0.38212	0.995000	0.50966	0.856000	0.48823	0.027000	0.13621	1.119000	0.41883	0.556000	0.70494	GAG	CHRD	-	pirsf_Chordin		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	G	NM_003741		184107189	+1	no_errors	ENST00000204604	ensembl	human	known	70_37	missense	SNP	1.000	C
CHRFAM7A	89832	genome.wustl.edu	37	15	30665258	30665258	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:30665258C>T	ENST00000299847.2	-	6	704	c.251G>A	c.(250-252)gGa>gAa	p.G84E	CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	84						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GGACCAGCCTCCGTAAGACCA	0.512																																																	0													61.0	56.0	58.0					15																	30665258		2175	4253	6428	SO:0001583	missense	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.251G>A	15.37:g.30665258C>T	ENSP00000299847:p.Gly84Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAB9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.G84E	ENST00000299847.2	37	c.251	CCDS32184.1	15	.	.	.	.	.	.	.	.	.	.	.	14.32	2.501038	0.44455	.	.	ENSG00000166664	ENST00000299847	T	0.77489	-1.1	2.07	2.07	0.26955	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	L	0.49571	1.57	0.80722	D	1	B	0.28636	0.218	B	0.32090	0.14	T	0.73905	-0.3835	10	0.87932	D	0	.	10.2424	0.43321	0.0:1.0:0.0:0.0	.	84	Q494W8	CRFM7_HUMAN	E	84	ENSP00000299847:G84E	ENSP00000299847:G84E	G	-	2	0	CHRFAM7A	28452550	0.004000	0.15560	0.990000	0.47175	0.871000	0.50021	1.293000	0.33353	1.475000	0.48197	0.398000	0.26397	GGA	CHRFAM7A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.512	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	C	NM_148911		30665258	-1	no_errors	ENST00000299847	ensembl	human	known	70_37	missense	SNP	0.991	T
CHRM4	1132	genome.wustl.edu	37	11	46407230	46407230	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:46407230G>C	ENST00000433765.2	-	1	877	c.878C>G	c.(877-879)tCc>tGc	p.S293C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	293					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGACTCATTGGAAGTGTCCTT	0.701																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0													35.0	42.0	40.0					11																	46407230		2101	4211	6312	SO:0001583	missense	1132			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.878C>G	11.37:g.46407230G>C	ENSP00000409378:p.Ser293Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn,prints_Musac_M4_rcpt	p.S293C	ENST00000433765.2	37	c.878	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	g	14.84	2.654841	0.47467	.	.	ENSG00000180720	ENST00000433765	T	0.61274	0.12	4.09	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.71221	0.3314	M	0.80332	2.49	0.51233	D	0.999916	P	0.47253	0.892	P	0.57620	0.824	T	0.73582	-0.3937	9	0.56958	D	0.05	-14.1803	11.5234	0.50565	0.0881:0.0:0.9119:0.0	.	293	P08173	ACM4_HUMAN	C	293	ENSP00000409378:S293C	ENSP00000409378:S293C	S	-	2	0	CHRM4	46363806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.622000	0.98378	0.928000	0.37168	0.457000	0.33378	TCC	CHRM4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M4_rcpt		0.701	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	G	NM_000741		46407230	-1	no_errors	ENST00000433765	ensembl	human	known	70_37	missense	SNP	1.000	C
CIC	23152	genome.wustl.edu	37	19	42791223	42791223	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42791223G>C	ENST00000575354.2	+	3	323	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	CIC_ENST00000572681.2_Missense_Mutation_p.E1004Q|CIC_ENST00000160740.3_Missense_Mutation_p.E95Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	95	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCTGACCCTGAGCGGCCCCC	0.652			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													44.0	54.0	51.0					19																	42791223		2202	4293	6495	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.283G>C	19.37:g.42791223G>C	ENSP00000458663:p.Glu95Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E95Q	ENST00000575354.2	37	c.283	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917673	0.33815	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	T	0.36193	0.0958	N	0.19112	0.55	0.21675	N	0.999597	B	0.17268	0.021	B	0.14578	0.011	T	0.34700	-0.9818	8	0.87932	D	0	-6.1539	14.3509	0.66702	0.0:0.0:1.0:0.0	.	95	Q96RK0	CIC_HUMAN	Q	95	.	ENSP00000160740:E95Q	E	+	1	0	CIC	47483063	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	4.270000	0.58896	2.238000	0.73509	0.485000	0.47835	GAG	CIC	-	NULL		0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42791223	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	C
CILP	8483	genome.wustl.edu	37	15	65495766	65495766	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:65495766C>T	ENST00000261883.4	-	7	1128	c.962G>A	c.(961-963)aGa>aAa	p.R321K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	321	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGCCCAGCTCTCCGTGCTTT	0.498																																																	0													114.0	101.0	105.0					15																	65495766		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.962G>A	15.37:g.65495766C>T	ENSP00000261883:p.Arg321Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R321K	ENST00000261883.4	37	c.962	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213853	0.39102	.	.	ENSG00000138615	ENST00000261883	T	0.13089	2.62	5.24	0.623	0.17654	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127627	0.64402	N	0.000001	T	0.09730	0.0239	L	0.33753	1.03	0.37532	D	0.917979	B	0.14012	0.009	B	0.16289	0.015	T	0.21075	-1.0256	10	0.28530	T	0.3	-17.0733	10.8538	0.46786	0.0:0.6865:0.0:0.3135	.	321	O75339	CILP1_HUMAN	K	321	ENSP00000261883:R321K	ENSP00000261883:R321K	R	-	2	0	CILP	63282819	0.000000	0.05858	0.995000	0.50966	0.977000	0.68977	-0.083000	0.11286	0.220000	0.20860	-0.291000	0.09656	AGA	CILP	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.498	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	C	NM_003613		65495766	-1	no_errors	ENST00000261883	ensembl	human	known	70_37	missense	SNP	0.991	T
CIRH1A	84916	genome.wustl.edu	37	16	69199375	69199375	+	Silent	SNP	G	G	A	rs375859741		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69199375G>A	ENST00000314423.7	+	15	1956	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	CIRH1A_ENST00000563094.1_Silent_p.P593P|CIRH1A_ENST00000352319.4_Silent_p.P478P			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	593					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCAAGAGACCGATGCACATCC	0.458																																					Melanoma(69;1156 1278 4951 8715 52012)												0								G		0,4396		0,0,2198	189.0	146.0	160.0		1779	-2.4	1.0	16		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CIRH1A	NM_032830.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		593/687	69199375	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1779G>A	16.37:g.69199375G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.P593	ENST00000314423.7	37	c.1779	CCDS10872.1	16																																																																																			CIRH1A	-	NULL		0.458	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	G	NM_032830		69199375	+1	no_errors	ENST00000314423	ensembl	human	known	70_37	silent	SNP	0.883	A
CIT	11113	genome.wustl.edu	37	12	120260769	120260769	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120260769C>G	ENST00000261833.7	-	9	1018	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CIT_ENST00000392521.2_Missense_Mutation_p.L322F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGAAATTTCAAAAACCGCT	0.383																																																	0													52.0	53.0	53.0					12																	120260769		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.966G>C	12.37:g.120260769C>G	ENSP00000261833:p.Leu322Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L322F	ENST00000261833.7	37	c.966	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964419	0.34659	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.39787	1.06;1.06	5.86	4.97	0.65823	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	0.64402	D	0.000019	T	0.46171	0.1379	L	0.28608	0.87	0.58432	D	0.999992	P;D	0.71674	0.858;0.998	P;D	0.72338	0.761;0.977	T	0.32745	-0.9895	10	0.10377	T	0.69	.	11.0714	0.48006	0.0:0.8586:0.0:0.1414	.	322;322	Q2M5E1;O14578	.;CTRO_HUMAN	F	322	ENSP00000376306:L322F;ENSP00000261833:L322F	ENSP00000261833:L322F	L	-	3	2	CIT	118745152	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.146000	0.31589	1.483000	0.48342	0.655000	0.94253	TTG	CIT	-	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_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom		0.383	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	C	NM_007174		120260769	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	G
CKAP2	26586	genome.wustl.edu	37	13	53035894	53035894	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:53035894G>C	ENST00000378037.5	+	4	1026	c.936G>C	c.(934-936)aaG>aaC	p.K312N	CKAP2_ENST00000378034.3_Missense_Mutation_p.K311N|CKAP2_ENST00000258607.5_Missense_Mutation_p.K311N|CKAP2_ENST00000490903.1_Missense_Mutation_p.K263N	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TAAGAAATAAGACTCTATCAA	0.383																																																	0													76.0	81.0	79.0					13																	53035894		2203	4300	6503	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.936G>C	13.37:g.53035894G>C	ENSP00000367276:p.Lys312Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.K312N	ENST00000378037.5	37	c.936	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	8.123	0.781401	0.16120	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.27402	2.03;1.67;2.0;2.02	4.89	0.442	0.16582	.	1.561020	0.03205	N	0.175294	T	0.43545	0.1252	M	0.64997	1.995	0.09310	N	1	D;D;P;D	0.53462	0.96;0.96;0.763;0.96	P;P;P;P	0.52856	0.711;0.711;0.463;0.711	T	0.25293	-1.0136	9	.	.	.	-0.1151	6.7859	0.23673	0.5781:0.0:0.4219:0.0	.	263;312;311;312	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	N	312;311;311;312;263	ENSP00000258607:K311N;ENSP00000367273:K311N;ENSP00000367276:K312N;ENSP00000417830:K263N	.	K	+	3	2	CKAP2	51933895	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.100000	0.10990	0.145000	0.18977	-0.808000	0.03180	AAG	CKAP2	-	NULL		0.383	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	G			53035894	+1	no_errors	ENST00000378037	ensembl	human	known	70_37	missense	SNP	0.000	C
CKAP5	9793	genome.wustl.edu	37	11	46806154	46806154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:46806154G>A	ENST00000529230.1	-	17	2084	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	CKAP5_ENST00000312055.5_Nonsense_Mutation_p.Q680*|CKAP5_ENST00000354558.3_Nonsense_Mutation_p.Q680*|CKAP5_ENST00000415402.1_Nonsense_Mutation_p.Q680*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	680					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AATACAACCTGAGCTGACGTT	0.408																																					Ovarian(4;85 273 2202 4844 13323)												0													190.0	182.0	185.0					11																	46806154		2201	4299	6500	SO:0001587	stop_gained	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2038C>T	11.37:g.46806154G>A	ENSP00000432768:p.Gln680*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Nonsense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q680*	ENST00000529230.1	37	c.2038	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.690811	0.98434	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.	.	.	5.48	5.48	0.80851	.	0.582461	0.19690	N	0.108285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-18.2445	12.6613	0.56815	0.0755:0.0:0.9245:0.0	.	.	.	.	X	680	.	ENSP00000310227:Q680X	Q	-	1	0	CKAP5	46762730	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.162000	0.50755	2.570000	0.86706	0.563000	0.77884	CAG	CKAP5	-	superfamily_ARM-type_fold		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46806154	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CKB	1152	genome.wustl.edu	37	14	103986313	103986313	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:103986313G>C	ENST00000348956.2	-	8	1391	c.1034C>G	c.(1033-1035)tCa>tGa	p.S345*		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	345	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CTCCACCTCTGAGAAGCCCAG	0.652																																					Esophageal Squamous(186;2492 2823 49929 50127)												0													45.0	39.0	41.0					14																	103986313		2202	4300	6502	SO:0001587	stop_gained	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.1034C>G	14.37:g.103986313G>C	ENSP00000299198:p.Ser345*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Nonsense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.S345*	ENST00000348956.2	37	c.1034	CCDS9981.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.720997	0.98453	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5297	18.1882	0.89798	0.0:0.0:1.0:0.0	.	.	.	.	X	345;310;143	.	ENSP00000299198:S345X	S	-	2	0	CKB	103056066	1.000000	0.71417	0.982000	0.44146	0.903000	0.53119	7.862000	0.87013	2.286000	0.76751	0.462000	0.41574	TCA	CKB	-	pfam_ATP-guanido_PTrfase_cat		0.652	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKB	HGNC	protein_coding	OTTHUMT00000415111.1	G			103986313	-1	no_errors	ENST00000348956	ensembl	human	known	70_37	nonsense	SNP	1.000	C
CKMT2	1160	genome.wustl.edu	37	5	80559431	80559431	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:80559431C>T	ENST00000424301.2	+	10	1374	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.S379L|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.S379L|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	379	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ATTGGTCGATCAGAGGTAACG	0.453																																																	0													113.0	105.0	108.0					5																	80559431		2203	4300	6503	SO:0001583	missense	1160				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1136C>T	5.37:g.80559431C>T	ENSP00000404203:p.Ser379Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.S379L	ENST00000424301.2	37	c.1136	CCDS4053.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.396439	0.96009	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.15017	2.46;2.46;2.46	5.76	5.76	0.90799	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76898	-0.2789	10	0.87932	D	0	-14.5	19.9625	0.97256	0.0:1.0:0.0:0.0	.	379	P17540	KCRS_HUMAN	L	379	ENSP00000254035:S379L;ENSP00000410289:S379L;ENSP00000404203:S379L	ENSP00000254035:S379L	S	+	2	0	CKMT2	80595187	1.000000	0.71417	0.419000	0.26584	0.949000	0.60115	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCA	CKMT2	-	pfam_ATP-guanido_PTrfase_cat		0.453	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT2	HGNC	protein_coding	OTTHUMT00000369600.1	C	NM_001825		80559431	+1	no_errors	ENST00000254035	ensembl	human	known	70_37	missense	SNP	1.000	T
CLCNKA	1187	genome.wustl.edu	37	1	16355708	16355708	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16355708G>A	ENST00000331433.4	+	12	1160	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CLCNKA_ENST00000375692.1_Missense_Mutation_p.E381K|CLCNKA_ENST00000439316.2_Missense_Mutation_p.E338K|CLCNKA_ENST00000420078.1_Missense_Mutation_p.E381K|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	381					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGGCCCGAGGAGCTCGACCC	0.622																																																	0													79.0	79.0	79.0					1																	16355708		2203	4300	6503	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1141G>A	1.37:g.16355708G>A	ENSP00000332771:p.Glu381Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.E381K	ENST00000331433.4	37	c.1141	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278103	0.59758	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.84873	-1.85;-1.85;-1.91;-1.85	3.2	2.25	0.28309	Chloride channel, core (1);	0.737416	0.13696	N	0.369172	T	0.76550	0.4003	L	0.40543	1.245	0.31269	N	0.691925	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.17979	0.02;0.013;0.013	T	0.68780	-0.5318	10	0.30854	T	0.27	.	6.7437	0.23451	0.1393:0.0:0.8607:0.0	.	338;381;381	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	K	381;381;338;381	ENSP00000364844:E381K;ENSP00000410353:E381K;ENSP00000414445:E338K;ENSP00000332771:E381K	ENSP00000332771:E381K	E	+	1	0	CLCNKA	16228295	0.885000	0.30320	0.101000	0.21167	0.463000	0.32649	3.032000	0.49736	0.648000	0.30732	0.313000	0.20887	GAG	CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.622	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16355708	+1	no_errors	ENST00000331433	ensembl	human	known	70_37	missense	SNP	0.855	A
CLDN12	9069	genome.wustl.edu	37	7	90099218	90099218	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:90099218C>G	ENST00000478752.1	+	0	250				CTB-13L3.1_ENST00000480135.1_RNA			P56749	CLD12_HUMAN	claudin 12						calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CAGGAACAATCAGAAACCAAG	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	9069			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000478752.1:c.*247C>G	7.37:g.90099218C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5Q4|Q7LDZ0	RNA	SNP	-	NULL	ENST00000478752.1	37	NULL		7																																																																																			CLDN12	-	-		0.493	CLDN12-009	PUTATIVE	basic	processed_transcript	CLDN12	HGNC	protein_coding	OTTHUMT00000140209.1	C	NM_012129		90099218	+1	no_errors	ENST00000498033	ensembl	human	known	70_37	rna	SNP	0.000	G
CLDN2	9075	genome.wustl.edu	37	X	106171611	106171611	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:106171611G>C	ENST00000541806.1	+	2	672	c.153G>C	c.(151-153)tgG>tgC	p.W51C	CLDN2_ENST00000336803.1_Missense_Mutation_p.W51C|CLDN2_ENST00000540876.1_Missense_Mutation_p.W51C	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	51					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AGGGCCTCTGGATGGAATGTG	0.567																																																	0													111.0	92.0	98.0					X																	106171611		2203	4300	6503	SO:0001583	missense	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.153G>C	X.37:g.106171611G>C	ENSP00000441283:p.Trp51Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.W51C	ENST00000541806.1	37	c.153	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418670	0.62622	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.98493	-4.96;-4.96;-4.96	5.6	5.6	0.85130	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99081	1.0837	10	0.87932	D	0	.	15.8564	0.78979	0.0:0.0:1.0:0.0	.	51	P57739	CLD2_HUMAN	C	51	ENSP00000441283:W51C;ENSP00000443230:W51C;ENSP00000336571:W51C	ENSP00000336571:W51C	W	+	3	0	CLDN2	106058267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.343000	0.79666	0.594000	0.82650	TGG	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin		0.567	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1	G			106171611	+1	no_errors	ENST00000336803	ensembl	human	known	70_37	missense	SNP	1.000	C
CLDN20	49861	genome.wustl.edu	37	6	155596973	155596973	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:155596973C>T	ENST00000367165.3	+	2	500	c.120C>T	c.(118-120)atC>atT	p.I40I	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	40					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		ACTCCAACATCATAACAGCCA	0.542																																																	0													124.0	108.0	114.0					6																	155596973		2203	4300	6503	SO:0001819	synonymous_variant	49861			BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"""Claudins"""	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.120C>T	6.37:g.155596973C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.I40	ENST00000367165.3	37	c.120	CCDS5249.1	6																																																																																			CLDN20	-	pfam_PMP22/EMP/MP20/Claudin		0.542	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN20	HGNC	protein_coding	OTTHUMT00000042818.1	C	NM_001001346		155596973	+1	no_errors	ENST00000367165	ensembl	human	known	70_37	silent	SNP	1.000	T
CLEC4G	339390	genome.wustl.edu	37	19	7794814	7794814	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:7794814G>A	ENST00000328853.5	-	8	704	c.636C>T	c.(634-636)ctC>ctT	p.L212L	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	212	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TGTTCCGAGTGAGGAAGCCCT	0.672																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												0													47.0	45.0	46.0					19																	7794814		2203	4300	6503	SO:0001819	synonymous_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.636C>T	19.37:g.7794814G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L212	ENST00000328853.5	37	c.636	CCDS12185.1	19																																																																																			CLEC4G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.672	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1	G	NM_198492		7794814	-1	no_errors	ENST00000328853	ensembl	human	known	70_37	silent	SNP	0.275	A
CLEC17A	388512	genome.wustl.edu	37	19	14703128	14703128	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:14703128G>C	ENST00000417570.1	+	4	273	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	CLEC17A_ENST00000397439.2_Intron|CLEC17A_ENST00000547437.1_Missense_Mutation_p.E79Q	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	79						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E79K(1)									TGATGACTATGAGAACTCAAC	0.562																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.235G>C	19.37:g.14703128G>C	ENSP00000393719:p.Glu79Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E79Q	ENST00000417570.1	37	c.235	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	g	7.582	0.668851	0.14776	.	.	ENSG00000187912	ENST00000547437;ENST00000417570	T;T	0.63096	-0.02;-0.02	1.2	1.2	0.21068	.	.	.	.	.	T	0.56411	0.1983	N	0.14661	0.345	0.20926	N	0.99983	D;D;D	0.60575	0.988;0.988;0.98	D;D;P	0.65140	0.932;0.932;0.857	T	0.43163	-0.9408	9	0.38643	T	0.18	.	5.7576	0.18182	0.0:0.0:1.0:0.0	.	79;79;79	Q6ZS10-2;Q6ZS10-3;Q6ZS10	.;.;CL17A_HUMAN	Q	79	ENSP00000450065:E79Q;ENSP00000393719:E79Q	ENSP00000341620:E79Q	E	+	1	0	CLEC17A	14564128	0.999000	0.42202	0.094000	0.20943	0.149000	0.21700	3.238000	0.51352	0.946000	0.37632	0.297000	0.19635	GAG	CLEC17A	-	NULL		0.562	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	G	NM_207390		14703128	+1	no_errors	ENST00000417570	ensembl	human	known	70_37	missense	SNP	0.158	C
CLIP1	6249	genome.wustl.edu	37	12	122763443	122763443	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:122763443G>C	ENST00000540338.1	-	22	3853	c.3812C>G	c.(3811-3813)tCa>tGa	p.S1271*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S1149*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S1260*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.S1260*|CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S846*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S1225*|CLIP1_ENST00000536634.1_5'UTR			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1271					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGAACAACTGAATGCAAGGA	0.493																																																	0													71.0	65.0	67.0					12																	122763443		2203	4300	6503	SO:0001587	stop_gained	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3812C>G	12.37:g.122763443G>C	ENSP00000439093:p.Ser1271*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S1271*	ENST00000540338.1	37	c.3812	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.851717	0.99477	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	6.17	6.17	0.99709	.	0.252183	0.33438	N	0.004901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-3.136	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	846;1260;1260;990;302;1225;1271	.	ENSP00000303585:S1260X	S	-	2	0	CLIP1	121329396	0.997000	0.39634	0.760000	0.31359	0.998000	0.95712	3.364000	0.52328	2.941000	0.99782	0.655000	0.94253	TCA	CLIP1	-	NULL		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	G	NM_002956		122763443	-1	no_errors	ENST00000540338	ensembl	human	known	70_37	nonsense	SNP	0.695	C
CLK2	1196	genome.wustl.edu	37	1	155239463	155239463	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155239463C>T	ENST00000368361.4	-	3	530	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	CLK2_ENST00000536801.1_Missense_Mutation_p.R72Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R72Q|CLK2_ENST00000355560.4_Missense_Mutation_p.R71Q|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	72					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCACAGTATCGCCGGTCATA	0.488								Other conserved DNA damage response genes																																									0													137.0	123.0	128.0					1																	155239463		2203	4300	6503	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.215G>A	1.37:g.155239463C>T	ENSP00000357345:p.Arg72Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R72Q	ENST00000368361.4	37	c.215		1	.	.	.	.	.	.	.	.	.	.	.	16.27	3.076571	0.55753	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.55234	0.54;0.53;0.54;0.53	4.91	4.0	0.46444	.	0.118034	0.56097	N	0.000032	T	0.36220	0.0959	M	0.66297	2.02	0.42842	D	0.994057	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.46470	-0.9189	10	0.72032	D	0.01	.	12.1412	0.53998	0.0:0.9163:0.0:0.0837	.	72;72	P49760;P49760-3	CLK2_HUMAN;.	Q	72;72;71;72	ENSP00000354856:R72Q;ENSP00000357345:R72Q;ENSP00000347759:R71Q;ENSP00000441023:R72Q	ENSP00000347759:R71Q	R	-	2	0	CLK2	153506087	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	5.622000	0.67750	1.311000	0.45024	-0.145000	0.13849	CGA	CLK2	-	NULL		0.488	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993		155239463	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	missense	SNP	0.996	T
CLSTN2	64084	genome.wustl.edu	37	3	140281106	140281106	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:140281106G>C	ENST00000458420.3	+	13	2358	c.2168G>C	c.(2167-2169)cGa>cCa	p.R723P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	723					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTCCACCAACGACACCTGGAT	0.517										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													110.0	103.0	105.0					3																	140281106		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2168G>C	3.37:g.140281106G>C	ENSP00000402460:p.Arg723Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R723P	ENST00000458420.3	37	c.2168	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204627	0.79127	.	.	ENSG00000158258	ENST00000458420	T	0.32272	1.46	5.82	4.01	0.46588	.	0.155187	0.56097	D	0.000035	T	0.27559	0.0677	L	0.54323	1.7	0.33661	D	0.609647	P	0.48162	0.906	B	0.42462	0.388	T	0.43909	-0.9362	9	.	.	.	-1.5336	7.2617	0.26207	0.2524:0.0:0.7476:0.0	.	723	Q9H4D0	CSTN2_HUMAN	P	723	ENSP00000402460:R723P	.	R	+	2	0	CLSTN2	141763796	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.626000	0.46460	1.462000	0.47948	0.655000	0.94253	CGA	CLSTN2	-	NULL		0.517	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	G	NM_022131		140281106	+1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	1.000	C
CLUAP1	23059	genome.wustl.edu	37	16	3569995	3569995	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3569995G>A	ENST00000576634.1	+	7	816	c.672G>A	c.(670-672)ctG>ctA	p.L224L	CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000571025.1_Silent_p.L224L|CLUAP1_ENST00000341633.5_Silent_p.L224L|CLUAP1_ENST00000572600.1_Silent_p.L58L|CLUAP1_ENST00000417763.2_Silent_p.L58L	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	224					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AATTAGAACTGGAAAGAAATC	0.388																																																	0													94.0	96.0	96.0					16																	3569995		2197	4300	6497	SO:0001819	synonymous_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.672G>A	16.37:g.3569995G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	pfam_Clusterin-associated_protein-1,superfamily_CH-domain	p.L224	ENST00000576634.1	37	c.672	CCDS32381.1	16																																																																																			CLUAP1	-	pfam_Clusterin-associated_protein-1		0.388	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUAP1	HGNC	protein_coding	OTTHUMT00000437883.2	G	NM_024793		3569995	+1	no_errors	ENST00000576634	ensembl	human	known	70_37	silent	SNP	1.000	A
CLVS2	134829	genome.wustl.edu	37	6	123376999	123376999	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:123376999C>A	ENST00000275162.5	+	5	2059	c.724C>A	c.(724-726)Cct>Act	p.P242T	CLVS2_ENST00000368438.1_Missense_Mutation_p.P96T	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTAATTCATCCTGAGATCCT	0.443																																																	0													185.0	158.0	167.0					6																	123376999		2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.724C>A	6.37:g.123376999C>A	ENSP00000275162:p.Pro242Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P242T	ENST00000275162.5	37	c.724	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	17.69	3.453059	0.63290	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.76448	-1.02;-1.02	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	L	0.57536	1.79	0.80722	D	1	B	0.29232	0.238	B	0.38225	0.268	T	0.71059	-0.4702	10	0.38643	T	0.18	-12.8029	20.2983	0.98569	0.0:1.0:0.0:0.0	.	242	Q5SYC1	CLVS2_HUMAN	T	242;96	ENSP00000275162:P242T;ENSP00000357423:P96T	ENSP00000275162:P242T	P	+	1	0	CLVS2	123418698	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.443	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123376999	+1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	1.000	A
CMTM1	113540	genome.wustl.edu	37	16	66612745	66612745	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:66612745C>T	ENST00000457188.2	+	4	472	c.351C>T	c.(349-351)ctC>ctT	p.L117L	CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000336328.6_Silent_p.L64L|CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000328020.6_Intron|CKLF-CMTM1_ENST00000527729.1_Silent_p.L63L|CMTM1_ENST00000529506.1_Silent_p.L18L|CMTM1_ENST00000332695.7_Silent_p.L70L|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000379500.2_Silent_p.L234L|CMTM1_ENST00000533953.1_Silent_p.L186L	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	117	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCCTGTGTCTCACAGCGGTAA	0.488																																																	0													174.0	143.0	153.0					16																	66612745		2201	4300	6501	SO:0001819	synonymous_variant	113540			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.351C>T	16.37:g.66612745C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	NULL	p.L70	ENST00000457188.2	37	c.210	CCDS45503.1	16																																																																																			CMTM1	-	NULL		0.488	CMTM1-015	NOVEL	basic|CCDS	protein_coding	CMTM1	HGNC	protein_coding	OTTHUMT00000390261.2	C	NM_052999		66612745	+1	no_errors	ENST00000332695	ensembl	human	known	70_37	silent	SNP	0.893	T
CMYA5	202333	genome.wustl.edu	37	5	79027767	79027767	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:79027767C>T	ENST00000446378.2	+	2	3210	c.3179C>T	c.(3178-3180)tCa>tTa	p.S1060L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1060					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S1060L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGTTCAGTTCATCACAGAAG	0.428																																																	2	Substitution - Missense(2)	urinary_tract(2)											45.0	42.0	43.0					5																	79027767		1898	4130	6028	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3179C>T	5.37:g.79027767C>T	ENSP00000394770:p.Ser1060Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1060L	ENST00000446378.2	37	c.3179	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817048	0.32145	.	.	ENSG00000164309	ENST00000446378	T	0.39997	1.05	5.28	3.37	0.38596	.	0.345430	0.21306	N	0.076731	T	0.36991	0.0987	M	0.65975	2.015	0.09310	N	1	P	0.34864	0.473	B	0.31390	0.129	T	0.29671	-1.0004	10	0.44086	T	0.13	.	8.3362	0.32217	0.0:0.7359:0.0:0.2641	.	1060	Q8N3K9	CMYA5_HUMAN	L	1060	ENSP00000394770:S1060L	ENSP00000394770:S1060L	S	+	2	0	CMYA5	79063523	0.001000	0.12720	0.142000	0.22268	0.955000	0.61496	0.101000	0.15251	1.364000	0.46038	0.655000	0.94253	TCA	CMYA5	-	NULL		0.428	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79027767	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.042	T
CNBD2	140894	genome.wustl.edu	37	20	34599162	34599162	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:34599162G>C	ENST00000373973.3	+	10	1425	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	CNBD2_ENST00000538900.1_Missense_Mutation_p.E418Q|CNBD2_ENST00000349339.1_Missense_Mutation_p.E418Q			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	418																	GCACACTGTGGAGCAGGGAGA	0.498																																																	0													83.0	76.0	78.0					20																	34599162		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1252G>C	20.37:g.34599162G>C	ENSP00000363084:p.Glu418Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E418Q	ENST00000373973.3	37	c.1252		20	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573103	0.28092	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.42900	0.96;0.96;2.61	4.83	4.83	0.62350	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.445225	0.21729	N	0.069990	T	0.44008	0.1273	M	0.69823	2.125	0.33008	D	0.527081	B;P	0.34462	0.325;0.454	B;B	0.33890	0.083;0.172	T	0.61589	-0.7032	10	0.56958	D	0.05	-29.9759	13.6212	0.62138	0.0:0.0:1.0:0.0	.	418;418	Q96M20;Q96M20-2	CT152_HUMAN;.	Q	418	ENSP00000363084:E418Q;ENSP00000340954:E418Q;ENSP00000442729:E418Q	ENSP00000340954:E418Q	E	+	1	0	C20orf152	34062576	1.000000	0.71417	0.998000	0.56505	0.349000	0.29174	1.543000	0.36147	2.673000	0.90976	0.655000	0.94253	GAG	CNBD2	-	superfamily_cNMP-bd-like		0.498	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34599162	+1	no_errors	ENST00000373973	ensembl	human	known	70_37	missense	SNP	1.000	C
CNGA3	1261	genome.wustl.edu	37	2	98996712	98996712	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98996712C>G	ENST00000272602.2	+	3	329	c.290C>G	c.(289-291)tCt>tGt	p.S97C	CNGA3_ENST00000393504.1_Missense_Mutation_p.S97C|CNGA3_ENST00000436404.2_Missense_Mutation_p.S97C|CNGA3_ENST00000409937.1_Missense_Mutation_p.S101C			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	97					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGACCGGACTCTTTTCCTGAT	0.607																																																	0													75.0	71.0	72.0					2																	98996712		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.290C>G	2.37:g.98996712C>G	ENSP00000272602:p.Ser97Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S97C	ENST00000272602.2	37	c.290	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988106	0.53934	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.28	5.28	0.74379	.	0.408403	0.26903	N	0.021920	T	0.74382	0.3709	M	0.77313	2.365	0.35835	D	0.825627	D;D;D	0.76494	0.977;0.989;0.999	P;P;P	0.62014	0.717;0.815;0.897	T	0.81998	-0.0675	10	0.87932	D	0	.	15.9324	0.79675	0.0:1.0:0.0:0.0	.	101;97;97	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	C	97;97;97;101	ENSP00000377140:S97C;ENSP00000410070:S97C;ENSP00000272602:S97C;ENSP00000386761:S101C	ENSP00000272602:S97C	S	+	2	0	CNGA3	98363144	1.000000	0.71417	0.948000	0.38648	0.003000	0.03518	5.406000	0.66357	2.755000	0.94549	0.655000	0.94253	TCT	CNGA3	-	NULL		0.607	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	C	NM_001298		98996712	+1	no_errors	ENST00000272602	ensembl	human	known	70_37	missense	SNP	1.000	G
CNOT3	4849	genome.wustl.edu	37	19	54647772	54647772	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:54647772G>A	ENST00000406403.1	+	5	1892	c.289G>A	c.(289-291)Gag>Aag	p.E97K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E97K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	97					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGTGGAACGAGAGACCAAAAC	0.557																																																	0													87.0	85.0	86.0					19																	54647772		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.289G>A	19.37:g.54647772G>A	ENSP00000383954:p.Glu97Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E97K	ENST00000406403.1	37	c.289	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.409072	0.96072	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.54279	0.58;0.58	5.28	5.28	0.74379	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.81802	2.56	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.992;0.996	T	0.78130	-0.2324	10	0.72032	D	0.01	-37.8367	18.0727	0.89415	0.0:0.0:1.0:0.0	.	97;97;21	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	K	97	ENSP00000221232:E97K;ENSP00000383954:E97K	ENSP00000221232:E97K	E	+	1	0	CNOT3	59339584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.153000	0.94687	2.641000	0.89580	0.655000	0.94253	GAG	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	G	NM_014516		54647772	+1	no_errors	ENST00000221232	ensembl	human	known	70_37	missense	SNP	1.000	A
CNOT6L	246175	genome.wustl.edu	37	4	78663337	78663337	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:78663337C>G	ENST00000504123.1	-	8	960	c.830G>C	c.(829-831)aGa>aCa	p.R277T	CNOT6L_ENST00000506166.1_5'Flank|CNOT6L_ENST00000264903.4_Missense_Mutation_p.R277T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	277	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TACATGCTTTCTCTCCTGCTC	0.368																																																	0													73.0	67.0	69.0					4																	78663337		1919	4145	6064	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.830G>C	4.37:g.78663337C>G	ENSP00000424896:p.Arg277Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.R277T	ENST00000504123.1	37	c.830		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382220|4.382220	0.82792|0.82792	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T|T;T;T;T	0.27256|0.46063	1.68|1.49;1.49;1.63;0.88	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Endonuclease/exonuclease/phosphatase (2);	.|0.083789	.|0.85682	.|D	.|0.000000	T|T	0.56470|0.56470	0.1987|0.1987	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;B	.|0.58620	.|0.983;0.433	.|P;P	.|0.55749	.|0.783;0.456	T|T	0.59841|0.59841	-0.7378|-0.7378	7|10	0.20519|0.72032	T|D	0.43|0.01	-1.9082|-1.9082	10.7375|10.7375	0.46133|0.46133	0.0:0.8567:0.0:0.1433|0.0:0.8567:0.0:0.1433	.|.	.|250;277	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|T	305|277;277;284;52	ENSP00000423750:E305D|ENSP00000424896:R277T;ENSP00000264903:R277T;ENSP00000425571:R284T;ENSP00000426320:R52T	ENSP00000423750:E305D|ENSP00000264903:R277T	E|R	-|-	3|2	2|0	CNOT6L|CNOT6L	78882361|78882361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.179000|3.179000	0.50887|0.50887	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|AGA	CNOT6L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.368	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	C			78663337	-1	no_errors	ENST00000264903	ensembl	human	known	70_37	missense	SNP	1.000	G
CNTN6	27255	genome.wustl.edu	37	3	1369193	1369193	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:1369193C>T	ENST00000446702.2	+	10	1763	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	CNTN6_ENST00000350110.2_Missense_Mutation_p.S379L|CNTN6_ENST00000539053.1_Missense_Mutation_p.S307L			Q9UQ52	CNTN6_HUMAN	contactin 6	379	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAATGTGTCAGATTCTGGT	0.333																																																	0													110.0	107.0	108.0					3																	1369193		2203	4298	6501	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1136C>T	3.37:g.1369193C>T	ENSP00000407822:p.Ser379Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S379L	ENST00000446702.2	37	c.1136	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479689	0.63849	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.83250	-1.7;-1.7;-1.7	5.13	5.13	0.70059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000187	D	0.89199	0.6647	L	0.53671	1.685	0.53688	D	0.999971	D	0.89917	1.0	D	0.87578	0.998	D	0.89741	0.3933	10	0.62326	D	0.03	.	17.138	0.86745	0.0:1.0:0.0:0.0	.	379	Q9UQ52	CNTN6_HUMAN	L	379;307;379	ENSP00000407822:S379L;ENSP00000442791:S307L;ENSP00000341882:S379L	ENSP00000341882:S379L	S	+	2	0	CNTN6	1344193	0.996000	0.38824	0.665000	0.29768	0.962000	0.63368	4.259000	0.58828	2.537000	0.85549	0.555000	0.69702	TCA	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	C	NM_014461		1369193	+1	no_errors	ENST00000350110	ensembl	human	known	70_37	missense	SNP	0.982	T
CNTNAP1	8506	genome.wustl.edu	37	17	40849680	40849680	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:40849680G>A	ENST00000264638.4	+	22	3894	c.3677G>A	c.(3676-3678)cGa>cAa	p.R1226Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1226	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACCCACTTCCGAACCCCTCGA	0.557																																																	0													126.0	115.0	119.0					17																	40849680		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3677G>A	17.37:g.40849680G>A	ENSP00000264638:p.Arg1226Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R1226Q	ENST00000264638.4	37	c.3677	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977383	0.74360	.	.	ENSG00000108797	ENST00000264638	D	0.90197	-2.63	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.53938	D	0.000059	D	0.85682	0.5753	L	0.45051	1.395	0.33453	D	0.583988	D	0.53745	0.962	B	0.42555	0.391	D	0.87344	0.2333	10	0.28530	T	0.3	.	9.9915	0.41874	0.1528:0.0:0.8472:0.0	.	1226	P78357	CNTP1_HUMAN	Q	1226	ENSP00000264638:R1226Q	ENSP00000264638:R1226Q	R	+	2	0	CNTNAP1	38103206	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.107000	0.77047	2.564000	0.86499	0.650000	0.86243	CGA	CNTNAP1	-	pfscan_Laminin_G		0.557	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40849680	+1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	0.998	A
CNTNAP2	26047	genome.wustl.edu	37	7	146825844	146825844	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:146825844C>G	ENST00000361727.3	+	7	1515	c.999C>G	c.(997-999)ttC>ttG	p.F333L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	333	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAAGAATTTCAAAGGCTGCA	0.413										HNSCC(39;0.1)																																							0													104.0	108.0	106.0					7																	146825844		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.999C>G	7.37:g.146825844C>G	ENSP00000354778:p.Phe333Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F333L	ENST00000361727.3	37	c.999	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814646	0.70912	.	.	ENSG00000174469	ENST00000361727	D	0.89196	-2.48	5.84	0.884	0.19182	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000003	D	0.89976	0.6871	M	0.75085	2.285	0.80722	D	1	P	0.42123	0.771	P	0.48840	0.592	D	0.88172	0.2865	10	0.66056	D	0.02	.	10.8838	0.46955	0.0:0.7157:0.0:0.2843	.	333	Q9UHC6	CNTP2_HUMAN	L	333	ENSP00000354778:F333L	ENSP00000354778:F333L	F	+	3	2	CNTNAP2	146456777	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	1.554000	0.36266	0.103000	0.17682	0.655000	0.94253	TTC	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146825844	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	G
CNTNAP4	85445	genome.wustl.edu	37	16	76572100	76572100	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:76572100C>A	ENST00000476707.1	+	18	3231	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A979D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A955D|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A1027D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1028					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGCTCCCACGCTGCTTCATTT	0.363																																																	0													59.0	56.0	57.0					16																	76572100		1823	4088	5911	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3092C>A	16.37:g.76572100C>A	ENSP00000417628:p.Ala1031Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A1027D	ENST00000476707.1	37	c.3080		16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559271	0.86335	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.172724	0.27604	N	0.018637	T	0.63046	0.2478	.	.	.	0.46609	D	0.999121	P;D;D	0.58620	0.913;0.957;0.983	P;P;P	0.61800	0.638;0.71;0.894	T	0.62676	-0.6804	9	0.51188	T	0.08	.	19.2614	0.93970	0.0:1.0:0.0:0.0	.	955;1031;1028	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	1027;979;955;1031	ENSP00000306893:A1027D;ENSP00000439733:A979D;ENSP00000418741:A955D;ENSP00000417628:A1031D	ENSP00000306893:A1027D	A	+	2	0	CNTNAP4	75129601	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.120000	0.64685	2.769000	0.95229	0.655000	0.94253	GCT	CNTNAP4	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	C	NM_033401		76572100	+1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125175029	125175029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:125175029delG	ENST00000431078.1	+	4	755	c.391delG	c.(391-393)ggafs	p.G131fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	131	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACCTTTGCAGGAAACATGAA	0.488																																																	0													78.0	77.0	77.0					2																	125175029		1994	4189	6183	SO:0001589	frameshift_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.391delG	2.37:g.125175029delG	ENSP00000399013:p.Gly131fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G131fs	ENST00000431078.1	37	c.391	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	G			125175029	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
CNTRL	11064	genome.wustl.edu	37	9	123888128	123888128	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:123888128G>A	ENST00000373855.1	+	14	2199	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	CNTRL_ENST00000238341.5_Missense_Mutation_p.E647K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E95K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E95K			Q7Z7A1	CNTRL_HUMAN	centriolin	647					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGATGAGAAAGAGACATTGTT	0.463																																																	0													112.0	118.0	116.0					9																	123888128		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1939G>A	9.37:g.123888128G>A	ENSP00000362962:p.Glu647Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E647K	ENST00000373855.1	37	c.1939	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953502	0.92660	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.37915	1.51;1.51;1.17;1.23	5.96	5.96	0.96718	.	.	.	.	.	T	0.51770	0.1694	L	0.34521	1.04	0.47778	D	0.999516	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.98;0.977	T	0.42716	-0.9435	9	0.46703	T	0.11	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	647;647;647	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	K	647;647;647;129;95;95	ENSP00000362962:E647K;ENSP00000238341:E647K;ENSP00000362956:E95K;ENSP00000362953:E95K	ENSP00000238341:E647K	E	+	1	0	CNTRL	122927949	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.842000	0.86851	2.831000	0.97527	0.650000	0.86243	GAG	CNTRL	-	NULL		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123888128	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTRL	11064	genome.wustl.edu	37	9	123888142	123888142	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:123888142G>A	ENST00000373855.1	+	14	2213	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	CNTRL_ENST00000238341.5_Silent_p.Q651Q|CNTRL_ENST00000373847.1_Silent_p.Q99Q|CNTRL_ENST00000373850.1_Silent_p.Q99Q			Q7Z7A1	CNTRL_HUMAN	centriolin	651					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CATTGTTGCAGAGATTGACAG	0.478																																																	0													106.0	113.0	110.0					9																	123888142		2203	4300	6503	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1953G>A	9.37:g.123888142G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.Q651	ENST00000373855.1	37	c.1953	CCDS35118.1	9																																																																																			CNTRL	-	NULL		0.478	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123888142	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	silent	SNP	0.960	A
COG8	84342	genome.wustl.edu	37	16	69354271	69354271	+	5'UTR	SNP	G	G	C	rs573064550		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69354271G>C	ENST00000564419.1	-	0	707				VPS4A_ENST00000254950.11_Intron|RP11-343C2.11_ENST00000570054.2_Intron			Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8						protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCTGCGGCTGGATTTGGTTGT	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	84342			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000564419.1:c.-229C>G	16.37:g.69354271G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAK2|Q8WVV6|Q9H6F8	RNA	SNP	-	NULL	ENST00000564419.1	37	NULL		16																																																																																			COG8	-	-		0.612	COG8-005	PUTATIVE	basic	processed_transcript	COG8	HGNC	protein_coding	OTTHUMT00000430567.1	G	NM_032382		69354271	-1	no_errors	ENST00000564419	ensembl	human	putative	70_37	rna	SNP	0.000	C
COIL	8161	genome.wustl.edu	37	17	55027347	55027347	+	Missense_Mutation	SNP	C	C	T	rs138873632	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:55027347C>T	ENST00000240316.4	-	2	1290	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	419	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AGGATGCCCTCGTCCTCGACC	0.473																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	89.0	87.0		1256	5.0	1.0	17	dbSNP_134	87	5,8595	4.3+/-15.6	0,5,4295	no	missense	COIL	NM_004645.2	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	419/577	55027347	6,13000	2203	4300	6503	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1256G>A	17.37:g.55027347C>T	ENSP00000240316:p.Arg419Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R931	Missense_Mutation	SNP	NULL	p.R419Q	ENST00000240316.4	37	c.1256	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644885	0.67358	2.27E-4	5.81E-4	ENSG00000121058	ENST00000240316	.	.	.	5.95	4.97	0.65823	.	0.242908	0.39759	N	0.001266	T	0.76428	0.3986	M	0.71581	2.175	0.40417	D	0.979807	D	0.89917	1.0	D	0.70487	0.969	T	0.78597	-0.2142	9	0.66056	D	0.02	-9.3764	13.7535	0.62921	0.0:0.9281:0.0:0.0719	.	419	P38432	COIL_HUMAN	Q	419	.	ENSP00000240316:R419Q	R	-	2	0	COIL	52382346	0.944000	0.32072	0.997000	0.53966	0.172000	0.22775	2.967000	0.49216	2.817000	0.96982	0.563000	0.77884	CGA	COIL	-	NULL		0.473	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	C			55027347	-1	no_errors	ENST00000240316	ensembl	human	known	70_37	missense	SNP	0.983	T
COL11A1	1301	genome.wustl.edu	37	1	103474021	103474021	+	Nonsense_Mutation	SNP	G	G	A	rs377107722		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:103474021G>A	ENST00000370096.3	-	15	1993	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q522*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q573*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q445*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	561	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTTACCTGAGGACCTGGA	0.363																																																	0								G	stop/GLN,stop/GLN,stop/GLN,stop/GLN	0,4402		0,0,2201	42.0	50.0	47.0		1564,1681,1717,1333	5.6	1.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,,	522/1768,561/1807,573/1819,445/1691	103474021	1,13001	2201	4300	6501	SO:0001587	stop_gained	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1681C>T	1.37:g.103474021G>A	ENSP00000359114:p.Gln561*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.Q573*	ENST00000370096.3	37	c.1717	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.722809	0.98929	0.0	1.16E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.58	5.58	0.84498	.	0.116455	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.5574	0.95357	0.0:0.0:1.0:0.0	.	.	.	.	X	561;573;522;445	.	ENSP00000302551:Q522X	Q	-	1	0	COL11A1	103246609	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.190000	0.94934	2.623000	0.88846	0.655000	0.94253	CAG	COL11A1	-	pfam_Collagen		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103474021	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103474059	103474059	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:103474059G>A	ENST00000370096.3	-	15	1955	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000353414.4_Missense_Mutation_p.S509L|COL11A1_ENST00000358392.2_Missense_Mutation_p.S560L|COL11A1_ENST00000512756.1_Missense_Mutation_p.S432L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	548	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCCCCAGATGAACCAGGCCC	0.373																																																	0													55.0	65.0	61.0					1																	103474059		2202	4300	6502	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1643C>T	1.37:g.103474059G>A	ENSP00000359114:p.Ser548Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S560L	ENST00000370096.3	37	c.1679	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586046	0.28268	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.92545	-2.99;-2.99;-2.99;-3.06;-2.06	5.58	4.66	0.58398	.	0.541671	0.19449	N	0.113969	T	0.72350	0.3449	N	0.16833	0.445	0.28586	N	0.909907	B;B;B;B	0.27416	0.095;0.078;0.178;0.095	B;B;B;B	0.26202	0.067;0.04;0.058;0.067	T	0.60214	-0.7307	10	0.17369	T	0.5	.	10.9892	0.47539	0.0706:0.1294:0.8:0.0	.	432;509;560;548	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	548;560;509;432;560	ENSP00000359114:S548L;ENSP00000351163:S560L;ENSP00000302551:S509L;ENSP00000426533:S432L;ENSP00000408640:S560L	ENSP00000302551:S509L	S	-	2	0	COL11A1	103246647	0.270000	0.24152	0.981000	0.43875	0.867000	0.49689	2.714000	0.47202	1.346000	0.45694	0.655000	0.94253	TCA	COL11A1	-	pfam_Collagen		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103474059	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	0.865	A
COL17A1	1308	genome.wustl.edu	37	10	105815742	105815742	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:105815742C>T	ENST00000353479.5	-	18	1775	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	COL17A1_ENST00000369733.3_Silent_p.L495L|COL17A1_ENST00000480127.1_5'Flank	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	495	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACGCGCCTTCAGCTTCCTCA	0.582																																																	0													123.0	97.0	106.0					10																	105815742		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1485G>A	10.37:g.105815742C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L495	ENST00000353479.5	37	c.1485	CCDS7554.1	10																																																																																			COL17A1	-	NULL		0.582	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105815742	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	silent	SNP	1.000	T
COL17A1	1308	genome.wustl.edu	37	10	105817941	105817941	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:105817941C>G	ENST00000353479.5	-	16	1520	c.1230G>C	c.(1228-1230)ctG>ctC	p.L410L	COL17A1_ENST00000369733.3_Silent_p.L410L|COL17A1_ENST00000480127.1_5'Flank	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	410	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACACAGTCTTCAGGTCTCCTG	0.498																																																	0													109.0	87.0	95.0					10																	105817941		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1230G>C	10.37:g.105817941C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L410	ENST00000353479.5	37	c.1230	CCDS7554.1	10																																																																																			COL17A1	-	NULL		0.498	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105817941	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	silent	SNP	0.261	G
COL20A1	57642	genome.wustl.edu	37	20	61943400	61943400	+	Missense_Mutation	SNP	C	C	T	rs45465106		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:61943400C>T	ENST00000358894.6	+	14	1896	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	COL20A1_ENST00000326996.6_Missense_Mutation_p.S599L|COL20A1_ENST00000435874.1_Missense_Mutation_p.S606L|COL20A1_ENST00000422202.1_Missense_Mutation_p.S606L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	599	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGGACACTCGGGGCAGGTG	0.662																																																	0								C	LEU/SER	1,3871		0,1,1935	19.0	23.0	22.0		1796	2.8	0.7	20	dbSNP_127	22	4,8264		0,4,4130	no	missense	COL20A1	NM_020882.2	145	0,5,6065	TT,TC,CC		0.0484,0.0258,0.0412	possibly-damaging	599/1285	61943400	5,12135	1936	4134	6070	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1796C>T	20.37:g.61943400C>T	ENSP00000351767:p.Ser599Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S599L	ENST00000358894.6	37	c.1796	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	2.910	-0.225608	0.06022	2.58E-4	4.84E-4	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	3.74	2.75	0.32379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.253542	0.32068	N	0.006631	T	0.32971	0.0847	L	0.27053	0.805	0.09310	N	1	B;B	0.31174	0.265;0.311	B;B	0.30855	0.074;0.121	T	0.11991	-1.0565	10	0.23891	T	0.37	.	5.9018	0.18970	0.0:0.7308:0.0:0.2692	rs45465106	606;599	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	599;599;606;606	ENSP00000351767:S599L;ENSP00000323077:S599L;ENSP00000408690:S606L;ENSP00000414753:S606L	ENSP00000323077:S599L	S	+	2	0	COL20A1	61413845	0.000000	0.05858	0.702000	0.30337	0.083000	0.17756	0.066000	0.14489	0.660000	0.30964	0.313000	0.20887	TCG	COL20A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	C	NM_020882		61943400	+1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.005	T
COL25A1	84570	genome.wustl.edu	37	4	109841754	109841754	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:109841754G>C	ENST00000399132.1	-	12	1245	c.715C>G	c.(715-717)Cta>Gta	p.L239V	COL25A1_ENST00000399126.1_Missense_Mutation_p.L239V|COL25A1_ENST00000399127.1_Missense_Mutation_p.L235V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGAGGCCCTAGAGGACCCTAA	0.358																																																	0													140.0	125.0	130.0					4																	109841754		1829	4083	5912	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.715C>G	4.37:g.109841754G>C	ENSP00000382083:p.Leu239Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Collagen	p.L239V	ENST00000399132.1	37	c.715	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277076	0.23307	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.93247	-3.19;-3.19;-3.19	5.41	2.65	0.31530	.	0.522207	0.18836	N	0.129806	T	0.80193	0.4578	N	0.03268	-0.37	0.26962	N	0.965781	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.001	T	0.66760	-0.5842	9	.	.	.	-0.1105	5.855	0.18714	0.073:0.1373:0.647:0.1427	.	239;239	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	239;241;235;235;239;169	ENSP00000382083:L239V;ENSP00000382078:L235V;ENSP00000382077:L239V	.	L	-	1	2	COL25A1	110061203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.304000	0.33482	0.308000	0.22923	0.650000	0.86243	CTA	COL25A1	-	pfam_Collagen		0.358	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	G	NM_032518		109841754	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	missense	SNP	1.000	C
COL2A1	1280	genome.wustl.edu	37	12	48369281	48369281	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:48369281G>A	ENST00000380518.3	-	51	3869	c.3705C>T	c.(3703-3705)ccC>ccT	p.P1235P	COL2A1_ENST00000337299.6_Silent_p.P1166P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1235	Nonhelical region (C-terminal).				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGTACTGCAGGGGGTCGGGGC	0.642																																																	0													51.0	49.0	49.0					12																	48369281		2203	4300	6503	SO:0001819	synonymous_variant	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3705C>T	12.37:g.48369281G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1235	ENST00000380518.3	37	c.3705	CCDS41778.1	12																																																																																			COL2A1	-	NULL		0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	G	NM_001844		48369281	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	silent	SNP	0.795	A
COL4A3	1285	genome.wustl.edu	37	2	228134682	228134682	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:228134682C>G	ENST00000396578.3	+	24	1723	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	521	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAATACAGGTCTTCCAGGATT	0.408																																																	0													79.0	80.0	80.0					2																	228134682		1843	4099	5942	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1561C>G	2.37:g.228134682C>G	ENSP00000379823:p.Leu521Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L521V	ENST00000396578.3	37	c.1561	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249617	0.05867	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93133	-3.17	5.89	4.07	0.47477	.	0.254426	0.28031	N	0.016864	D	0.93949	0.8063	L	0.57130	1.785	0.19575	N	0.999963	D;D;P;P	0.71674	0.998;0.998;0.607;0.659	D;D;B;B	0.63283	0.913;0.913;0.255;0.372	D	0.86378	0.1727	10	0.27785	T	0.31	.	8.1235	0.30984	0.0:0.7577:0.1586:0.0836	.	521;521;521;521	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	521	ENSP00000379823:L521V	ENSP00000323334:L521V	L	+	1	0	COL4A3	227842926	0.144000	0.22641	0.508000	0.27688	0.324000	0.28378	1.333000	0.33816	0.806000	0.34183	-0.136000	0.14681	CTT	COL4A3	-	pfam_Collagen		0.408	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091		228134682	+1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	0.410	G
COL4A3	1285	genome.wustl.edu	37	2	228172593	228172593	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:228172593C>G	ENST00000396578.3	+	48	4582	c.4420C>G	c.(4420-4422)Ctt>Gtt	p.L1474V	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1474	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		L -> P (in dbSNP:rs200302125). {ECO:0000269|PubMed:11134255, ECO:0000269|PubMed:7987301}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTTTTCTTTTCTTTTTGTACA	0.478																																																	0			GRCh37	CD941651	COL4A3	D							82.0	79.0	80.0					2																	228172593		1892	4109	6001	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4420C>G	2.37:g.228172593C>G	ENSP00000379823:p.Leu1474Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L1474V	ENST00000396578.3	37	c.4420	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294704	0.60086	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000315699	D	0.94897	-3.55	5.9	5.9	0.94986	C-type lectin fold (1);	0.000000	0.53938	D	0.000057	D	0.96929	0.8997	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.994	D	0.96845	0.9621	10	0.72032	D	0.01	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	1474;1474;1474	Q01955-4;Q01955-2;Q01955	.;.;CO4A3_HUMAN	V	1474	ENSP00000379823:L1474V	ENSP00000323334:L1474V	L	+	1	0	COL4A3	227880837	1.000000	0.71417	0.999000	0.59377	0.359000	0.29487	3.779000	0.55379	2.808000	0.96608	0.650000	0.86243	CTT	COL4A3	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.478	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091		228172593	+1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	1.000	G
COL6A3	1293	genome.wustl.edu	37	2	238283622	238283622	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:238283622C>G	ENST00000295550.4	-	8	3564	c.3112G>C	c.(3112-3114)Gag>Cag	p.E1038Q	COL6A3_ENST00000392003.2_Missense_Mutation_p.E631Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E837Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E832Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E832Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.E832Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E431Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E838Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1038	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGACGCCCTCAGAGCCATCA	0.557																																																	0													46.0	49.0	48.0					2																	238283622		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3112G>C	2.37:g.238283622C>G	ENSP00000295550:p.Glu1038Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E1038Q	ENST00000295550.4	37	c.3112	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061705	0.55432	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.475314	0.18877	N	0.128666	D	0.82949	0.5148	N	0.05330	-0.07	0.80722	D	1	D;P;P;D;P	0.63046	0.991;0.771;0.771;0.992;0.549	D;P;P;D;B	0.69824	0.966;0.742;0.742;0.939;0.224	D	0.84239	0.0471	10	0.36615	T	0.2	.	19.4129	0.94683	0.0:1.0:0.0:0.0	.	431;631;832;832;1038	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	Q	1038;837;832;431;832;838;832;631	ENSP00000295550:E1038Q;ENSP00000315609:E837Q;ENSP00000315873:E832Q;ENSP00000418285:E431Q;ENSP00000386844:E832Q;ENSP00000295546:E838Q;ENSP00000375861:E832Q;ENSP00000375860:E631Q	ENSP00000295550:E1038Q	E	-	1	0	COL6A3	237948361	1.000000	0.71417	0.649000	0.29536	0.042000	0.13812	5.876000	0.69667	2.652000	0.90054	0.655000	0.94253	GAG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238283622	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	G
COPA	1314	genome.wustl.edu	37	1	160261692	160261692	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:160261692C>T	ENST00000241704.7	-	30	3404	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	COPA_ENST00000368069.3_Missense_Mutation_p.E1068K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1059					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAATGTACTCACGGCAAATG	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													202.0	203.0	203.0					1																	160261692		2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3175G>A	1.37:g.160261692C>T	ENSP00000241704:p.Glu1059Lys	Somatic	1807	WXS	Illumina HiSeq	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E1068K	ENST00000241704.7	37	c.3202	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.783166	0.96937	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60040	0.22;0.22	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.85428	0.1147	10	0.87932	D	0	-30.1211	19.4432	0.94831	0.0:1.0:0.0:0.0	.	1059;1068	P53621;P53621-2	COPA_HUMAN;.	K	1068;1059	ENSP00000357048:E1068K;ENSP00000241704:E1059K	ENSP00000241704:E1059K	E	-	1	0	COPA	158528316	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.604000	0.82830	2.941000	0.99782	0.655000	0.94253	GAG	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu		0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	C	NM_004371		160261692	-1	no_errors	ENST00000368069	ensembl	human	known	70_37	missense	SNP	1.000	T
COPG1	22820	genome.wustl.edu	37	3	128971466	128971466	+	Splice_Site	SNP	G	G	A	rs535955599		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128971466G>A	ENST00000314797.6	+	4	276	c.172G>A	c.(172-174)Ggg>Agg	p.G58R		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	58					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										ATTAACACAGGGGGAGCACCT	0.537																																																	0													90.0	86.0	87.0					3																	128971466		2203	4300	6503	SO:0001630	splice_region_variant	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.172-1G>A	3.37:g.128971466G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.G58R	ENST00000314797.6	37	c.172	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.144966	0.94603	.	.	ENSG00000181789	ENST00000314797	T	0.59638	0.25	5.07	5.07	0.68467	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.81470	0.4829	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86167	0.1597	9	.	.	.	-18.4717	15.9544	0.79871	0.0:0.0:1.0:0.0	.	58	Q9Y678	COPG_HUMAN	R	58	ENSP00000325002:G58R	.	G	+	1	0	COPG	130454156	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.642000	0.74329	2.372000	0.80975	0.491000	0.48974	GGG	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu		0.537	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	G	NM_016128	Missense_Mutation	128971466	+1	no_errors	ENST00000314797	ensembl	human	known	70_37	missense	SNP	1.000	A
COPG1	22820	genome.wustl.edu	37	3	128984496	128984496	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128984496C>T	ENST00000314797.6	+	14	1433	c.1329C>T	c.(1327-1329)atC>atT	p.I443I		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	443					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCGAGTTCATCGAGGACTGCG	0.532																																																	0													150.0	119.0	130.0					3																	128984496		2203	4300	6503	SO:0001819	synonymous_variant	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1329C>T	3.37:g.128984496C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.I443	ENST00000314797.6	37	c.1329	CCDS33851.1	3																																																																																			COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	C	NM_016128		128984496	+1	no_errors	ENST00000314797	ensembl	human	known	70_37	silent	SNP	0.099	T
COQ7	10229	genome.wustl.edu	37	16	19089473	19089473	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:19089473G>C	ENST00000321998.5	+	6	713	c.647G>C	c.(646-648)aGa>aCa	p.R216T	COQ7_ENST00000568985.1_Missense_Mutation_p.R216T|COQ7_ENST00000544894.2_Missense_Mutation_p.R178T|COQ7_ENST00000569127.1_Missense_Mutation_p.R193T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	216	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TTATCAGAAAGATTATAAAGT	0.383																																																	0													103.0	95.0	98.0					16																	19089473		2197	4300	6497	SO:0001583	missense	10229			U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.647G>C	16.37:g.19089473G>C	ENSP00000322316:p.Arg216Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like	p.R216T	ENST00000321998.5	37	c.647	CCDS10574.1	16	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585994	0.66105	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.53206	0.63;0.63	5.33	5.33	0.75918	.	0.047587	0.85682	D	0.000000	T	0.78362	0.4271	H	0.94847	3.59	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.79108	0.969;0.992	D	0.84947	0.0869	10	0.87932	D	0	-0.0352	18.6392	0.91389	0.0:0.0:1.0:0.0	.	193;216	Q49A71;Q99807	.;COQ7_HUMAN	T	216;178	ENSP00000322316:R216T;ENSP00000442923:R178T	ENSP00000322316:R216T	R	+	2	0	COQ7	18996974	1.000000	0.71417	0.986000	0.45419	0.263000	0.26337	7.684000	0.84104	2.481000	0.83766	0.591000	0.81541	AGA	COQ7	-	pfam_Ubq_synth_Coq7		0.383	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COQ7	HGNC	protein_coding	OTTHUMT00000254275.3	G	NM_016138		19089473	+1	no_errors	ENST00000321998	ensembl	human	known	70_37	missense	SNP	1.000	C
COX15	1355	genome.wustl.edu	37	10	101476233	101476233	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:101476233G>C	ENST00000016171.5	-	8	1038				COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'UTR			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)						cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGGAAGAAAGAGTCTATCAC	0.463																																																	0													82.0	84.0	83.0					10																	101476233		2203	4300	6503	SO:0001627	intron_variant	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.988-15C>G	10.37:g.101476233G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	RNA	SNP	-	NULL	ENST00000016171.5	37	NULL	CCDS7482.1	10																																																																																			COX15	-	-		0.463	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX15	HGNC	protein_coding	OTTHUMT00000049818.1	G	NP_510870		101476233	-1	no_errors	ENST00000497381	ensembl	human	known	70_37	rna	SNP	0.080	C
COX7A2L	9167	genome.wustl.edu	37	2	42580342	42580342	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:42580342C>G	ENST00000378669.1	-	3	1034				COX7A2L_ENST00000482463.1_Intron|COX7A2L_ENST00000463055.1_Missense_Mutation_p.D72H|COX7A2L_ENST00000234301.2_Intron			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						TGTAGAGTATCTTCCCTCACC	0.373																																																	0													75.0	73.0	74.0					2																	42580342		2203	4300	6503	SO:0001627	intron_variant	9167			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.204+9G>C	2.37:g.42580342C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P118	Missense_Mutation	SNP	NULL	p.D72H	ENST00000378669.1	37	c.214	CCDS1808.1	2	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882443	0.33255	.	.	ENSG00000115944	ENST00000463055	.	.	.	3.81	2.91	0.33838	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35822	-0.9773	5	0.72032	D	0.01	.	5.248	0.15508	0.0:0.6753:0.2136:0.1111	.	.	.	.	H	72	.	ENSP00000431039:D72H	D	-	1	0	COX7A2L	42433846	0.001000	0.12720	0.011000	0.14972	0.714000	0.41099	0.342000	0.19926	1.156000	0.42514	0.650000	0.86243	GAT	COX7A2L	-	NULL		0.373	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A2L	HGNC	protein_coding	OTTHUMT00000250466.3	C	NM_004718		42580342	-1	no_errors	ENST00000463055	ensembl	human	putative	70_37	missense	SNP	0.012	G
CPA3	1359	genome.wustl.edu	37	3	148596241	148596241	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:148596241G>T	ENST00000296046.3	+	4	335	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	95					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTGATTCATGATCTACAAGA	0.338																																																	0													76.0	79.0	78.0					3																	148596241		2203	4295	6498	SO:0001583	missense	1359				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.283G>T	3.37:g.148596241G>T	ENSP00000296046:p.Asp95Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96E94	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.D95Y	ENST00000296046.3	37	c.283	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086655	0.55861	.	.	ENSG00000163751	ENST00000296046	T	0.27256	1.68	5.05	4.17	0.49024	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.054439	0.64402	D	0.000001	T	0.50000	0.1590	M	0.80183	2.485	0.51482	D	0.999929	D	0.89917	1.0	D	0.85130	0.997	T	0.54316	-0.8312	10	0.87932	D	0	.	9.8475	0.41037	0.1659:0.0:0.8341:0.0	.	95	P15088	CBPA3_HUMAN	Y	95	ENSP00000296046:D95Y	ENSP00000296046:D95Y	D	+	1	0	CPA3	150078931	0.999000	0.42202	0.975000	0.42487	0.994000	0.84299	1.747000	0.38298	1.491000	0.48482	0.655000	0.94253	GAT	CPA3	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.338	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	HGNC	protein_coding	OTTHUMT00000355974.1	G	NM_001870		148596241	+1	no_errors	ENST00000296046	ensembl	human	known	70_37	missense	SNP	0.994	T
CPN1	1369	genome.wustl.edu	37	10	101802222	101802222	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:101802222C>G	ENST00000370418.3	-	9	1590	c.1339G>C	c.(1339-1341)Gaa>Caa	p.E447Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	447					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCTCCATTTCTTTCTTTCTG	0.552																																																	0													97.0	86.0	90.0					10																	101802222		2203	4300	6503	SO:0001583	missense	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1339G>C	10.37:g.101802222C>G	ENSP00000359446:p.Glu447Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E447Q	ENST00000370418.3	37	c.1339	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651801	0.14516	.	.	ENSG00000120054	ENST00000370418	T	0.17054	2.3	4.02	1.14	0.20703	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.20955	0.032	T	0.42103	-0.9471	9	0.14656	T	0.56	-13.8138	3.3415	0.07120	0.2046:0.5783:0.0:0.2171	.	447	P15169	CBPN_HUMAN	Q	447	ENSP00000359446:E447Q	ENSP00000359446:E447Q	E	-	1	0	CPN1	101792212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.022000	0.12480	0.252000	0.21531	-0.145000	0.13849	GAA	CPN1	-	NULL		0.552	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	C	NM_001308		101802222	-1	no_errors	ENST00000370418	ensembl	human	known	70_37	missense	SNP	0.000	G
CPNE1	8904	genome.wustl.edu	37	20	34213974	34213974	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:34213974C>T	ENST00000317619.3	-	0	2197				CPNE1_ENST00000397443.1_3'UTR|CPNE1_ENST00000352393.4_3'UTR|CPNE1_ENST00000317677.5_3'UTR|CPNE1_ENST00000397445.1_3'UTR|CPNE1_ENST00000397446.1_3'UTR			Q99829	CPNE1_HUMAN	copine I						lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATTGGTCTTCACTGGTCTTT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.*189G>A	20.37:g.34213974C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	RNA	SNP	-	NULL	ENST00000317619.3	37	NULL	CCDS13260.1	20																																																																																			CPNE1	-	-		0.408	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	C	NM_152930		34213974	-1	no_errors	ENST00000498814	ensembl	human	known	70_37	rna	SNP	0.018	T
CPSF3	51692	genome.wustl.edu	37	2	9568944	9568944	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:9568944G>A	ENST00000238112.3	+	2	307	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CPSF3_ENST00000460593.1_5'UTR	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	34					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAGTTCAAAGGAAGAAAAATA	0.318																																					Colon(194;1259 2048 3845 5218 19985)												0													65.0	69.0	68.0					2																	9568944		2203	4298	6501	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.101G>A	2.37:g.9568944G>A	ENSP00000238112:p.Gly34Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.G34E	ENST00000238112.3	37	c.101	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126454	0.77549	.	.	ENSG00000119203	ENST00000238112;ENST00000427001	T	0.81078	-1.45	5.25	5.25	0.73442	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	M	0.66378	2.025	0.80722	D	1	P;P	0.40731	0.728;0.623	B;B	0.43225	0.33;0.412	T	0.83152	-0.0103	10	0.46703	T	0.11	-24.9393	18.1817	0.89780	0.0:0.0:1.0:0.0	.	34;34	E7ER23;Q9UKF6	.;CPSF3_HUMAN	E	34	ENSP00000238112:G34E	ENSP00000238112:G34E	G	+	2	0	CPSF3	9486395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.469000	0.97679	2.613000	0.88420	0.491000	0.48974	GGA	CPSF3	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.318	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	HGNC	protein_coding	OTTHUMT00000206843.1	G	NM_016207		9568944	+1	no_errors	ENST00000238112	ensembl	human	known	70_37	missense	SNP	1.000	A
CPSF6	11052	genome.wustl.edu	37	12	69656167	69656167	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:69656167G>C	ENST00000435070.2	+	9	1594	c.1484G>C	c.(1483-1485)aGa>aCa	p.R495T	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.R532T|CPSF6_ENST00000456847.3_Missense_Mutation_p.R422T	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	495	Arg-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAACGATCAAGAGAGAGGGAC	0.368																																																	0													109.0	101.0	104.0					12																	69656167		2203	4300	6503	SO:0001583	missense	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1484G>C	12.37:g.69656167G>C	ENSP00000391774:p.Arg495Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R532T	ENST00000435070.2	37	c.1595	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823180	0.71143	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.62232	0.04;0.04;0.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	L	0.52905	1.665	0.80722	D	1	P;D;D	0.61080	0.945;0.989;0.967	D;D;P	0.72625	0.943;0.978;0.879	T	0.72265	-0.4344	9	.	.	.	-12.4081	20.3075	0.98634	0.0:0.0:1.0:0.0	.	244;532;495	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	T	495;422;532	ENSP00000391774:R495T;ENSP00000391437:R422T;ENSP00000266679:R532T	.	R	+	2	0	CPSF6	67942434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	AGA	CPSF6	-	NULL		0.368	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	G	NM_007007		69656167	+1	no_errors	ENST00000266679	ensembl	human	known	70_37	missense	SNP	1.000	C
CPSF7	79869	genome.wustl.edu	37	11	61183222	61183222	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61183222C>T	ENST00000394888.4	-	7	1172	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CPSF7_ENST00000448745.1_Missense_Mutation_p.E325K|CPSF7_ENST00000439958.3_Missense_Mutation_p.E325K|CPSF7_ENST00000340437.4_Missense_Mutation_p.E377K	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	334					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AATTCGGCTTCACTCACTGTA	0.448																																																	0													130.0	109.0	116.0					11																	61183222		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1000G>A	11.37:g.61183222C>T	ENSP00000378352:p.Glu334Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E377K	ENST00000394888.4	37	c.1129	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910359	0.92107	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.82	5.82	0.92795	.	0.048448	0.85682	D	0.000000	D	0.92315	0.7562	M	0.61703	1.905	0.80722	D	1	D;D;D	0.65815	0.991;0.988;0.995	P;D;D	0.68483	0.908;0.937;0.958	D	0.92393	0.5923	10	0.66056	D	0.02	-4.2699	17.593	0.88003	0.0:1.0:0.0:0.0	.	334;377;325	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	K	377;334;325;325;100;258	ENSP00000345412:E377K;ENSP00000378352:E334K;ENSP00000397203:E325K;ENSP00000407394:E325K;ENSP00000437860:E258K	ENSP00000345412:E377K	E	-	1	0	CPSF7	60939798	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.940000	0.70187	2.762000	0.94881	0.467000	0.42956	GAA	CPSF7	-	NULL		0.448	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	C	NM_024811		61183222	-1	no_errors	ENST00000340437	ensembl	human	known	70_37	missense	SNP	1.000	T
CPXM2	119587	genome.wustl.edu	37	10	125506281	125506281	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:125506281C>T	ENST00000241305.3	-	14	2424	c.2270G>A	c.(2269-2271)tGa>tAa	p.*757*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	0					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCAGGAGGGTCACCCACGCTG	0.572																																																	0													46.0	50.0	48.0					10																	125506281		2203	4300	6503	SO:0001819	synonymous_variant	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2270G>A	10.37:g.125506281C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3Q2	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.*757	ENST00000241305.3	37	c.2270	CCDS7637.1	10																																																																																			CPXM2	-	NULL		0.572	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	C	NM_198148		125506281	-1	no_errors	ENST00000241305	ensembl	human	known	70_37	silent	SNP	0.374	T
CREBBP	1387	genome.wustl.edu	37	16	3781798	3781798	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3781798G>T	ENST00000262367.5	-	29	5678	c.4869C>A	c.(4867-4869)gcC>gcA	p.A1623A	CREBBP_ENST00000382070.3_Silent_p.A1585A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1623	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				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)		TCTCCATGGTGGCATACAGCT	0.607			"""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													377.0	307.0	331.0					16																	3781798		2197	4300	6497	SO:0001819	synonymous_variant	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.4869C>A	16.37:g.3781798G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Silent	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.A1623	ENST00000262367.5	37	c.4869	CCDS10509.1	16																																																																																			CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3781798	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	silent	SNP	1.000	T
CREBRF	153222	genome.wustl.edu	37	5	172518062	172518062	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:172518062G>C	ENST00000296953.2	+	4	1199	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	CREBRF_ENST00000522692.1_Missense_Mutation_p.E294Q|CREBRF_ENST00000520420.1_Missense_Mutation_p.E294Q|CREBRF_ENST00000540014.1_Missense_Mutation_p.E294Q	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	294					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCTTTTAAAGAAACCCAGGA	0.507																																																	0													56.0	57.0	57.0					5																	172518062		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.880G>C	5.37:g.172518062G>C	ENSP00000296953:p.Glu294Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.E294Q	ENST00000296953.2	37	c.880	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811309	0.70797	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.47869	0.83;0.83	5.42	5.42	0.78866	.	0.047925	0.85682	D	0.000000	T	0.57725	0.2073	L	0.32530	0.975	0.51482	D	0.999921	D;D	0.71674	0.994;0.998	P;D	0.63703	0.87;0.917	T	0.54437	-0.8294	10	0.37606	T	0.19	.	19.2171	0.93782	0.0:0.0:1.0:0.0	.	294;294	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	Q	294	ENSP00000296953:E294Q;ENSP00000440075:E294Q	ENSP00000296953:E294Q	E	+	1	0	C5orf41	172450668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.694000	0.68272	2.544000	0.85801	0.655000	0.94253	GAA	CREBRF	-	NULL		0.507	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	G	NM_153607		172518062	+1	no_errors	ENST00000540014	ensembl	human	known	70_37	missense	SNP	1.000	C
CREBRF	153222	genome.wustl.edu	37	5	172518290	172518290	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:172518290G>A	ENST00000296953.2	+	4	1427	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CREBRF_ENST00000522692.1_Missense_Mutation_p.D370N|CREBRF_ENST00000520420.1_Missense_Mutation_p.D370N|CREBRF_ENST00000540014.1_Missense_Mutation_p.D370N	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	370	Glu-rich.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										tgaggaccatgatgaaggatt	0.433																																																	0													50.0	36.0	41.0					5																	172518290		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1108G>A	5.37:g.172518290G>A	ENSP00000296953:p.Asp370Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.D370N	ENST00000296953.2	37	c.1108	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211923	0.79240	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.69561	-0.41;1.88;1.88;-0.41	5.52	5.52	0.82312	.	0.047679	0.85682	D	0.000000	T	0.74405	0.3712	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.99;0.996	T	0.77319	-0.2632	10	0.72032	D	0.01	.	19.0476	0.93028	0.0:0.0:1.0:0.0	.	370;370	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	N	370	ENSP00000431107:D370N;ENSP00000296953:D370N;ENSP00000440075:D370N;ENSP00000428290:D370N	ENSP00000296953:D370N	D	+	1	0	C5orf41	172450896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.601000	0.87937	0.655000	0.94253	GAT	CREBRF	-	NULL		0.433	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	G	NM_153607		172518290	+1	no_errors	ENST00000540014	ensembl	human	known	70_37	missense	SNP	1.000	A
CRISPLD1	83690	genome.wustl.edu	37	8	75944458	75944458	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:75944458G>C	ENST00000262207.4	+	15	1952	c.1484G>C	c.(1483-1485)aGa>aCa	p.R495T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.R309T|RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.R307T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	495					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGGCATTCAGAGTGTTTGCT	0.313																																																	0													99.0	101.0	100.0					8																	75944458		2203	4300	6503	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1484G>C	8.37:g.75944458G>C	ENSP00000262207:p.Arg495Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R495T	ENST00000262207.4	37	c.1484	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	g	23.2	4.388152	0.82902	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.88741	-2.42;-2.42;-2.42	5.8	5.8	0.92144	LCCL (1);	0.574482	0.18864	N	0.129058	D	0.90061	0.6896	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.46706	0.501;0.883	B;B	0.44224	0.118;0.444	D	0.90903	0.4770	10	0.87932	D	0	.	20.0635	0.97698	0.0:0.0:1.0:0.0	.	309;495	B7Z929;Q9H336	.;CRLD1_HUMAN	T	495;307;309	ENSP00000262207:R495T;ENSP00000430105:R307T;ENSP00000429746:R309T	ENSP00000262207:R495T	R	+	2	0	CRISPLD1	76107013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	2.733000	0.93635	0.651000	0.88453	AGA	CRISPLD1	-	superfamily_LCCL		0.313	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	G	NM_031461		75944458	+1	no_errors	ENST00000262207	ensembl	human	known	70_37	missense	SNP	1.000	C
CRLF1	9244	genome.wustl.edu	37	19	18704914	18704914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18704914C>A	ENST00000392386.3	-	8	1409	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	406					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGATCCCCTCGTCCTGTGCT	0.692																																																	0													12.0	11.0	11.0					19																	18704914		2180	4277	6457	SO:0001587	stop_gained	9244			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1216G>T	19.37:g.18704914C>A	ENSP00000376188:p.Glu406*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UHH5	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E406*	ENST00000392386.3	37	c.1216	CCDS32962.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.909892	0.97928	.	.	ENSG00000006016	ENST00000392386	.	.	.	4.21	4.21	0.49690	.	0.338021	0.21197	N	0.078539	.	.	.	.	.	.	0.44754	D	0.997757	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-41.2528	11.916	0.52765	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000376188:E406X	E	-	1	0	CRLF1	18565914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.367000	0.44213	2.188000	0.69820	0.313000	0.20887	GAG	CRLF1	-	NULL		0.692	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF1	HGNC	protein_coding	OTTHUMT00000465129.1	C			18704914	-1	no_errors	ENST00000392386	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CROCCP3	114819	genome.wustl.edu	37	1	16812997	16812997	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16812997C>T	ENST00000263511.4	-	0	1314					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCACCTTGTCCCGCAGCTGC	0.662																																																	0																																												114819			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16812997C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PW6	RNA	SNP	-	NULL	ENST00000263511.4	37	NULL		1																																																																																			CROCCP3	-	-		0.662	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	HGNC	pseudogene	OTTHUMT00000458172.1	C	XM_057040		16812997	-1	no_errors	ENST00000263511	ensembl	human	known	70_37	rna	SNP	1.000	T
CRTC1	23373	genome.wustl.edu	37	19	18853807	18853808	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18853807_18853808GG>AA	ENST00000321949.8	+	2	240_241	c.214_215GG>AA	c.(214-216)GGg>AAg	p.G72K	CRTC1_ENST00000594658.1_Missense_Mutation_p.G31K|CRTC1_ENST00000338797.6_Missense_Mutation_p.G72K|CRTC1_ENST00000601916.1_5'UTR	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAACCAGATCGGGAGTGGCACC	0.658																																																	0																																										SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		Exception_encountered	19.37:g.18853807_18853808delinsAA	ENSP00000323332:p.Gly72Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G72R|p.G72E	ENST00000321949.8	37	c.214|c.215	CCDS32963.1	19																																																																																			CRTC1	-	NULL		0.658	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	G	NM_025021		18853807|18853808	+1	no_errors	ENST00000338797	ensembl	human	known	70_37	missense	SNP	1.000	A
CRX	1406	genome.wustl.edu	37	19	48343087	48343087	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:48343087G>A	ENST00000221996.7	+	4	969	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.G255S	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	255					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTCCCTATCAGGCCAGAGCTA	0.632																																					Pancreas(57;461 1196 22201 40716 47188)												0													82.0	93.0	89.0					19																	48343087		2203	4299	6502	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.763G>A	19.37:g.48343087G>A	ENSP00000221996:p.Gly255Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G255S	ENST00000221996.7	37	c.763	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351553	0.24512	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.89485	-2.52;-2.52	3.75	2.71	0.32032	.	0.140342	0.47093	D	0.000258	T	0.72503	0.3468	N	0.10916	0.065	0.27476	N	0.952727	B	0.22346	0.068	B	0.15870	0.014	T	0.57429	-0.7813	10	0.02654	T	1	-11.0353	10.3616	0.43998	0.0:0.0:0.8021:0.1979	.	255	O43186	CRX_HUMAN	S	255	ENSP00000221996:G255S;ENSP00000445565:G255S	ENSP00000221996:G255S	G	+	1	0	CRX	53034899	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	2.630000	0.46494	0.792000	0.33850	-0.366000	0.07423	GGC	CRX	-	NULL		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	G	NM_000554		48343087	+1	no_errors	ENST00000221996	ensembl	human	known	70_37	missense	SNP	0.992	A
CRYM-AS1	400508	genome.wustl.edu	37	16	21328903	21328903	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:21328903C>T	ENST00000444326.1	+	0	1019							A6NIL9	CRAS1_HUMAN	CRYM antisense RNA 1							integral component of membrane (GO:0016021)											TAAAAGCCCTCAGTCTCTCAC	0.363																																																	0																																												400508					16p12.2	2012-10-12	2012-08-15	2011-08-11	ENSG00000189149	ENSG00000189149		"""Long non-coding RNAs"""	34405	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 169"", ""CRYM antisense RNA 1 (non-protein coding)"""	NCRNA00169			Standard	NR_026675		Approved	FLJ41766	uc010bwr.1	A6NIL9	OTTHUMG00000156701		16.37:g.21328903C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVZ2	RNA	SNP	-	NULL	ENST00000444326.1	37	NULL		16																																																																																			CRYM-AS1	-	-		0.363	CRYM-AS1-002	KNOWN	basic	lincRNA	CRYM-AS1	HGNC	lincRNA	OTTHUMT00000345335.1	C	NR_026675		21328903	+1	no_errors	ENST00000338573	ensembl	human	known	70_37	rna	SNP	0.000	T
CSAG1	158511	genome.wustl.edu	37	X	151908883	151908883	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:151908883G>A	ENST00000370287.3	+	4	450	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSAG1_ENST00000370291.2_Missense_Mutation_p.R41Q|CSAG1_ENST00000452779.2_Missense_Mutation_p.R41Q	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	41										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAACCACGAGCCTCCAGC	0.562																																																	0													248.0	224.0	232.0					X																	151908883		2203	4300	6503	SO:0001583	missense	158511			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.122G>A	X.37:g.151908883G>A	ENSP00000359310:p.Arg41Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE22	Missense_Mutation	SNP	NULL	p.R41Q	ENST00000370287.3	37	c.122	CCDS14711.1	X	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857721	0.17178	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.59083	0.96;0.96;0.29	0.903	-0.442	0.12253	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.12156	0.007	T	0.32052	-0.9921	8	0.87932	D	0	.	2.8641	0.05595	0.593:0.0:0.407:0.0	.	41	Q6PB30	CSAG1_HUMAN	Q	41	ENSP00000359310:R41Q;ENSP00000396520:R41Q;ENSP00000359314:R41Q	ENSP00000359310:R41Q	R	+	2	0	CSAG1	151659539	0.004000	0.15560	0.015000	0.15790	0.119000	0.20118	-0.113000	0.10774	-0.192000	0.10432	0.284000	0.19432	CGA	CSAG1	-	NULL		0.562	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSAG1	HGNC	protein_coding	OTTHUMT00000058760.2	G	NM_153479		151908883	+1	no_errors	ENST00000370287	ensembl	human	known	70_37	missense	SNP	0.015	A
CSMD1	64478	genome.wustl.edu	37	8	2796226	2796226	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:2796226C>T	ENST00000520002.1	-	71	11134	c.10579G>A	c.(10579-10581)Gaa>Aaa	p.E3527K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E3350K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3350K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3349K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3527K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3526K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3527						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGTTTTCATGCCCAGCA	0.403																																																	0													252.0	221.0	231.0					8																	2796226		1910	4107	6017	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10579G>A	8.37:g.2796226C>T	ENSP00000430733:p.Glu3527Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E3527K	ENST00000520002.1	37	c.10579		8	.	.	.	.	.	.	.	.	.	.	C	36	5.655612	0.96724	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.38401	1.14;1.47;1.49;1.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.996	T	0.62120	-0.6921	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	3527;3527;3349	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	K	3350;3527;3388;3526;3349	ENSP00000383047:E3350K;ENSP00000430733:E3527K;ENSP00000441462:E3526K;ENSP00000446243:E3349K	ENSP00000320445:E3388K	E	-	1	0	CSMD1	2783633	1.000000	0.71417	0.901000	0.35422	0.959000	0.62525	7.629000	0.83207	2.804000	0.96469	0.655000	0.94253	GAA	CSMD1	-	NULL		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2796226	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	T
CSTF3	1479	genome.wustl.edu	37	11	33112139	33112139	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:33112139C>G	ENST00000323959.4	-	17	1719	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	527					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GAACTTGTATCTATCTACTAG	0.363																																																	0													170.0	161.0	164.0					11																	33112139		2202	4297	6499	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1580G>C	11.37:g.33112139C>G	ENSP00000315791:p.Arg527Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.R527T	ENST00000323959.4	37	c.1580	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295938	0.81025	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.52057	0.68	5.67	4.76	0.60689	Suppressor of forked (1);	0.040720	0.85682	D	0.000000	T	0.76097	0.3940	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82993	-0.0181	10	0.66056	D	0.02	.	14.7718	0.69684	0.0:0.9305:0.0:0.0695	.	527	Q12996	CSTF3_HUMAN	T	527;460	ENSP00000315791:R527T	ENSP00000315791:R527T	R	-	2	0	CSTF3	33068715	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.742000	0.85008	1.398000	0.46701	0.650000	0.86243	AGA	CSTF3	-	pfam_Suf		0.363	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	C	NM_001326		33112139	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	missense	SNP	1.000	G
CSTF3	1479	genome.wustl.edu	37	11	33113860	33113860	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:33113860C>G	ENST00000323959.4	-	16	1541	c.1402G>C	c.(1402-1404)Gaa>Caa	p.E468Q	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	468					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAAACTCGTTCAAACAAAACT	0.333																																																	0													111.0	115.0	114.0					11																	33113860		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1402G>C	11.37:g.33113860C>G	ENSP00000315791:p.Glu468Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.E468Q	ENST00000323959.4	37	c.1402	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761760	0.89932	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.46063	0.88	6.07	5.16	0.70880	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75897	-0.3155	10	0.66056	D	0.02	.	15.5017	0.75703	0.0:0.9339:0.0:0.0661	.	468	Q12996	CSTF3_HUMAN	Q	468;401	ENSP00000315791:E468Q	ENSP00000315791:E468Q	E	-	1	0	CSTF3	33070436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	1.585000	0.49928	0.585000	0.79938	GAA	CSTF3	-	pfam_Suf,smart_HAT		0.333	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	C	NM_001326		33113860	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	missense	SNP	1.000	G
CSTF3	1479	genome.wustl.edu	37	11	33113887	33113887	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:33113887C>T	ENST00000323959.4	-	16	1515		c.e16-1		TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TTATTGTCCTCTAGGATATTG	0.338																																																	0													85.0	89.0	87.0					11																	33113887		2202	4298	6500	SO:0001630	splice_region_variant	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1376-1G>A	11.37:g.33113887C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Splice_Site	SNP	-	e16-1	ENST00000323959.4	37	c.1376-1	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295994	0.81025	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2308	0.73386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSTF3	33070463	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.609000	0.82925	2.746000	0.94184	0.460000	0.39030	.	CSTF3	-	-		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	C	NM_001326	Intron	33113887	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CTC1	80169	genome.wustl.edu	37	17	8141856	8141856	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:8141856G>T	ENST00000315684.8	-	3	296	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	97					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCAGCCTCTTGGGCCCAGGCC	0.562																																																	0													89.0	90.0	90.0					17																	8141856		2021	4173	6194	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.289C>A	17.37:g.8141856G>T	ENSP00000313759:p.Gln97Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.Q97K	ENST00000315684.8	37	c.289	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	9.236	1.037112	0.19669	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	T;T	0.81415	-1.49;-1.49	5.94	1.41	0.22369	.	0.697891	0.13963	N	0.350732	T	0.71358	0.3330	L	0.54323	1.7	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.54166	-0.8334	10	0.15952	T	0.53	-0.4767	8.2577	0.31766	0.0:0.1337:0.3601:0.5062	.	97	Q2NKJ3	CTC1_HUMAN	K	97	ENSP00000313759:Q97K;ENSP00000396018:Q97K	ENSP00000313759:Q97K	Q	-	1	0	CTC1	8082581	0.961000	0.32948	0.728000	0.30774	0.770000	0.43624	0.889000	0.28282	0.797000	0.33971	0.561000	0.74099	CAA	CTC1	-	NULL		0.562	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8141856	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	missense	SNP	0.374	T
CTDSP2	10106	genome.wustl.edu	37	12	58240198	58240198	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:58240198G>A	ENST00000398073.2	-	1	324	c.21C>T	c.(19-21)atC>atT	p.I7I	CTDSP2_ENST00000548823.1_Silent_p.I7I|CTDSP2_ENST00000547701.1_5'Flank	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	7					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GCGCCTGGGTGATGATGGAGC	0.721																																																	0													21.0	24.0	23.0					12																	58240198		1885	4105	5990	SO:0001819	synonymous_variant	10106			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.21C>T	12.37:g.58240198G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.I7	ENST00000398073.2	37	c.21	CCDS41801.1	12																																																																																			CTDSP2	-	NULL		0.721	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP2	HGNC	protein_coding	OTTHUMT00000409353.1	G	NM_005730		58240198	-1	no_errors	ENST00000398073	ensembl	human	known	70_37	silent	SNP	1.000	A
CTDSPL2	51496	genome.wustl.edu	37	15	44719943	44719943	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:44719943G>A	ENST00000260327.4	+	0	512				CTDSPL2_ENST00000558966.1_5'Flank|RP11-516C1.1_ENST00000558047.1_RNA|CTDSPL2_ENST00000396780.1_5'UTR	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GCCGGAGCCTGAGGACACTTC	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.-52G>A	15.37:g.44719943G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	RNA	SNP	-	NULL	ENST00000260327.4	37	NULL	CCDS10110.1	15																																																																																			CTDSPL2	-	-		0.612	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	G	NM_016396		44719943	+1	no_errors	ENST00000560834	ensembl	human	known	70_37	rna	SNP	0.999	A
CTNND1	1500	genome.wustl.edu	37	11	57569356	57569356	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57569356G>C	ENST00000399050.4	+	7	1644	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q	CTNND1_ENST00000361391.6_Missense_Mutation_p.E370Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.E370Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000533667.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.E370Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000531014.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.E269Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.E269Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.E370Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.E370Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.E370Q|CTNND1_ENST00000524630.1_Missense_Mutation_p.E370Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.E370Q|CTNND1_ENST00000525902.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.E370Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.E370Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000526772.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000527467.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.E269Q	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	370					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGCTGCCAGAGGTGATCGC	0.542																																																	0													86.0	86.0	86.0					11																	57569356		2033	4195	6228	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1108G>C	11.37:g.57569356G>C	ENSP00000382004:p.Glu370Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E370Q	ENST00000399050.4	37	c.1108	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475859	0.84640	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.72;0.72;0.72;0.67;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.49	4.57	0.56435	Armadillo-like helical (1);Armadillo-type fold (1);	0.097816	0.64402	D	0.000001	T	0.61974	0.2390	L	0.52905	1.665	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.71674	0.99;0.99;0.982;0.997;0.99;0.99;0.998;0.99;0.982	P;P;P;D;P;P;D;P;P	0.70016	0.864;0.864;0.734;0.922;0.864;0.864;0.967;0.864;0.734	T	0.64542	-0.6383	10	0.87932	D	0	-5.5556	13.3705	0.60711	0.0763:0.0:0.9237:0.0	.	370;370;370;269;316;316;370;370;370	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	Q	370;370;370;47;370;370;316;269;370;370;370;269;269;370;269;47;316;316;316;370;47;269;47;47;316;47;316;316;269;269;269;316;370	ENSP00000436543:E370Q;ENSP00000434808:E370Q;ENSP00000381996:E370Q;ENSP00000435242:E47Q;ENSP00000353902:E370Q;ENSP00000354907:E370Q;ENSP00000436323:E316Q;ENSP00000409930:E269Q;ENSP00000382004:E370Q;ENSP00000354785:E370Q;ENSP00000354823:E370Q;ENSP00000432075:E269Q;ENSP00000437156:E269Q;ENSP00000351527:E370Q;ENSP00000434949:E269Q;ENSP00000437051:E47Q;ENSP00000435379:E316Q;ENSP00000432243:E316Q;ENSP00000436744:E316Q;ENSP00000413586:E370Q;ENSP00000434900:E47Q;ENSP00000435266:E269Q;ENSP00000432623:E47Q;ENSP00000433158:E47Q;ENSP00000435494:E316Q;ENSP00000434672:E47Q;ENSP00000433276:E316Q;ENSP00000433334:E316Q;ENSP00000437327:E269Q;ENSP00000403518:E269Q;ENSP00000434017:E269Q;ENSP00000435789:E316Q;ENSP00000432041:E370Q	ENSP00000351527:E370Q	E	+	1	0	CTNND1	57325932	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	7.547000	0.82146	2.570000	0.86706	0.557000	0.71058	GAG	CTNND1	-	superfamily_ARM-type_fold		0.542	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	G	NM_001331		57569356	+1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	0.998	C
CTNND2	1501	genome.wustl.edu	37	5	10972955	10972955	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:10972955C>G	ENST00000304623.8	-	0	4477				CTNND2_ENST00000359640.2_3'UTR|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATACATCTTTCAAAAGTTTGA	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.*610G>C	5.37:g.10972955C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	RNA	SNP	-	NULL	ENST00000304623.8	37	NULL	CCDS3881.1	5																																																																																			CTNND2	-	-		0.318	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	C	NM_001332		10972955	-1	no_errors	ENST00000495388	ensembl	human	known	70_37	rna	SNP	1.000	G
CTSL3P	392360	genome.wustl.edu	37	9	90387889	90387889	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:90387889G>A	ENST00000354530.2	+	0	60					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										GCTTCACAATGGCCATGAACG	0.463																																																	0													134.0	125.0	128.0					9																	90387889		2203	4300	6503			392360			AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90387889G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000354530.2	37	NULL		9																																																																																			CTSL3	-	-		0.463	CTSL3P-002	KNOWN	basic	processed_transcript	CTSL3	HGNC	pseudogene	OTTHUMT00000356542.1	G	NR_027917		90387889	+1	no_errors	ENST00000354530	ensembl	human	known	70_37	rna	SNP	0.902	A
CTSL3P	392360	genome.wustl.edu	37	9	90388092	90388092	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:90388092C>T	ENST00000354530.2	+	0	163					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										CCAGGAACCTCTGCTTCATGA	0.468																																																	0													92.0	85.0	88.0					9																	90388092		2203	4300	6503			392360			AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388092C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000354530.2	37	NULL		9																																																																																			CTSL3	-	-		0.468	CTSL3P-002	KNOWN	basic	processed_transcript	CTSL3	HGNC	pseudogene	OTTHUMT00000356542.1	C	NR_027917		90388092	+1	no_errors	ENST00000354530	ensembl	human	known	70_37	rna	SNP	0.001	T
CTU1	90353	genome.wustl.edu	37	19	51607737	51607737	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:51607737G>A	ENST00000421832.2	-	2	134	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1											large_intestine(2)|lung(1)|urinary_tract(1)	4						AGGCGGCGCAGAAGCAGGCAC	0.781																																																	0													1.0	2.0	1.0					19																	51607737		1021	2272	3293	SO:0001819	synonymous_variant	90353				CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"""ATP binding domain 3"", ""cytosolic thiouridylase subunit 1 homolog (S. pombe)"""	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.90C>T	19.37:g.51607737G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA	p.F30	ENST00000421832.2	37	c.90	CCDS12824.1	19																																																																																			CTU1	-	pirsf_2-thiocytidine_tRNA_synth_TtcA		0.781	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTU1	HGNC	protein_coding	OTTHUMT00000464292.1	G	NM_145232		51607737	-1	no_errors	ENST00000421832	ensembl	human	known	70_37	silent	SNP	1.000	A
CUL4A	8451	genome.wustl.edu	37	13	113915001	113915001	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:113915001G>A	ENST00000375440.4	+	19	2196	c.2112G>A	c.(2110-2112)atG>atA	p.M704I	CUL4A_ENST00000375441.3_Missense_Mutation_p.M604I|CUL4A_ENST00000451881.1_Missense_Mutation_p.M604I|CUL4A_ENST00000326335.4_Missense_Mutation_p.M604I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	704					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCAGAATAATGAAGATGAGAA	0.318																																																	0													77.0	75.0	75.0					13																	113915001		2203	4300	6503	SO:0001583	missense	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.2112G>A	13.37:g.113915001G>A	ENSP00000364589:p.Met704Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.M704I	ENST00000375440.4	37	c.2112	CCDS41908.1	13	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947789	0.92593	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.92	5.38	5.38	0.77491	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96100	0.8729	H	0.99197	4.465	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	D	0.98039	1.0381	10	0.87932	D	0	-53.5857	19.1199	0.93358	0.0:0.0:1.0:0.0	.	704;704	Q13619;A8MSH7	CUL4A_HUMAN;.	I	604;604;604;704	ENSP00000364590:M604I;ENSP00000389118:M604I;ENSP00000322132:M604I;ENSP00000364589:M704I	ENSP00000322132:M604I	M	+	3	0	CUL4A	112963002	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.239000	0.95389	2.507000	0.84556	0.561000	0.74099	ATG	CUL4A	-	pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain		0.318	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	G	NM_003589		113915001	+1	no_errors	ENST00000375440	ensembl	human	known	70_37	missense	SNP	1.000	A
CUX1	1523	genome.wustl.edu	37	7	101754977	101754977	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:101754977G>A	ENST00000292535.7	+	7	568		c.e7-1		CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000393824.3_Splice_Site|CUX1_ENST00000560541.1_Splice_Site|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000547394.2_Splice_Site|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000425244.2_Splice_Site|CUX1_ENST00000437600.4_Splice_Site|CUX1_ENST00000292538.4_Splice_Site|CUX1_ENST00000546411.2_Splice_Site	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						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						TTCCTTTGCAGAAAGCTGCAG	0.512																																																	0													109.0	93.0	98.0					7																	101754977		2203	4300	6503	SO:0001630	splice_region_variant	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.531-1G>A	7.37:g.101754977G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	-	e7-1	ENST00000292535.7	37	c.564-1	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479123	0.84747	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101541697	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.741000	0.91583	2.832000	0.97577	0.655000	0.94253	.	CUX1	-	-		0.512	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913	Intron	101754977	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CWF19L2	143884	genome.wustl.edu	37	11	107260832	107260832	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:107260832G>C	ENST00000282251.5	-	12	1867	c.1840C>G	c.(1840-1842)Caa>Gaa	p.Q614E	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q614E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	614							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGCTTGTTTTGATTTTCTGCT	0.348																																																	0													158.0	128.0	138.0					11																	107260832		2201	4296	6497	SO:0001583	missense	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1840C>G	11.37:g.107260832G>C	ENSP00000282251:p.Gln614Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q614E	ENST00000282251.5	37	c.1840	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195776	0.58126	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.27256	1.68;1.68	5.93	5.93	0.95920	.	0.049225	0.85682	D	0.000000	T	0.35508	0.0934	M	0.80847	2.515	0.53688	D	0.999975	B	0.17268	0.021	B	0.18263	0.021	T	0.09640	-1.0665	10	0.28530	T	0.3	-9.079	17.8445	0.88725	0.0:0.0:1.0:0.0	.	614	Q2TBE0	C19L2_HUMAN	E	614	ENSP00000282251:Q614E;ENSP00000387533:Q614E	ENSP00000282251:Q614E	Q	-	1	0	CWF19L2	106766042	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.122000	0.77169	2.808000	0.96608	0.655000	0.94253	CAA	CWF19L2	-	NULL		0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	G	NM_152434		107260832	-1	no_errors	ENST00000282251	ensembl	human	known	70_37	missense	SNP	1.000	C
CXorf67	340602	genome.wustl.edu	37	X	51150246	51150246	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:51150246G>A	ENST00000342995.2	+	1	480	c.378G>A	c.(376-378)caG>caA	p.Q126Q				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	126										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TGGGGCCCCAGAAGGCCACTG	0.692																																																	0													9.0	9.0	9.0					X																	51150246		2158	4241	6399	SO:0001819	synonymous_variant	340602			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.378G>A	X.37:g.51150246G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.Q126	ENST00000342995.2	37	c.378		X																																																																																			CXorf67	-	NULL		0.692	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		G	NM_203407		51150246	+1	no_errors	ENST00000342995	ensembl	human	known	70_37	silent	SNP	0.000	A
CYFIP1	23191	genome.wustl.edu	37	15	22928434	22928434	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:22928434G>A	ENST00000313077.7	+	5	436	c.311G>A	c.(310-312)aGa>aAa	p.R104K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R104K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGCCTAACAGAGTGGAAATC	0.468																																																	0													140.0	154.0	149.0					15																	22928434		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.311G>A	15.37:g.22928434G>A	ENSP00000324549:p.Arg104Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R104K	ENST00000313077.7	37	c.311	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448111	0.63178	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42513	0.97	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000001	T	0.56920	0.2018	L	0.58669	1.825	0.80722	D	1	P;B	0.50156	0.932;0.001	P;B	0.60012	0.867;0.008	T	0.48490	-0.9031	10	0.20046	T	0.44	-8.8007	18.1393	0.89634	0.0:0.0:1.0:0.0	.	132;104	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	104;132	ENSP00000324549:R104K	ENSP00000324549:R104K	R	+	2	0	CYFIP1	20479875	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	9.403000	0.97302	2.520000	0.84964	0.561000	0.74099	AGA	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int		0.468	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22928434	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	A
CYLC2	1539	genome.wustl.edu	37	9	105766986	105766986	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:105766986G>A	ENST00000374798.3	+	4	260	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E64K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	64	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATAATTGATGAAGAACAATT	0.323																																																	0													69.0	66.0	67.0					9																	105766986		2203	4300	6503	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.190G>A	9.37:g.105766986G>A	ENSP00000420256:p.Glu64Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.E64K	ENST00000374798.3	37	c.190	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930381	0.52866	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15139	2.45;2.45	4.38	3.48	0.39840	.	0.331672	0.21983	N	0.066273	T	0.09247	0.0228	N	0.17674	0.51	0.20703	N	0.999868	B	0.32968	0.392	B	0.31547	0.132	T	0.22103	-1.0226	10	0.24483	T	0.36	-30.0188	7.5636	0.27866	0.1142:0.0:0.8858:0.0	.	64	Q14093	CYLC2_HUMAN	K	64	ENSP00000420256:E64K;ENSP00000417674:E64K	ENSP00000420256:E64K	E	+	1	0	CYLC2	104806807	0.001000	0.12720	0.596000	0.28811	0.364000	0.29643	0.502000	0.22594	2.434000	0.82447	0.591000	0.81541	GAA	CYLC2	-	NULL		0.323	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	G	NM_001340		105766986	+1	no_errors	ENST00000374798	ensembl	human	putative	70_37	missense	SNP	0.447	A
CYP11A1	1583	genome.wustl.edu	37	15	74630935	74630935	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:74630935C>G	ENST00000268053.6	-	8	1565	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	CYP11A1_ENST00000358632.4_Missense_Mutation_p.E313Q|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E313Q	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	471					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	ATGGTCATCTCTAGCTCAGCG	0.562																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													143.0	123.0	130.0					15																	74630935		2198	4297	6495	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1411G>C	15.37:g.74630935C>G	ENSP00000268053:p.Glu471Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E471Q	ENST00000268053.6	37	c.1411	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351455	0.61183	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.74421	-0.84;-0.84;-0.84	5.14	5.14	0.70334	.	0.047928	0.85682	D	0.000000	D	0.82495	0.5049	L	0.47078	1.49	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.73708	0.961;0.981	T	0.82552	-0.0400	10	0.46703	T	0.11	-18.0943	18.1856	0.89791	0.0:1.0:0.0:0.0	.	441;471	B4DTE5;P05108	.;CP11A_HUMAN	Q	471;313;313;236	ENSP00000268053:E471Q;ENSP00000351455:E313Q;ENSP00000405488:E313Q	ENSP00000268053:E471Q	E	-	1	0	CYP11A1	72417988	1.000000	0.71417	0.884000	0.34674	0.029000	0.11900	7.164000	0.77533	2.389000	0.81357	0.542000	0.68232	GAG	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.562	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	C			74630935	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	missense	SNP	1.000	G
CYP2J2	1573	genome.wustl.edu	37	1	60377293	60377293	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:60377293G>A	ENST00000371204.3	-	4	714	c.671C>T	c.(670-672)tCa>tTa	p.S224L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	224					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCATGTCTTTGAAGCCTCCAA	0.443																																																	0													104.0	100.0	101.0					1																	60377293		2203	4300	6503	SO:0001583	missense	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.671C>T	1.37:g.60377293G>A	ENSP00000360247:p.Ser224Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.S224L	ENST00000371204.3	37	c.671	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770941	0.49680	.	.	ENSG00000134716	ENST00000371204	T	0.70045	-0.45	5.55	3.51	0.40186	.	1.569480	0.03534	N	0.222839	T	0.79747	0.4499	M	0.83774	2.66	0.09310	N	1	B	0.26935	0.164	B	0.43155	0.41	T	0.64960	-0.6284	10	0.87932	D	0	.	9.7366	0.40392	0.0:0.3964:0.4633:0.1403	.	224	P51589	CP2J2_HUMAN	L	224	ENSP00000360247:S224L	ENSP00000360247:S224L	S	-	2	0	CYP2J2	60149881	0.003000	0.15002	0.002000	0.10522	0.009000	0.06853	1.233000	0.32648	1.441000	0.47550	0.655000	0.94253	TCA	CYP2J2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.443	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	G	NM_000775		60377293	-1	no_errors	ENST00000371204	ensembl	human	known	70_37	missense	SNP	0.000	A
CYP2R1	120227	genome.wustl.edu	37	11	14901774	14901774	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:14901774G>A	ENST00000334636.5	-	3	954	c.908C>T	c.(907-909)tCa>tTa	p.S303L	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Missense_Mutation_p.S70L	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	303					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TTCACCCACTGAGAAAATTAG	0.403																																					NSCLC(173;1584 2058 26117 29365 41534)												0													62.0	60.0	61.0					11																	14901774		2200	4293	6493	SO:0001583	missense	120227			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.908C>T	11.37:g.14901774G>A	ENSP00000334592:p.Ser303Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3H3|Q5RT65	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S303L	ENST00000334636.5	37	c.908	CCDS7818.1	11	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062155	0.55432	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	T;T	0.67698	-0.28;-0.28	6.17	6.17	0.99709	.	0.057238	0.64402	D	0.000001	T	0.75064	0.3799	L	0.28504	0.86	0.80722	D	1	D;B;B	0.89917	1.0;0.229;0.017	D;B;B	0.75484	0.986;0.133;0.045	T	0.70568	-0.4836	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	188;303;70	E9PS56;Q6VVX0;E9PJT9	.;CP2R1_HUMAN;.	L	70;303	ENSP00000435484:S70L;ENSP00000334592:S303L	ENSP00000334592:S303L	S	-	2	0	CYP2R1	14858350	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	TCA	CYP2R1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.403	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2R1	HGNC	protein_coding	OTTHUMT00000386985.1	G	NM_024514		14901774	-1	no_errors	ENST00000334636	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP3A43	64816	genome.wustl.edu	37	7	99436308	99436308	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:99436308G>A	ENST00000354829.2	+	3	268				CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000421837.2_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Intron|CYP3A43_ENST00000417625.1_Silent_p.L58L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AGAGGTCTCTGAATAAGATTC	0.423																																																	0																																										SO:0001627	intron_variant	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.166-435G>A	7.37:g.99436308G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.L58	ENST00000354829.2	37	c.174	CCDS5676.1	7																																																																																			CYP3A43	-	NULL		0.423	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	G			99436308	+1	no_errors	ENST00000417625	ensembl	human	novel	70_37	silent	SNP	0.042	A
Unknown	0	genome.wustl.edu	37	2	131188931	131188931	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:131188931C>T								AC140481.1 (3372 upstream) : CYP4F43P (4303 downstream)																							TCAATAATGGCGTTGTCTATA	0.418																																																	0																																										SO:0001628	intergenic_variant	646802																															2.37:g.131188931C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			CYP4F43P	-	-	0	0.418					CYP4F43P	HGNC			C			131188931	-1	no_errors	ENST00000455215	ensembl	human	known	70_37	rna	SNP	0.760	T
DAAM2	23500	genome.wustl.edu	37	6	39843173	39843173	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:39843173C>T	ENST00000398904.2	+	11	1412	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	DAAM2_ENST00000274867.4_Silent_p.L410L|DAAM2_ENST00000538976.1_Silent_p.L410L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	410	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGATTGTCCTCCAGGATGAGC	0.552																																																	0													91.0	96.0	94.0					6																	39843173		2100	4229	6329	SO:0001819	synonymous_variant	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1230C>T	6.37:g.39843173C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L410	ENST00000398904.2	37	c.1230	CCDS56426.1	6																																																																																			DAAM2	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	C			39843173	+1	no_errors	ENST00000274867	ensembl	human	known	70_37	silent	SNP	0.948	T
DAPK3	1613	genome.wustl.edu	37	19	3959476	3959476	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:3959476C>G	ENST00000545797.2	-	9	1231	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	DAPK3_ENST00000301264.3_Missense_Mutation_p.E330Q|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	330					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCCTCCTCCAGCACCTTG	0.672																																																	0													11.0	10.0	10.0					19																	3959476		2060	4080	6140	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.988G>C	19.37:g.3959476C>G	ENSP00000442973:p.Glu330Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E330Q	ENST00000545797.2	37	c.988	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779876	0.90195	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.69685	-0.42;-0.42	4.91	4.91	0.64330	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.47716	1.5	0.58432	D	0.999995	P	0.50369	0.934	B	0.43360	0.417	T	0.69621	-0.5096	10	0.59425	D	0.04	.	16.6627	0.85245	0.0:1.0:0.0:0.0	.	330	O43293	DAPK3_HUMAN	Q	330	ENSP00000301264:E330Q;ENSP00000442973:E330Q	ENSP00000301264:E330Q	E	-	1	0	DAPK3	3910476	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.337000	0.79256	2.279000	0.76181	0.561000	0.74099	GAG	DAPK3	-	superfamily_Kinase-like_dom		0.672	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	C	NM_001348		3959476	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	G
DBT	1629	genome.wustl.edu	37	1	100696454	100696454	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:100696454C>G	ENST00000370132.4	-	4	281	c.268G>C	c.(268-270)Gat>Cat	p.D90H	DBT_ENST00000370131.3_Missense_Mutation_p.D90H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	90	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GACACTGTATCTCCTTCTTTT	0.328																																																	0													69.0	67.0	67.0					1																	100696454		2202	4296	6498	SO:0001583	missense	1629			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.268G>C	1.37:g.100696454C>G	ENSP00000359151:p.Asp90His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R811|Q5VVL8	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.D90H	ENST00000370132.4	37	c.268	CCDS767.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393841	0.83011	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.36340	1.26;1.26	4.97	4.97	0.65823	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88075	0.2803	10	0.87932	D	0	-21.3052	18.5904	0.91210	0.0:1.0:0.0:0.0	.	90	P11182	ODB2_HUMAN	H	90	ENSP00000359151:D90H;ENSP00000359150:D90H	ENSP00000359150:D90H	D	-	1	0	DBT	100469042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.442000	0.80503	2.444000	0.82710	0.467000	0.42956	GAT	DBT	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl		0.328	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBT	HGNC	protein_coding	OTTHUMT00000030101.2	C	NM_001918		100696454	-1	no_errors	ENST00000370132	ensembl	human	known	70_37	missense	SNP	1.000	G
DARS2	55157	genome.wustl.edu	37	1	173808631	173808631	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:173808631G>A	ENST00000361951.4	+	10	1694	c.967G>A	c.(967-969)Gag>Aag	p.E323K	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	323					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GACTTTTGCTGAGGTGCTGGC	0.453																																																	0													159.0	144.0	149.0					1																	173808631		2203	4300	6503	SO:0001583	missense	55157			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.967G>A	1.37:g.173808631G>A	ENSP00000355086:p.Glu323Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	p.E323K	ENST00000361951.4	37	c.967	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953588	0.73902	.	.	ENSG00000117593	ENST00000361951	D	0.87029	-2.2	5.23	5.23	0.72850	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.099399	0.64402	D	0.000002	D	0.90147	0.6921	M	0.88775	2.98	0.80722	D	1	P	0.50528	0.936	P	0.48304	0.573	D	0.92267	0.5822	10	0.87932	D	0	-19.5492	17.5727	0.87939	0.0:0.0:1.0:0.0	.	323	Q6PI48	SYDM_HUMAN	K	323	ENSP00000355086:E323K	ENSP00000355086:E323K	E	+	1	0	DARS2	172075254	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.133000	0.71682	2.449000	0.82847	0.591000	0.81541	GAG	DARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-ligase_IIb_bac/mt		0.453	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	G	NM_018122		173808631	+1	no_errors	ENST00000361951	ensembl	human	known	70_37	missense	SNP	1.000	A
DCAF4L1	285429	genome.wustl.edu	37	4	41983833	41983833	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:41983833C>T	ENST00000333141.5	+	1	121	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	8										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GGCTGCGACTCCTCGAGGAAG	0.498																																																	0													85.0	85.0	85.0					4																	41983833		2203	4300	6503	SO:0001819	synonymous_variant	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.24C>T	4.37:g.41983833C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L8	ENST00000333141.5	37	c.24	CCDS33978.1	4																																																																																			DCAF4L1	-	NULL		0.498	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	C	NM_001029955		41983833	+1	no_errors	ENST00000333141	ensembl	human	known	70_37	silent	SNP	0.921	T
DCC	1630	genome.wustl.edu	37	18	50985767	50985767	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:50985767C>G	ENST00000442544.2	+	24	4174	c.3558C>G	c.(3556-3558)ctC>ctG	p.L1186L	DCC_ENST00000581580.1_Silent_p.L821L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1186					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCAAGACCTCACACCAGTCA	0.453																																																	0													130.0	128.0	129.0					18																	50985767		2203	4300	6503	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3558C>G	18.37:g.50985767C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1186	ENST00000442544.2	37	c.3558	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C		0.453	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		50985767	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	silent	SNP	1.000	G
DCHS1	8642	genome.wustl.edu	37	11	6643101	6643101	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6643101G>C	ENST00000299441.3	-	21	10217	c.9806C>G	c.(9805-9807)tCa>tGa	p.S3269*	TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3269					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAAATGGTGAGACAACGGG	0.637																																																	0													47.0	42.0	43.0					11																	6643101		2201	4296	6497	SO:0001587	stop_gained	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9806C>G	11.37:g.6643101G>C	ENSP00000299441:p.Ser3269*	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S3269*	ENST00000299441.3	37	c.9806	CCDS7771.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.724555|19.724555	0.99923|0.99923	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.36134	.|N	.|0.002766	T|.	0.76506|.	0.3997|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79417|.	-0.1812|.	5|.	0.87932|0.72032	D|D	0|0.01	.|.	17.0523|17.0523	0.86523|0.86523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	29|3269	.|.	ENSP00000390601:H29D|ENSP00000299441:S3269X	H|S	-|-	1|2	0|0	DCHS1|DCHS1	6599677|6599677	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	9.604000|9.604000	0.98317|0.98317	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	CAC|TCA	DCHS1	-	NULL		0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6643101	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	nonsense	SNP	1.000	C
DCDC1	341019	genome.wustl.edu	37	11	31112999	31112999	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:31112999G>C	ENST00000597505.1	-	15	2177	c.2178C>G	c.(2176-2178)atC>atG	p.I726M	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTGACTCTGATAGGATGAC	0.393																																																	0													64.0	58.0	60.0					11																	31112999		1863	4115	5978	SO:0001583	missense	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2178C>G	11.37:g.31112999G>C	ENSP00000472625:p.Ile726Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.I726M	ENST00000597505.1	37	c.2178		11																																																																																			DCDC5	-	superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.393	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000463167.1	G	NM_181807		31112999	-1	no_errors	ENST00000597505	ensembl	human	putative	70_37	missense	SNP	0.994	C
DCHS2	54798	genome.wustl.edu	37	4	155157160	155157160	+	Missense_Mutation	SNP	G	G	C	rs200042662	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155157160G>C	ENST00000357232.4	-	25	7278	c.7279C>G	c.(7279-7281)Caa>Gaa	p.Q2427E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2427	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TACTGATCTTGAGTGAAAATG	0.448																																																	0													86.0	86.0	86.0					4																	155157160		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7279C>G	4.37:g.155157160G>C	ENSP00000349768:p.Gln2427Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q2427E	ENST00000357232.4	37	c.7279	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056142	0.76074	.	.	ENSG00000197410	ENST00000357232	T	0.60920	0.15	6.04	6.04	0.98038	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.75910	0.3914	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	T	0.73799	-0.3869	10	0.36615	T	0.2	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2427	Q6V1P9	PCD23_HUMAN	E	2427	ENSP00000349768:Q2427E	ENSP00000349768:Q2427E	Q	-	1	0	DCHS2	155376610	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.595000	0.67563	2.873000	0.98535	0.563000	0.77884	CAA	DCHS2	-	superfamily_Cadherin-like,pfscan_Cadherin		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155157160	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	1.000	C
DCHS2	54798	genome.wustl.edu	37	4	155305547	155305547	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155305547C>G	ENST00000357232.4	-	2	206	c.207G>C	c.(205-207)gaG>gaC	p.E69D	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		gttttgcgttctcttcctggc	0.502																																																	0													228.0	166.0	187.0					4																	155305547		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.207G>C	4.37:g.155305547C>G	ENSP00000349768:p.Glu69Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E69D	ENST00000357232.4	37	c.207	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	3.054	-0.194673	0.06259	.	.	ENSG00000197410	ENST00000357232	T	0.75367	-0.93	3.0	1.14	0.20703	Cadherin (1);Cadherin-like (1);	1.197550	0.06538	U	0.742765	T	0.54078	0.1836	N	0.14661	0.345	0.09310	N	1	B	0.31949	0.348	B	0.37015	0.239	T	0.45366	-0.9266	10	0.06891	T	0.86	.	3.9026	0.09167	0.0:0.6015:0.2542:0.1443	.	69	Q6V1P9	PCD23_HUMAN	D	69	ENSP00000349768:E69D	ENSP00000349768:E69D	E	-	3	2	DCHS2	155524997	0.007000	0.16637	0.001000	0.08648	0.013000	0.08279	0.453000	0.21811	0.284000	0.22305	0.456000	0.33151	GAG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like		0.502	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155305547	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.001	G
DCLK2	166614	genome.wustl.edu	37	4	151174642	151174642	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:151174642G>C	ENST00000296550.7	+	16	2827				DCLK2_ENST00000506325.1_Intron|DCLK2_ENST00000302176.8_Intron	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGACAGTTTGAGAGGCACCT	0.468																																					GBM(195;186 2215 13375 16801 37459)												0																																										SO:0001627	intron_variant	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.2074-2530G>C	4.37:g.151174642G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J5Q9|Q59GC8|Q8N399	Nonstop_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.*696S	ENST00000296550.7	37	c.2087	CCDS34076.1	4																																																																																			DCLK2	-	NULL		0.468	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	G	NM_001040260		151174642	+1	no_errors	ENST00000411937	ensembl	human	known	70_37	nonstop	SNP	1.000	C
DCHS2	54798	genome.wustl.edu	37	4	155410577	155410577	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155410577G>A	ENST00000339452.1	-	1	2291	c.1931C>T	c.(1930-1932)tCt>tTt	p.S644F	DCHS2_ENST00000443500.1_Missense_Mutation_p.S644F|DCHS2_ENST00000456341.2_Missense_Mutation_p.S637F	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1768	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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGGTGGCAGAGAGTGGGGG	0.592																																																	0													50.0	54.0	53.0					4																	155410577		692	1591	2283	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1931C>T	4.37:g.155410577G>A	ENSP00000345062:p.Ser644Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S644F	ENST00000339452.1	37	c.1931	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554855	0.45487	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.55052	0.54;0.54;0.54	5.3	5.3	0.74995	.	.	.	.	.	T	0.53530	0.1802	L	0.43598	1.365	0.42739	D	0.99373	B;P	0.41008	0.372;0.735	B;P	0.46510	0.34;0.519	T	0.42172	-0.9467	9	0.20519	T	0.43	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	644;644	E9PG03;E9PC11	.;.	F	644;644;637;644	ENSP00000345062:S644F;ENSP00000408543:S637F;ENSP00000395539:S644F	ENSP00000345062:S644F	S	-	2	0	DCHS2	155630027	1.000000	0.71417	0.993000	0.49108	0.648000	0.38561	6.786000	0.75094	2.761000	0.94854	0.650000	0.86243	TCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	G	NM_001142552		155410577	-1	no_errors	ENST00000339452	ensembl	human	known	70_37	missense	SNP	1.000	A
DCP1B	196513	genome.wustl.edu	37	12	2062277	2062277	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:2062277C>T	ENST00000280665.6	-	7	908	c.829G>A	c.(829-831)Gag>Aag	p.E277K	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.E175K|DCP1B_ENST00000540622.1_Missense_Mutation_p.E151K	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	277					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGGGTTCCTCATAGGACAGG	0.572																																																	0													59.0	63.0	62.0					12																	2062277		2203	4300	6503	SO:0001583	missense	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.829G>A	12.37:g.2062277C>T	ENSP00000280665:p.Glu277Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	pfam_DCP1	p.E277K	ENST00000280665.6	37	c.829	CCDS31727.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557267	0.86231	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23348	1.98;1.96;1.91	4.92	4.92	0.64577	.	0.159152	0.56097	D	0.000036	T	0.49795	0.1578	M	0.67953	2.075	0.45205	D	0.998219	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.922	T	0.44726	-0.9309	10	0.45353	T	0.12	-28.5884	17.2892	0.87150	0.0:1.0:0.0:0.0	.	175;277	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	K	277;175;151	ENSP00000280665:E277K;ENSP00000380358:E175K;ENSP00000444374:E151K	ENSP00000280665:E277K	E	-	1	0	DCP1B	1932538	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.452000	0.66638	2.556000	0.86216	0.650000	0.86243	GAG	DCP1B	-	NULL		0.572	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1	C	NM_152640		2062277	-1	no_errors	ENST00000280665	ensembl	human	known	70_37	missense	SNP	1.000	T
DDB2	1643	genome.wustl.edu	37	11	47256436	47256436	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47256436G>T	ENST00000256996.4	+	6	1026	c.831G>T	c.(829-831)ggG>ggT	p.G277G	DDB2_ENST00000378603.3_Silent_p.G213G|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	277					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						AGGTTAGAGGGAAAGCCAGCT	0.562			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													47.0	46.0	47.0					11																	47256436		2201	4298	6499	SO:0001819	synonymous_variant	1643	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.831G>T	11.37:g.47256436G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G277	ENST00000256996.4	37	c.831	CCDS7927.1	11																																																																																			DDB2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.562	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		G	NM_000107		47256436	+1	no_errors	ENST00000256996	ensembl	human	known	70_37	silent	SNP	1.000	T
KDELR3	11015	genome.wustl.edu	37	22	38882271	38882271	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38882271C>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_Missense_Mutation_p.G622E|DDX17_ENST00000381633.3_Missense_Mutation_p.G543E|DDX17_ENST00000444597.1_Missense_Mutation_p.G72E	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					ATTTGGACTTCCATAGCCACT	0.517																																					Ovarian(11;103 529 24120 28493 32980)												0													83.0	73.0	77.0					22																	38882271		2203	4300	6503	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882271C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G622E	ENST00000216014.4	37	c.1865	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746604	0.30955	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.30182	1.55;1.61;1.54	5.53	5.53	0.82687	.	0.566355	0.18372	N	0.143228	T	0.25754	0.0627	N	0.19112	0.55	0.53688	D	0.999972	B;B;B	0.27166	0.056;0.093;0.17	B;B;B	0.28784	0.008;0.018;0.094	T	0.04870	-1.0921	10	0.35671	T	0.21	-11.1039	19.4787	0.95000	0.0:1.0:0.0:0.0	.	624;620;74	Q59F66;Q92841-4;Q9UQL5	.;.;.	E	622;543;74;72;620;624	ENSP00000380033:G622E;ENSP00000371046:G543E;ENSP00000385536:G620E	ENSP00000371046:G543E	G	-	2	0	DDX17	37212217	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.131000	0.50515	2.583000	0.87209	0.655000	0.94253	GGA	DDX17	-	NULL		0.517	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000331474.1	C			38882271	-1	no_errors	ENST00000396821	ensembl	human	known	70_37	missense	SNP	1.000	T
KDELR3	11015	genome.wustl.edu	37	22	38882311	38882311	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38882311C>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_Missense_Mutation_p.E609K|DDX17_ENST00000381633.3_Missense_Mutation_p.E530K|DDX17_ENST00000444597.1_Missense_Mutation_p.E59K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTATCGGTTTCACTACGATCC	0.502																																					Ovarian(11;103 529 24120 28493 32980)												0													74.0	65.0	68.0					22																	38882311		2203	4300	6503	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882311C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E609K	ENST00000216014.4	37	c.1825	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188365	0.38609	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.26223	1.75;1.76;1.75	5.53	5.53	0.82687	.	0.603795	0.17488	N	0.172447	T	0.13243	0.0321	N	0.08118	0	0.40988	D	0.984836	B;B;B	0.13145	0.005;0.003;0.007	B;B;B	0.16289	0.003;0.002;0.015	T	0.07404	-1.0774	10	0.06757	T	0.87	-14.7567	15.0157	0.71581	0.0:0.8581:0.1419:0.0	.	611;607;61	Q59F66;Q92841-4;Q9UQL5	.;.;.	K	609;530;61;59;607;611	ENSP00000380033:E609K;ENSP00000371046:E530K;ENSP00000385536:E607K	ENSP00000371046:E530K	E	-	1	0	DDX17	37212257	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	2.549000	0.45803	2.583000	0.87209	0.655000	0.94253	GAA	DDX17	-	NULL		0.502	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000331474.1	C			38882311	-1	no_errors	ENST00000396821	ensembl	human	known	70_37	missense	SNP	0.999	T
DDX23	9416	genome.wustl.edu	37	12	49233831	49233831	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49233831C>T	ENST00000308025.3	-	4	458	c.379G>A	c.(379-381)Gat>Aat	p.D127N	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	127					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTCTTCATCCTTCTTAGAG	0.413																																																	0													232.0	224.0	227.0					12																	49233831		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.379G>A	12.37:g.49233831C>T	ENSP00000310723:p.Asp127Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D127N	ENST00000308025.3	37	c.379	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471223	0.84533	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21734	1.99	5.87	5.87	0.94306	.	0.364463	0.30510	N	0.009478	T	0.17959	0.0431	N	0.24115	0.695	0.45452	D	0.998427	B	0.26400	0.148	B	0.22152	0.038	T	0.02736	-1.1117	10	0.44086	T	0.13	-10.2937	19.0502	0.93039	0.0:1.0:0.0:0.0	.	127	Q9BUQ8	DDX23_HUMAN	N	127	ENSP00000310723:D127N	ENSP00000310723:D127N	D	-	1	0	DDX23	47520098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.233000	0.72320	2.798000	0.96311	0.650000	0.86243	GAT	DDX23	-	NULL		0.413	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	C	NM_004818		49233831	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	missense	SNP	1.000	T
DDX3X	1654	genome.wustl.edu	37	X	41204678	41204678	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:41204678G>C	ENST00000399959.2	+	12	2047	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Missense_Mutation_p.D382H	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGATTTCTTAGATGAATATAT	0.328										HNSCC(61;0.18)																																							0													65.0	59.0	61.0					X																	41204678		1993	4159	6152	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1192G>C	X.37:g.41204678G>C	ENSP00000382840:p.Asp398His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D398H	ENST00000399959.2	37	c.1192	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	g	15.94	2.981789	0.53827	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.05025	3.51;3.51	5.17	5.17	0.71159	DEAD-like helicase (2);	0.092688	0.64402	D	0.000001	T	0.06280	0.0162	N	0.16833	0.445	0.80722	D	1	B;B;B;B	0.16166	0.016;0.001;0.015;0.015	B;B;B;B	0.23716	0.048;0.004;0.011;0.011	T	0.41502	-0.9505	10	0.38643	T	0.18	-28.6556	17.8572	0.88769	0.0:0.0:1.0:0.0	.	398;382;410;398	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	H	398;382	ENSP00000382840:D398H;ENSP00000392494:D382H	ENSP00000382840:D398H	D	+	1	0	DDX3X	41089622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.798000	0.99111	2.149000	0.67028	0.525000	0.51046	GAT	DDX3X	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.328	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	G	NM_024005		41204678	+1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	C
DDX43	55510	genome.wustl.edu	37	6	74125280	74125280	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:74125280G>C	ENST00000370336.4	+	15	1964	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	602	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCTCTGAATTGATTAATATTC	0.378																																																	0													112.0	111.0	111.0					6																	74125280		2203	4300	6503	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1806G>C	6.37:g.74125280G>C	ENSP00000359361:p.Leu602Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L602F	ENST00000370336.4	37	c.1806	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429745	0.25726	.	.	ENSG00000080007	ENST00000370336	T	0.23950	1.88	4.66	-0.465	0.12157	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15093	-1.0449	10	0.87932	D	0	-5.5335	9.2046	0.37282	0.4605:0.0:0.5395:0.0	.	602	Q9NXZ2	DDX43_HUMAN	F	602	ENSP00000359361:L602F	ENSP00000359361:L602F	L	+	3	2	DDX43	74182001	1.000000	0.71417	0.960000	0.40013	0.005000	0.04900	1.158000	0.31737	-0.144000	0.11314	-1.075000	0.02238	TTG	DDX43	-	pfscan_Helicase_C		0.378	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	G	NM_018665		74125280	+1	no_errors	ENST00000370336	ensembl	human	known	70_37	missense	SNP	0.988	C
DENND2C	163259	genome.wustl.edu	37	1	115153695	115153695	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:115153695C>G	ENST00000393274.1	-	9	1993	c.1368G>C	c.(1366-1368)aaG>aaC	p.K456N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Splice_Site_p.K456N|DENND2C_ENST00000393276.3_Splice_Site_p.K399N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	456					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACTCACTCTTTGGCAGAT	0.463																																																	0													301.0	225.0	251.0					1																	115153695		2203	4300	6503	SO:0001630	splice_region_variant	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1369+1G>C	1.37:g.115153695C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL26|Q5TCX6|Q6P3R3	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.K456N	ENST00000393274.1	37	c.1368	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477723	0.84640	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.13420	3.55;3.3;2.59	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	T	0.23611	0.0571	M	0.79011	2.435	0.48452	D	0.999653	P;P	0.52842	0.956;0.909	P;P	0.61328	0.535;0.887	T	0.01553	-1.1326	10	0.87932	D	0	.	8.8384	0.35126	0.0:0.8747:0.0:0.1253	.	456;399	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	399;456;456;456	ENSP00000376957:K399N;ENSP00000376955:K456N;ENSP00000376958:K456N	ENSP00000358553:K456N	K	-	3	2	DENND2C	114955218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.151000	0.58105	2.691000	0.91804	0.561000	0.74099	AAG	DENND2C	-	NULL		0.463	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459	Missense_Mutation	115153695	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	G
DEGS1	8560	genome.wustl.edu	37	1	224377971	224377971	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:224377971C>T	ENST00000323699.4	+	2	941	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	DEGS1_ENST00000391877.3_Missense_Mutation_p.H259Y	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	259					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTGGGTTATCATAATGAACA	0.328																																																	0													60.0	60.0	60.0					1																	224377971		2203	4300	6503	SO:0001583	missense	8560			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.775C>T	1.37:g.224377971C>T	ENSP00000316476:p.His259Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.H259Y	ENST00000323699.4	37	c.775	CCDS1540.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385122	0.82792	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.52057	0.68;0.68;0.68	5.8	5.8	0.92144	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81522	0.4840	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.87468	0.2412	10	0.87932	D	0	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	259;238	O15121;E7EMA0	DEGS1_HUMAN;.	Y	238;259;259	ENSP00000400545:H238Y;ENSP00000316476:H259Y;ENSP00000375749:H259Y	ENSP00000316476:H259Y	H	+	1	0	DEGS1	222444594	1.000000	0.71417	0.994000	0.49952	0.817000	0.46193	7.818000	0.86416	2.747000	0.94245	0.549000	0.68633	CAT	DEGS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase		0.328	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS1	HGNC	protein_coding	OTTHUMT00000091285.2	C			224377971	+1	no_errors	ENST00000323699	ensembl	human	known	70_37	missense	SNP	1.000	T
DGKK	139189	genome.wustl.edu	37	X	50127785	50127785	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:50127785C>G	ENST00000376025.2	-	0	2444							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AACTAAAGTTCTTAACAGATA	0.428																																																	0													138.0	127.0	131.0					X																	50127785		1865	4090	5955			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50127785C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.428	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50127785	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.987	G
DHX30	22907	genome.wustl.edu	37	3	47887268	47887268	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47887268G>A	ENST00000445061.1	+	10	1425	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	DHX30_ENST00000457607.1_Missense_Mutation_p.E368K|DHX30_ENST00000446256.2_Missense_Mutation_p.E301K|DHX30_ENST00000348968.4_Missense_Mutation_p.E312K	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	340						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGAGCTGGGTGAGACCCAGCG	0.597																																																	0													112.0	97.0	102.0					3																	47887268		2203	4300	6503	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1018G>A	3.37:g.47887268G>A	ENSP00000405620:p.Glu340Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E340K	ENST00000445061.1	37	c.1018	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684778	0.88639	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03358	3.99;3.98;3.98;3.96	5.38	5.38	0.77491	.	0.053888	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46157	1.445	0.58432	D	0.999999	B;B	0.33238	0.139;0.403	B;B	0.30782	0.056;0.12	T	0.30707	-0.9969	10	0.56958	D	0.05	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	340;301	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	K	301;340;312;368	ENSP00000392601:E301K;ENSP00000405620:E340K;ENSP00000343442:E312K;ENSP00000394682:E368K	ENSP00000343442:E312K	E	+	1	0	DHX30	47862272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.527000	0.85204	0.655000	0.94253	GAG	DHX30	-	NULL		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	G	NM_138615		47887268	+1	no_errors	ENST00000445061	ensembl	human	known	70_37	missense	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51128868	51128868	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:51128868G>A	ENST00000301180.5	+	34	4090	c.4056G>A	c.(4054-4056)gtG>gtA	p.V1352V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1352						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCGTCTCGTGGAACGTGGCG	0.512											OREG0021816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													154.0	143.0	147.0					12																	51128868		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4056G>A	12.37:g.51128868G>A		Somatic	975	WXS	Illumina HiSeq	Phase_IV	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1352	ENST00000301180.5	37	c.4056	CCDS31799.1	12																																																																																			DIP2B	-	pfam_AMP-dep_Synth/Lig		0.512	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51128868	+1	no_errors	ENST00000301180	ensembl	human	known	70_37	silent	SNP	1.000	A
DIRAS3	9077	genome.wustl.edu	37	1	68512845	68512845	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:68512845C>T	ENST00000370981.1	-	4	772	c.136G>A	c.(136-138)Gct>Act	p.A46T	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.A46T			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	46					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCACACCAGCGGTGCCGACT	0.597																																																	0													87.0	89.0	88.0					1																	68512845		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.136G>A	1.37:g.68512845C>T	ENSP00000360020:p.Ala46Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A46T	ENST00000370981.1	37	c.136	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398702	0.62177	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.76839	-1.05;-1.05	3.94	-0.941	0.10402	Small GTP-binding protein domain (1);	.	.	.	.	T	0.66626	0.2808	L	0.46614	1.455	0.26925	N	0.966587	D	0.57899	0.981	P	0.59012	0.85	T	0.58662	-0.7597	9	0.87932	D	0	.	5.2479	0.15506	0.3344:0.5002:0.0:0.1654	.	46	O95661	DIRA3_HUMAN	T	46	ENSP00000360020:A46T;ENSP00000378627:A46T	ENSP00000360020:A46T	A	-	1	0	DIRAS3	68285433	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	1.258000	0.32944	-0.493000	0.06678	0.563000	0.77884	GCT	DIRAS3	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.597	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	C	NM_004675		68512845	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.686	T
DIRC2	84925	genome.wustl.edu	37	3	122591347	122591347	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:122591347C>G	ENST00000261038.5	+	8	1622	c.1224C>G	c.(1222-1224)gtC>gtG	p.V408V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	408					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGGAAACTGTCTACCCAGTTC	0.348																																																	0													174.0	178.0	176.0					3																	122591347		2203	4300	6503	SO:0001819	synonymous_variant	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1224C>G	3.37:g.122591347C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K561|Q8NBX9	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.V408	ENST00000261038.5	37	c.1224	CCDS3018.1	3																																																																																			DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.348	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122591347	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	silent	SNP	1.000	G
DISP2	85455	genome.wustl.edu	37	15	40659864	40659864	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:40659864G>A	ENST00000267889.3	+	8	1638	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	517	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCATGGTGCTGCTGGGGGTGC	0.617																																																	0													100.0	89.0	93.0					15																	40659864		2203	4300	6503	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1551G>A	15.37:g.40659864G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.L517	ENST00000267889.3	37	c.1551	CCDS10056.1	15																																																																																			DISP2	-	pfscan_SSD		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	G	NM_033510		40659864	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	silent	SNP	0.998	A
DIS3L	115752	genome.wustl.edu	37	15	66604206	66604206	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:66604206G>C	ENST00000319212.4	+	5	753	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	DIS3L_ENST00000319194.5_Missense_Mutation_p.E152Q|DIS3L_ENST00000441424.2_Missense_Mutation_p.E101Q	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	235					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGAAGTGTTAGAAGCTGGGAT	0.498																																																	0													111.0	102.0	105.0					15																	66604206		2201	4299	6500	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.703G>C	15.37:g.66604206G>C	ENSP00000321711:p.Glu235Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E235Q	ENST00000319212.4	37	c.703	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503264	0.44558	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212;ENST00000525109	T;T;T;T	0.64618	0.98;0.98;0.98;-0.11	4.91	3.99	0.46301	.	0.050882	0.85682	D	0.000000	T	0.47192	0.1432	N	0.04880	-0.145	0.53688	D	0.999976	P;P	0.49783	0.604;0.928	B;P	0.51487	0.353;0.671	T	0.35226	-0.9797	10	0.13853	T	0.58	-17.5435	12.1998	0.54319	0.0834:0.0:0.9166:0.0	.	235;235	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	Q	152;101;235;101	ENSP00000321583:E152Q;ENSP00000388980:E101Q;ENSP00000321711:E235Q;ENSP00000432125:E101Q	ENSP00000321583:E152Q	E	+	1	0	DIS3L	64391260	1.000000	0.71417	0.082000	0.20525	0.189000	0.23516	9.407000	0.97325	1.035000	0.39972	0.462000	0.41574	GAA	DIS3L	-	NULL		0.498	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	G	NM_133375		66604206	+1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	1.000	C
DIXDC1	85458	genome.wustl.edu	37	11	111890287	111890287	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111890287C>G	ENST00000389821.4	+	0	2875				DIXDC1_ENST00000440460.2_3'UTR|DIXDC1_ENST00000315253.5_3'UTR			Q155Q3	DIXC1_HUMAN	DIX domain containing 1						camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GCCCAGACTTCAGTAATCTTT	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000389821.4:c.*2872C>G	11.37:g.111890287C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	RNA	SNP	-	NULL	ENST00000389821.4	37	NULL		11																																																																																			DIXDC1	-	-		0.423	DIXDC1-001	KNOWN	basic	processed_transcript	DIXDC1	HGNC	protein_coding	OTTHUMT00000391833.1	C	NM_001037954		111890287	+1	no_errors	ENST00000389821	ensembl	human	known	70_37	rna	SNP	0.877	G
DLEC1	9940	genome.wustl.edu	37	3	38103846	38103846	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:38103846G>C	ENST00000308059.6	+	4	881	c.860G>C	c.(859-861)aGa>aCa	p.R287T	DLEC1_ENST00000452631.2_Missense_Mutation_p.R287T|DLEC1_ENST00000346219.3_Missense_Mutation_p.R287T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAAGGACCAGAGAACCTCTC	0.498																																																	0													57.0	54.0	55.0					3																	38103846		1943	4155	6098	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.860G>C	3.37:g.38103846G>C	ENSP00000308597:p.Arg287Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_PapD-like	p.R287T	ENST00000308059.6	37	c.860	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	1.933	-0.445414	0.04604	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04917	3.55;3.53;3.77	3.77	-7.54	0.01332	.	2.387780	0.01126	N	0.005885	T	0.03608	0.0103	N	0.17474	0.49	0.09310	N	1	B;B;B	0.11235	0.002;0.001;0.004	B;B;B	0.09377	0.004;0.003;0.004	T	0.36261	-0.9755	10	0.12103	T	0.63	0.0507	7.5868	0.27998	0.1809:0.3938:0.4253:0.0	.	287;287;287	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	287	ENSP00000308597:R287T;ENSP00000315914:R287T;ENSP00000410427:R287T	ENSP00000308597:R287T	R	+	2	0	DLEC1	38078850	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.289000	0.08365	-2.059000	0.00894	-0.176000	0.13171	AGA	DLEC1	-	NULL		0.498	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	G	NM_007337		38103846	+1	no_errors	ENST00000346219	ensembl	human	known	70_37	missense	SNP	0.000	C
DLG5	9231	genome.wustl.edu	37	10	79552246	79552246	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:79552246G>A	ENST00000372391.2	-	32	5717	c.5712C>T	c.(5710-5712)gtC>gtT	p.V1904V	RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Silent_p.V1564V|RP13-39P12.3_ENST00000434097.2_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1904	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTTCTTGATTGACCATTGCCA	0.542																																																	0													121.0	120.0	120.0					10																	79552246		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5712C>T	10.37:g.79552246G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.V1904	ENST00000372391.2	37	c.5712	CCDS7353.2	10																																																																																			DLG5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79552246	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	0.985	A
DMBT1	1755	genome.wustl.edu	37	10	124390648	124390648	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:124390648G>C	ENST00000338354.3	+	46	5916	c.5810G>C	c.(5809-5811)gGa>gCa	p.G1937A	DMBT1_ENST00000330163.4_Missense_Mutation_p.G1309A|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1937A|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1927A|DMBT1_ENST00000359586.6_Missense_Mutation_p.G657A|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1309A|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1927A			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1937	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCTTGGAAATGCATAT	0.582																																					Ovarian(182;93 2026 18125 22222 38972)												0													121.0	123.0	122.0					10																	124390648		2059	4200	6259	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5810G>C	10.37:g.124390648G>C	ENSP00000342210:p.Gly1937Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.G2066A	ENST00000338354.3	37	c.6197		10	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494251	0.44352	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.41	3.44	0.39384	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.57695	0.2071	M	0.70595	2.14	0.09310	N	1	P;D;P;D;D;D;B	0.89917	0.804;1.0;0.827;1.0;1.0;0.999;0.213	B;D;B;D;D;D;B	0.97110	0.284;1.0;0.259;1.0;0.998;0.997;0.345	T	0.42275	-0.9461	9	0.33141	T	0.24	.	6.582	0.22600	0.1545:0.0:0.7011:0.1444	.	657;1917;1186;2066;1309;1927;1937	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	A	1937;2066;1937;1937;1937;1937;1309;1927;1309;1309;1937;1927;1309;83;657	ENSP00000342210:G1937A;ENSP00000343175:G1927A;ENSP00000327747:G1309A;ENSP00000357905:G1937A;ENSP00000357951:G1927A;ENSP00000357952:G1309A;ENSP00000352593:G657A	ENSP00000331522:G1309A	G	+	2	0	DMBT1	124380638	0.000000	0.05858	0.020000	0.16555	0.023000	0.10783	-0.301000	0.08232	1.271000	0.44313	0.655000	0.94253	GGA	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124390648	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.001	C
DMC1	11144	genome.wustl.edu	37	22	38951397	38951397	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38951397C>T	ENST00000216024.2	-	6	620	c.344G>A	c.(343-345)gGa>gAa	p.G115E	DMC1_ENST00000428462.2_Missense_Mutation_p.G115E	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	115					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ACTTTCAATTCCACCTCCTAG	0.308								Homologous recombination																																									0													65.0	67.0	67.0					22																	38951397		2202	4286	6488	SO:0001583	missense	11144			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.344G>A	22.37:g.38951397C>T	ENSP00000216024:p.Gly115Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.G115E	ENST00000216024.2	37	c.344	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360119	0.82353	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	6.04	6.04	0.98038	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92369	0.5904	10	0.87932	D	0	-0.476	18.3679	0.90398	0.0:1.0:0.0:0.0	.	115;115;115	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	E	115	ENSP00000216024:G115E;ENSP00000412703:G115E;ENSP00000391385:G115E;ENSP00000410808:G115E	ENSP00000216024:G115E	G	-	2	0	DMC1	37281343	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.795000	0.69074	2.873000	0.98535	0.563000	0.77884	GGA	DMC1	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase		0.308	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2	C	NM_007068		38951397	-1	no_errors	ENST00000216024	ensembl	human	known	70_37	missense	SNP	1.000	T
DMWD	1762	genome.wustl.edu	37	19	46289752	46289752	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:46289752C>G	ENST00000270223.6	-	3	1047	c.1002G>C	c.(1000-1002)tgG>tgC	p.W334C	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.W334C|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	334										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGTCAGGGCTCCAGCACACAC	0.647																																																	0													60.0	62.0	61.0					19																	46289752		2203	4300	6503	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1002G>C	19.37:g.46289752C>G	ENSP00000270223:p.Trp334Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W334C	ENST00000270223.6	37	c.1002	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102900	0.56183	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.66280	-0.2;-0.2	3.81	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.162877	0.44097	D	0.000484	T	0.78641	0.4315	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.80032	-0.1552	10	0.87932	D	0	-14.0418	9.1988	0.37244	0.0:0.8903:0.0:0.1097	.	19;334;334	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	C	334	ENSP00000366964:W334C;ENSP00000270223:W334C	ENSP00000270223:W334C	W	-	3	0	DMWD	50981592	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.840000	0.69402	0.979000	0.38497	0.462000	0.41574	TGG	DMWD	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.647	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	C	NM_004943		46289752	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	missense	SNP	1.000	G
DMXL1	1657	genome.wustl.edu	37	5	118584139	118584139	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:118584139G>C	ENST00000311085.8	+	0	10389				DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTGATTCAGAATTATAGAA	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.*1225G>C	5.37:g.118584139G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000311085.8	37	NULL	CCDS4125.1	5																																																																																			DMXL1	-	-		0.289	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	G	NM_005509		118584139	+1	no_errors	ENST00000505312	ensembl	human	known	70_37	rna	SNP	0.999	C
DNAH10	196385	genome.wustl.edu	37	12	124371818	124371818	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:124371818G>A	ENST00000409039.3	+	51	8624	c.8599G>A	c.(8599-8601)Gag>Aag	p.E2867K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2867	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATGTGGCTGAGGAGGGCTT	0.542																																																	0													46.0	48.0	47.0					12																	124371818		1994	4162	6156	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8599G>A	12.37:g.124371818G>A	ENSP00000386770:p.Glu2867Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.E2867K	ENST00000409039.3	37	c.8599	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	36	5.613082	0.96637	.	.	ENSG00000197653	ENST00000409039	T	0.39997	1.05	5.02	5.02	0.67125	Dynein heavy chain, P-loop containing D4 domain (1);	0.076926	0.52532	U	0.000078	T	0.60907	0.2305	M	0.64676	1.99	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	T	0.62383	-0.6866	10	0.56958	D	0.05	.	18.511	0.90916	0.0:0.0:1.0:0.0	.	2867	Q8IVF4	DYH10_HUMAN	K	2867	ENSP00000386770:E2867K	ENSP00000386770:E2867K	E	+	1	0	DNAH10	122937771	1.000000	0.71417	0.964000	0.40570	0.896000	0.52359	9.657000	0.98554	2.602000	0.87976	0.591000	0.81541	GAG	DNAH10	-	NULL		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124371818	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225445752	225445752	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:225445752G>A	ENST00000445597.2	+	31	5584				DNAH14_ENST00000439375.2_Missense_Mutation_p.R2313K|DNAH14_ENST00000430092.1_Missense_Mutation_p.R2313K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ACCGCTACCAGAGACACAACA	0.353																																																	0													179.0	159.0	165.0					1																	225445752		692	1590	2282	SO:0001627	intron_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.5584+5633G>A	1.37:g.225445752G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.R2313K	ENST00000445597.2	37	c.6938		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.926|3.926	-0.017239|-0.017239	0.07681|0.07681	.|.	.|.	ENSG00000185842|ENSG00000185842	ENST00000450490|ENST00000430092;ENST00000439375	.|T;T	.|0.29397	.|1.57;1.57	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|.	.|.	.|.	.|.	T|T	0.35970|0.35970	0.0950|0.0950	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.72625	.|0.978	T|T	0.05869|0.05869	-1.0859|-1.0859	5|9	.|0.05959	.|T	.|0.93	.|.	13.0292|13.0292	0.58833|0.58833	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2313	.|Q0VDD8-4	.|.	K|K	85|2313	.|ENSP00000414402:R2313K;ENSP00000392061:R2313K	.|ENSP00000414402:R2313K	E|R	+|+	1|2	0|0	DNAH14|DNAH14	223512375|223512375	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.063000|0.063000	0.16089|0.16089	2.984000|2.984000	0.49353|0.49353	2.327000|2.327000	0.79052|0.79052	0.603000|0.603000	0.83216|0.83216	GAG|AGA	DNAH14	-	NULL		0.353	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	G	XM_059166		225445752	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13771068	13771068	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:13771068G>A	ENST00000265104.4	-	56	9499	c.9395C>T	c.(9394-9396)tCc>tTc	p.S3132F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3132	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATATCATAGGAAGTGAGGAA	0.388									Kartagener syndrome																																								0													67.0	64.0	65.0					5																	13771068		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9395C>T	5.37:g.13771068G>A	ENSP00000265104:p.Ser3132Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3132F	ENST00000265104.4	37	c.9395	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186673	0.57909	.	.	ENSG00000039139	ENST00000265104	T	0.44482	0.92	5.71	5.71	0.89125	Dynein heavy chain, P-loop containing D4 domain (1);	0.237751	0.43919	D	0.000518	T	0.61726	0.2370	M	0.74546	2.27	0.49483	D	0.999795	P	0.36110	0.537	P	0.49361	0.608	T	0.62511	-0.6839	10	0.72032	D	0.01	.	19.8603	0.96781	0.0:0.0:1.0:0.0	.	3132	Q8TE73	DYH5_HUMAN	F	3132	ENSP00000265104:S3132F	ENSP00000265104:S3132F	S	-	2	0	DNAH5	13824068	0.988000	0.35896	0.992000	0.48379	0.454000	0.32378	3.923000	0.56469	2.681000	0.91329	0.655000	0.94253	TCC	DNAH5	-	NULL		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13771068	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.998	A
DNAH5	1767	genome.wustl.edu	37	5	13922308	13922308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:13922308G>A	ENST00000265104.4	-	5	672	c.568C>T	c.(568-570)Cag>Tag	p.Q190*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	190	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGCGTCCTGAAGGCCCTCG	0.577									Kartagener syndrome																																								0													81.0	72.0	75.0					5																	13922308		2203	4300	6503	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.568C>T	5.37:g.13922308G>A	ENSP00000265104:p.Gln190*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q190*	ENST00000265104.4	37	c.568	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	19.49	3.838046	0.71373	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.55	5.55	0.83447	.	0.287055	0.33792	N	0.004548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.7619	0.62971	0.0736:0.0:0.9264:0.0	.	.	.	.	X	190	.	ENSP00000265104:Q190X	Q	-	1	0	DNAH5	13975308	1.000000	0.71417	0.071000	0.20095	0.109000	0.19521	5.134000	0.64770	2.610000	0.88304	0.561000	0.74099	CAG	DNAH5	-	NULL		0.577	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13922308	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	nonsense	SNP	0.112	A
DNAH7	56171	genome.wustl.edu	37	2	196642523	196642523	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:196642523C>G	ENST00000312428.6	-	59	11165		c.e59+1		DNAH7_ENST00000409063.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCATACTTACATCACCAGAA	0.343																																																	0													108.0	100.0	102.0					2																	196642523		1921	4117	6038	SO:0001630	splice_region_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11064+1G>C	2.37:g.196642523C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	-	e59+1	ENST00000312428.6	37	c.11064+1	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126449	0.77549	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196350768	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.522000	0.73783	2.583000	0.87209	0.655000	0.94253	.	DNAH7	-	-		0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	C	NM_018897	Intron	196642523	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	splice_site	SNP	1.000	G
DNAH8	1769	genome.wustl.edu	37	6	38709540	38709540	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:38709540C>G	ENST00000359357.3	+	6	773	c.519C>G	c.(517-519)ctC>ctG	p.L173L	DNAH8_ENST00000441566.1_Silent_p.L173L|RN7SL465P_ENST00000468411.2_RNA|DNAH8_ENST00000449981.2_Silent_p.L390L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	173					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGGTCCACTCACTGAATTGG	0.368																																																	0													112.0	99.0	103.0					6																	38709540		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.519C>G	6.37:g.38709540C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L173	ENST00000359357.3	37	c.519		6																																																																																			DNAH8	-	pfam_Dynein_heavy_dom-1		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38709540	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	silent	SNP	0.992	G
DNAH8	1769	genome.wustl.edu	37	6	38850715	38850715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:38850715C>T	ENST00000359357.3	+	52	7491	c.7237C>T	c.(7237-7239)Cag>Tag	p.Q2413*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q2377*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q2630*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2413					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAGAAACTTCAGCCTTATTA	0.294																																																	0													92.0	100.0	97.0					6																	38850715		2203	4297	6500	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7237C>T	6.37:g.38850715C>T	ENSP00000352312:p.Gln2413*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q2413*	ENST00000359357.3	37	c.7237		6	.	.	.	.	.	.	.	.	.	.	C	49	15.836912	0.99846	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.87	4.96	0.65561	.	0.511623	0.21231	N	0.077965	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.3665	0.87365	0.0:0.783:0.217:0.0	.	.	.	.	X	2618;2618;2413;2377	.	ENSP00000333363:Q2618X	Q	+	1	0	DNAH8	38958693	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.624000	0.46444	2.775000	0.95449	0.650000	0.86243	CAG	DNAH8	-	NULL		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38850715	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAJC6	9829	genome.wustl.edu	37	1	65858183	65858183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:65858183C>G	ENST00000395325.3	+	12	1524	c.1367C>G	c.(1366-1368)tCa>tGa	p.S456*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.S513*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.S443*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	456					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGTGAGCAATCAGATGATGAA	0.488																																																	0													64.0	59.0	60.0					1																	65858183		2203	4300	6503	SO:0001587	stop_gained	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1367C>G	1.37:g.65858183C>G	ENSP00000378735:p.Ser456*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.S513*	ENST00000395325.3	37	c.1538	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.070230	0.97256	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	443;456;513	.	ENSP00000263441:S443X	S	+	2	0	DNAJC6	65630771	1.000000	0.71417	0.571000	0.28486	0.069000	0.16628	7.095000	0.76952	2.941000	0.99782	0.655000	0.94253	TCA	DNAJC6	-	NULL		0.488	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	C			65858183	+1	no_errors	ENST00000371069	ensembl	human	known	70_37	nonsense	SNP	0.999	G
DNHD1	144132	genome.wustl.edu	37	11	6568297	6568297	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6568297G>A	ENST00000527990.2	+	19	6128	c.6128G>A	c.(6127-6129)gGa>gAa	p.G2043E	DNHD1_ENST00000254579.6_Missense_Mutation_p.G2043E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2043					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGTTCCTGGGATGGCTAGAG	0.582																																																	0													44.0	50.0	48.0					11																	6568297		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6128G>A	11.37:g.6568297G>A	ENSP00000436180:p.Gly2043Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.G2043E	ENST00000527990.2	37	c.6128	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669637	0.67814	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.48836	0.8;0.8	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.73962	2.25	0.48511	D	0.999661	D	0.89917	1.0	D	0.91635	0.999	T	0.73525	-0.3955	10	0.87932	D	0	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	2043	Q96M86	DNHD1_HUMAN	E	2043;2043;334	ENSP00000254579:G2043E;ENSP00000436180:G2043E	ENSP00000254579:G2043E	G	+	2	0	DNHD1	6524873	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.175000	0.71949	2.477000	0.83638	0.655000	0.94253	GGA	DNHD1	-	NULL		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	G	NM_144666		6568297	+1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.998	A
DNMBP	23268	genome.wustl.edu	37	10	101645515	101645515	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:101645515G>C	ENST00000324109.4	-	14	3818	c.3727C>G	c.(3727-3729)Cca>Gca	p.P1243A	DNMBP_ENST00000342239.3_Missense_Mutation_p.P1267A|DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000543621.1_Missense_Mutation_p.P489A|DNMBP_ENST00000540316.1_Missense_Mutation_p.P179A	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1243					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTGGTAGCTGGAAGAGACTCC	0.542																																																	0													36.0	33.0	34.0					10																	101645515		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3727C>G	10.37:g.101645515G>C	ENSP00000315659:p.Pro1243Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.P1267A	ENST00000324109.4	37	c.3799	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818559	0.16607	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.47	5.47	0.80525	.	0.000000	0.45867	D	0.000340	T	0.29288	0.0729	L	0.36672	1.1	0.47245	D	0.999369	B;B;B	0.34255	0.445;0.013;0.445	B;B;B	0.27170	0.077;0.014;0.077	T	0.08534	-1.0717	10	0.08599	T	0.76	-13.9469	15.2016	0.73142	0.0:0.1814:0.8186:0.0	.	1243;489;1267	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	A	1267;1243;489;489;179	ENSP00000344914:P1267A;ENSP00000315659:P1243A;ENSP00000443657:P489A;ENSP00000443573:P179A	ENSP00000315659:P1243A	P	-	1	0	DNMBP	101635505	1.000000	0.71417	0.099000	0.21106	0.846000	0.48090	5.683000	0.68189	2.556000	0.86216	0.561000	0.74099	CCA	DNMBP	-	NULL		0.542	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101645515	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	0.994	C
DNMT3A	1788	genome.wustl.edu	37	2	25469588	25469588	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:25469588C>T	ENST00000264709.3	-	10	1517	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	DNMT3A_ENST00000321117.5_Missense_Mutation_p.D394N|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D171N|DNMT3A_ENST00000380746.4_Missense_Mutation_p.D205N|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	394	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCAGTGTCACTCTCATCG	0.652			"""Mis, F, N, S"""		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													83.0	81.0	82.0					2																	25469588		2203	4299	6502	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1180G>A	2.37:g.25469588C>T	ENSP00000264709:p.Asp394Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.D394N	ENST00000264709.3	37	c.1180	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169167	0.78339	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	4.87	4.87	0.63330	.	0.102660	0.64402	D	0.000004	D	0.92417	0.7593	L	0.33485	1.01	0.80722	D	1	P;B	0.42518	0.782;0.261	B;B	0.37422	0.249;0.036	D	0.91632	0.5319	10	0.27082	T	0.32	-14.5852	15.5438	0.76077	0.0:1.0:0.0:0.0	.	394;205	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	N	205;394;394;171	ENSP00000370122:D205N;ENSP00000324375:D394N;ENSP00000264709:D394N;ENSP00000384237:D171N	ENSP00000264709:D394N	D	-	1	0	DNMT3A	25323092	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.299000	0.78831	2.535000	0.85469	0.655000	0.94253	GAC	DNMT3A	-	NULL		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25469588	-1	no_errors	ENST00000264709	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	128908536	128908536	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:128908536C>G	ENST00000280333.6	+	25	2587	c.2478C>G	c.(2476-2478)ctC>ctG	p.L826L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	826					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AATTCATCCTCAATGTTCCCA	0.418																																																	0													94.0	93.0	93.0					10																	128908536		1926	4141	6067	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2478C>G	10.37:g.128908536C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.L826	ENST00000280333.6	37	c.2478		10																																																																																			DOCK1	-	superfamily_ARM-type_fold		0.418	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		128908536	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	silent	SNP	0.147	G
DOCK11	139818	genome.wustl.edu	37	X	117817118	117817118	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117817118G>C	ENST00000276202.7	+	52	6103	c.6040G>C	c.(6040-6042)Gaa>Caa	p.E2014Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E2014Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2014	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAGTACCATGAAGGGCTAAA	0.353																																																	0													107.0	102.0	104.0					X																	117817118		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6040G>C	X.37:g.117817118G>C	ENSP00000276202:p.Glu2014Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E2014Q	ENST00000276202.7	37	c.6040	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758323	0.89843	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18657	2.2;2.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.64170	1.965	0.58432	D	0.999999	D;D	0.57571	0.98;0.98	D;D	0.63793	0.918;0.918	T	0.08743	-1.0707	10	0.40728	T	0.16	-7.5977	18.136	0.89619	0.0:0.0:1.0:0.0	.	2014;2014	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	2014	ENSP00000276204:E2014Q;ENSP00000276202:E2014Q	ENSP00000276202:E2014Q	E	+	1	0	DOCK11	117701146	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.377000	0.97184	2.506000	0.84524	0.600000	0.82982	GAA	DOCK11	-	pfam_DOCK_C		0.353	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117817118	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK6	57572	genome.wustl.edu	37	19	11322793	11322793	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11322793G>C	ENST00000294618.7	-	36	4537	c.4526C>G	c.(4525-4527)tCt>tGt	p.S1509C	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.S848C	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1509					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGACGAGAGAGACATGGTGAC	0.597																																																	0													41.0	41.0	41.0					19																	11322793		2051	4184	6235	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4526C>G	19.37:g.11322793G>C	ENSP00000294618:p.Ser1509Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.S1509C	ENST00000294618.7	37	c.4526	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127683	0.77549	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02032	4.49;4.49	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.971	T	0.02917	-1.1094	10	0.87932	D	0	-13.1487	16.6899	0.85318	0.0:0.0:1.0:0.0	.	848;1509	C9IZV6;Q96HP0	.;DOCK6_HUMAN	C	1509;848	ENSP00000294618:S1509C;ENSP00000321556:S848C	ENSP00000294618:S1509C	S	-	2	0	DOCK6	11183793	1.000000	0.71417	0.932000	0.37286	0.610000	0.37248	9.573000	0.98181	2.307000	0.77673	0.655000	0.94253	TCT	DOCK6	-	NULL		0.597	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	G	NM_020812		11322793	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK7	85440	genome.wustl.edu	37	1	63001290	63001290	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:63001290G>T	ENST00000340370.5	-	28	3409	c.3392C>A	c.(3391-3393)tCt>tAt	p.S1131Y	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1162Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1162					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATTCGTAGAAAATCCAGA	0.393																																																	0													84.0	77.0	79.0					1																	63001290		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3392C>A	1.37:g.63001290G>T	ENSP00000340742:p.Ser1131Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.S1162Y	ENST00000340370.5	37	c.3485	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.405673|4.405673	0.83230|0.83230	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370	T|T;T	0.24723|0.26518	1.84|1.73;1.73	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|P;D;D;D;P	.|0.89917	.|0.589;1.0;1.0;0.997;0.746	.|B;D;D;D;P	.|0.91635	.|0.439;0.999;0.999;0.956;0.661	T|T	0.30031|0.30031	-0.9992|-0.9992	7|10	0.11485|0.45353	T|T	0.65|0.12	.|.	18.5985|18.5985	0.91239|0.91239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1162;1131;1131;1131;1162	.|Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|.;.;.;.;.	L|Y	333|1162;1162;1131	ENSP00000413583:F333L|ENSP00000251157:S1162Y;ENSP00000340742:S1131Y	ENSP00000413583:F333L|ENSP00000251157:S1162Y	F|S	-|-	3|2	2|0	DOCK7|DOCK7	62773878|62773878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	9.652000|9.652000	0.98499|0.98499	2.616000|2.616000	0.88540|0.88540	0.650000|0.650000	0.86243|0.86243	TTC|TCT	DOCK7	-	NULL		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	G	NM_033407		63001290	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK8	81704	genome.wustl.edu	37	9	414809	414809	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:414809C>T	ENST00000453981.1	+	29	3670	c.3558C>T	c.(3556-3558)gtC>gtT	p.V1186V	DOCK8_ENST00000469391.1_Silent_p.V1086V|DOCK8_ENST00000382329.1_Silent_p.V653V|DOCK8_ENST00000432829.2_Silent_p.V1118V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1186					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAGCTGTCAGTGCAATTC	0.453																																																	0													267.0	269.0	268.0					9																	414809		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3558C>T	9.37:g.414809C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.V1186	ENST00000453981.1	37	c.3558	CCDS6440.2	9																																																																																			DOCK8	-	NULL		0.453	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	C	XM_036307		414809	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	silent	SNP	1.000	T
DOCK9	23348	genome.wustl.edu	37	13	99537987	99537987	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:99537987C>T	ENST00000376460.1	-	20	2315	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	DOCK9_ENST00000448493.2_Silent_p.K757K|DOCK9_ENST00000339416.2_Silent_p.K746K|DOCK9_ENST00000442173.1_Silent_p.K745K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	746	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCCCTCTTCTTCGTGCTTC	0.398																																																	0													118.0	121.0	120.0					13																	99537987		1879	4113	5992	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2235G>A	13.37:g.99537987C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K746	ENST00000376460.1	37	c.2238	CCDS45062.1	13																																																																																			DOCK9	-	NULL		0.398	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	C	NM_015296		99537987	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	silent	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83847173	83847173	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:83847173C>G	ENST00000349129.2	+	21	3672	c.3412C>G	c.(3412-3414)Caa>Gaa	p.Q1138E	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1129E|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1119E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1138					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAGGATTCTCAAATGCCCAA	0.453																																																	0													66.0	66.0	66.0					6																	83847173		2203	4299	6502	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3412C>G	6.37:g.83847173C>G	ENSP00000195654:p.Gln1138Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.Q1138E	ENST00000349129.2	37	c.3412	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	3.272	-0.148958	0.06585	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21932	1.98;1.98	5.69	5.69	0.88448	.	0.359515	0.33199	N	0.005161	T	0.06280	0.0162	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.14924	-1.0455	10	0.02654	T	1	.	19.8089	0.96540	0.0:1.0:0.0:0.0	.	1029;1129;1138	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	E	1138;1119;1119	ENSP00000195654:Q1138E;ENSP00000237163:Q1119E	ENSP00000237163:Q1119E	Q	+	1	0	DOPEY1	83903892	0.970000	0.33590	0.827000	0.32855	0.708000	0.40852	3.201000	0.51059	2.677000	0.91161	0.460000	0.39030	CAA	DOPEY1	-	superfamily_ARM-type_fold		0.453	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83847173	+1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	0.986	G
DPP8	54878	genome.wustl.edu	37	15	65743243	65743243	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:65743243C>G	ENST00000341861.5	-	19	4155				DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000300141.6_Intron|DPP8_ENST00000358939.4_Intron|DPP8_ENST00000321147.6_Intron|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000559233.1_Intron|DPP8_ENST00000321118.7_Intron	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8						immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGACACTCTAAAAATCTG	0.358																																																	0																																										SO:0001627	intron_variant	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2574+93G>C	15.37:g.65743243C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	RNA	SNP	-	NULL	ENST00000341861.5	37	NULL	CCDS10207.1	15																																																																																			DPP8	-	-		0.358	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	C	NM_017743		65743243	-1	no_errors	ENST00000560048	ensembl	human	known	70_37	rna	SNP	0.001	G
DPY19L3	147991	genome.wustl.edu	37	19	32949288	32949288	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:32949288G>C	ENST00000342179.5	+	12	1410	c.1195G>C	c.(1195-1197)Gaa>Caa	p.E399Q	DPY19L3_ENST00000586987.1_Missense_Mutation_p.E399Q|DPY19L3_ENST00000392250.2_Missense_Mutation_p.E399Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	399						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCTGTGTGAAGAAGCTTTTGG	0.358																																																	0													129.0	130.0	129.0					19																	32949288		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1195G>C	19.37:g.32949288G>C	ENSP00000344937:p.Glu399Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.E399Q	ENST00000342179.5	37	c.1195	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728967	0.89390	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56103	0.48;0.48	6.04	6.04	0.98038	.	0.099300	0.64402	D	0.000002	T	0.71710	0.3372	M	0.75264	2.295	0.47441	D	0.999427	D	0.64830	0.994	D	0.63793	0.918	T	0.64618	-0.6365	10	0.24483	T	0.36	-12.1141	20.6396	0.99537	0.0:0.0:1.0:0.0	.	399	Q6ZPD9	D19L3_HUMAN	Q	399	ENSP00000376081:E399Q;ENSP00000344937:E399Q	ENSP00000315672:E399Q	E	+	1	0	DPY19L3	37641128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.470000	0.90399	2.881000	0.98747	0.650000	0.86243	GAA	DPY19L3	-	pfam_Dpy-19		0.358	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	G	NM_207325		32949288	+1	no_errors	ENST00000342179	ensembl	human	known	70_37	missense	SNP	1.000	C
DRD1	1812	genome.wustl.edu	37	5	174870004	174870004	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:174870004G>C	ENST00000393752.2	-	2	1091	c.99C>G	c.(97-99)ctC>ctG	p.L33L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	33					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGACAGGATGAGCAGCGACA	0.572																																																	0													108.0	102.0	104.0					5																	174870004		2203	4300	6503	SO:0001819	synonymous_variant	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.99C>G	5.37:g.174870004G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA44|Q4QRJ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt	p.L33	ENST00000393752.2	37	c.99	CCDS4393.1	5																																																																																			DRD1	-	prints_GPCR_Rhodpsn		0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	G	NM_000794		174870004	-1	no_errors	ENST00000329144	ensembl	human	known	70_37	silent	SNP	0.994	C
RIPPLY3	53820	genome.wustl.edu	37	21	38380494	38380494	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:38380494G>C	ENST00000329553.2	+	2	352	c.142G>C	c.(142-144)Gat>Cat	p.D48H	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	48					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GACACCTGGAGATGCTGAGCT	0.577																																																	0													52.0	51.0	51.0					21																	38380494		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.142G>C	21.37:g.38380494G>C	ENSP00000331734:p.Asp48His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.D48H	ENST00000329553.2	37	c.142	CCDS13648.1	21	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193046	0.58017	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.6	4.6	0.57074	.	0.596717	0.14832	N	0.295829	T	0.64516	0.2605	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.56625	-0.7948	9	0.72032	D	0.01	-2.9933	13.6581	0.62349	0.0:0.0:1.0:0.0	.	48	P57055	DSCR6_HUMAN	H	48	.	ENSP00000331734:D48H	D	+	1	0	DSCR6	37302364	0.182000	0.23173	0.011000	0.14972	0.048000	0.14542	4.113000	0.57851	2.513000	0.84729	0.561000	0.74099	GAT	DSCR6	-	NULL		0.577	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR6	HGNC	protein_coding	OTTHUMT00000194703.1	G			38380494	+1	no_errors	ENST00000329553	ensembl	human	known	70_37	missense	SNP	0.038	C
DSG4	147409	genome.wustl.edu	37	18	28991345	28991345	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:28991345G>A	ENST00000308128.4	+	15	2424	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	DSG4_ENST00000359747.4_Missense_Mutation_p.M782I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	763					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTCTACCATGGGAACCCTGC	0.587																																																	0													58.0	56.0	57.0					18																	28991345		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2289G>A	18.37:g.28991345G>A	ENSP00000311859:p.Met763Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.M782I	ENST00000308128.4	37	c.2346	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	8.877	0.950639	0.18431	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52983	0.64;0.64	5.97	-4.21	0.03812	.	1.030210	0.07789	N	0.954688	T	0.24160	0.0585	N	0.03115	-0.41	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.19418	-1.0306	10	0.35671	T	0.21	.	13.8755	0.63651	0.597:0.0:0.403:0.0	.	782;763	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	763;782	ENSP00000311859:M763I;ENSP00000352785:M782I	ENSP00000311859:M763I	M	+	3	0	DSG4	27245343	0.022000	0.18835	0.008000	0.14137	0.537000	0.34900	-0.089000	0.11180	-0.691000	0.05135	0.655000	0.94253	ATG	DSG4	-	NULL		0.587	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	G	NM_177986		28991345	+1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	0.005	A
DSP	1832	genome.wustl.edu	37	6	7580249	7580249	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:7580249C>G	ENST00000379802.3	+	23	4167	c.3826C>G	c.(3826-3828)Cag>Gag	p.Q1276E	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1276	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACGCCCTTCAGCAAAAGGC	0.512																																																	0													67.0	68.0	68.0					6																	7580249		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3826C>G	6.37:g.7580249C>G	ENSP00000369129:p.Gln1276Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1276E	ENST00000379802.3	37	c.3826	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201669	0.58234	.	.	ENSG00000096696	ENST00000379802	D	0.93019	-3.15	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000039	D	0.92857	0.7728	L	0.55990	1.75	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	D	0.90979	0.4826	10	0.07175	T	0.84	.	18.2596	0.90030	0.0:1.0:0.0:0.0	.	1276	P15924	DESP_HUMAN	E	1276	ENSP00000369129:Q1276E	ENSP00000369129:Q1276E	Q	+	1	0	DSP	7525248	0.997000	0.39634	0.980000	0.43619	0.947000	0.59692	3.576000	0.53878	2.411000	0.81874	0.557000	0.71058	CAG	DSP	-	NULL		0.512	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7580249	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	0.999	G
DSPP	1834	genome.wustl.edu	37	4	88534379	88534379	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88534379C>G	ENST00000282478.7	+	3	1074	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.L347L			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	347					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CCCAGAAGCTCAACCATAGAG	0.423																																																	0													38.0	38.0	38.0					4																	88534379		1892	4113	6005	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1041C>G	4.37:g.88534379C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUI0|O95815	Silent	SNP	NULL	p.L347	ENST00000282478.7	37	c.1041	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.423	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	C	NM_014208		88534379	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.000	G
DST	667	genome.wustl.edu	37	6	56469153	56469153	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:56469153C>G	ENST00000361203.3	-	36	9647	c.9640G>C	c.(9640-9642)Gaa>Caa	p.E3214Q	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E3214Q|DST_ENST00000370754.5_Missense_Mutation_p.E3392Q|DST_ENST00000370769.4_Missense_Mutation_p.E3214Q|DST_ENST00000446842.2_Missense_Mutation_p.E2888Q|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3214					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)			GGCTTTAGTTCTGATGAGTTA	0.398																																																	0													35.0	34.0	34.0					6																	56469153		1840	4085	5925	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.9640G>C	6.37:g.56469153C>G	ENSP00000354508:p.Glu3214Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E3392Q	ENST00000361203.3	37	c.10174		6	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356971	0.24598	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.83673	-0.29;-0.31;0.63;-1.75;-0.31;-0.51	5.1	3.32	0.38043	.	1.303370	0.05374	N	0.536013	T	0.71333	0.3327	.	.	.	0.26105	N	0.980766	P	0.47677	0.899	P	0.48227	0.571	T	0.58983	-0.7539	8	0.56958	D	0.05	.	3.5358	0.07793	0.1356:0.5762:0.132:0.1562	.	2888	Q03001-9	.	Q	3392;3214;2888;3214;3214;2888	ENSP00000359790:E3392Q;ENSP00000359805:E3214Q;ENSP00000393645:E2888Q;ENSP00000307959:E3214Q;ENSP00000354508:E3214Q;ENSP00000404924:E2888Q	ENSP00000307959:E3214Q	E	-	1	0	DST	56577112	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	0.225000	0.17757	0.557000	0.29117	0.655000	0.94253	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56469153	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.002	G
DST	667	genome.wustl.edu	37	6	56469891	56469891	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:56469891C>G	ENST00000361203.3	-	36	8909	c.8902G>C	c.(8902-8904)Gat>Cat	p.D2968H	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D2968H|DST_ENST00000370754.5_Missense_Mutation_p.D3146H|DST_ENST00000370769.4_Missense_Mutation_p.D2968H|DST_ENST00000446842.2_Missense_Mutation_p.D2642H|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2968					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)			GTAAACAGATCAAGCTCTTTC	0.368																																																	0													63.0	61.0	62.0					6																	56469891		1876	4109	5985	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.8902G>C	6.37:g.56469891C>G	ENSP00000354508:p.Asp2968His	Somatic		WXS	Illumina HiSeq	Phase_IV	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.D3146H	ENST00000361203.3	37	c.9436		6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375032	0.82682	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82984	-0.21;-0.21;0.73;-1.67;-0.23;-0.44	5.79	3.98	0.46160	.	0.508796	0.17892	N	0.158485	T	0.79986	0.4541	.	.	.	0.24531	N	0.994118	D	0.61697	0.99	P	0.53593	0.73	T	0.79952	-0.1586	8	0.66056	D	0.02	.	8.8074	0.34945	0.0:0.7351:0.1259:0.139	.	2642	Q03001-9	.	H	3146;2968;2642;2968;2968;2642	ENSP00000359790:D3146H;ENSP00000359805:D2968H;ENSP00000393645:D2642H;ENSP00000307959:D2968H;ENSP00000354508:D2968H;ENSP00000404924:D2642H	ENSP00000307959:D2968H	D	-	1	0	DST	56577850	0.001000	0.12720	0.003000	0.11579	0.984000	0.73092	0.454000	0.21827	0.764000	0.33197	0.655000	0.94253	GAT	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56469891	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.008	G
DST	667	genome.wustl.edu	37	6	56469903	56469903	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:56469903C>T	ENST00000361203.3	-	36	8897	c.8890G>A	c.(8890-8892)Gag>Aag	p.E2964K	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E2964K|DST_ENST00000370754.5_Missense_Mutation_p.E3142K|DST_ENST00000370769.4_Missense_Mutation_p.E2964K|DST_ENST00000446842.2_Missense_Mutation_p.E2638K|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2964					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)			AGCTCTTTCTCAGGTCCATCA	0.363																																																	0													61.0	59.0	59.0					6																	56469903		1884	4107	5991	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.8890G>A	6.37:g.56469903C>T	ENSP00000354508:p.Glu2964Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E3142K	ENST00000361203.3	37	c.9424		6	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789938	0.70337	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81996	-0.13;-0.14;0.8;-1.56;-0.13;-0.27	5.79	3.99	0.46301	.	0.669674	0.13550	N	0.379586	T	0.62122	0.2402	.	.	.	0.27888	N	0.939445	B	0.23806	0.091	B	0.19946	0.027	T	0.55717	-0.8097	8	0.59425	D	0.04	.	8.6275	0.33899	0.0:0.7321:0.1278:0.14	.	2638	Q03001-9	.	K	3142;2964;2638;2964;2964;2638	ENSP00000359790:E3142K;ENSP00000359805:E2964K;ENSP00000393645:E2638K;ENSP00000307959:E2964K;ENSP00000354508:E2964K;ENSP00000404924:E2638K	ENSP00000307959:E2964K	E	-	1	0	DST	56577862	0.011000	0.17503	0.001000	0.08648	0.951000	0.60555	1.093000	0.30939	0.778000	0.33520	0.655000	0.94253	GAG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56469903	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.004	T
DUOX2	50506	genome.wustl.edu	37	15	45393432	45393432	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:45393432G>C	ENST00000603300.1	-	22	3094	c.2892C>G	c.(2890-2892)gtC>gtG	p.V964V	DUOX2_ENST00000389039.6_Silent_p.V964V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	964	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGATGAACGAGACTCGACAGC	0.542																																																	0													51.0	50.0	51.0					15																	45393432		2198	4298	6496	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2892C>G	15.37:g.45393432G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.V964	ENST00000603300.1	37	c.2892	CCDS10117.1	15																																																																																			DUOX2	-	NULL		0.542	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		G	NM_014080		45393432	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	silent	SNP	0.998	C
DUS3L	56931	genome.wustl.edu	37	19	5785241	5785241	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5785241C>T	ENST00000309061.7	-	13	2022	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P	DUS3L_ENST00000320699.8_Silent_p.P400P|PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	642							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCTTGTGCTTCGGCAAGAAGG	0.567																																																	0													28.0	27.0	27.0					19																	5785241		2196	4293	6489	SO:0001819	synonymous_variant	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1926G>A	19.37:g.5785241C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	pfam_tRNA_hU_synthase	p.P642	ENST00000309061.7	37	c.1926	CCDS32880.1	19																																																																																			DUS3L	-	NULL		0.567	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5785241	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	silent	SNP	0.886	T
DUSP27	92235	genome.wustl.edu	37	1	167095628	167095628	+	Missense_Mutation	SNP	G	G	C	rs373269072		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:167095628G>C	ENST00000361200.2	+	6	1426	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E420D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E420D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	420					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						aggaggaggagAGCGACGCTG	0.657																																																	0								G	ASP/GLU	1,4347		0,1,2173	28.0	20.0	23.0		1260	1.6	0.0	1		23	0,8526		0,0,4263	no	missense	DUSP27	NM_001080426.1	45	0,1,6436	CC,CG,GG		0.0,0.023,0.0078	benign	420/1159	167095628	1,12873	2174	4263	6437	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1260G>C	1.37:g.167095628G>C	ENSP00000354483:p.Glu420Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E420D	ENST00000361200.2	37	c.1260	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.116050	0.08831	2.3E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04156	3.69;3.69;3.69	4.64	1.61	0.23674	.	4.460340	0.00465	N	0.000115	T	0.01421	0.0046	L	0.27053	0.805	0.19775	N	0.999953	B	0.09022	0.002	B	0.10450	0.005	T	0.44528	-0.9322	10	0.34782	T	0.22	-3.9346	7.6283	0.28224	0.0:0.2557:0.3035:0.4408	.	420	Q5VZP5	DUS27_HUMAN	D	420	ENSP00000354483:E420D;ENSP00000271385:E420D;ENSP00000404874:E420D	ENSP00000271385:E420D	E	+	3	2	DUSP27	165362252	0.313000	0.24554	0.021000	0.16686	0.050000	0.14768	1.030000	0.30153	0.148000	0.19059	-0.228000	0.12330	GAG	DUSP27	-	NULL		0.657	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167095628	+1	no_errors	ENST00000271385	ensembl	human	known	70_37	missense	SNP	0.007	C
DYNC1H1	1778	genome.wustl.edu	37	14	102467326	102467326	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:102467326G>C	ENST00000360184.4	+	19	4274	c.4110G>C	c.(4108-4110)ctG>ctC	p.L1370L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1370	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAACCAGCTGAAAAGCTTCC	0.448																																																	0													133.0	138.0	136.0					14																	102467326		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4110G>C	14.37:g.102467326G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L1370	ENST00000360184.4	37	c.4110	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-2		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102467326	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	C
EBF3	253738	genome.wustl.edu	37	10	131639260	131639260	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:131639260C>T	ENST00000355311.5	-	14	1481	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.R461Q			Q9H4W6	COE3_HUMAN	early B-cell factor 3	470	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R461Q(1)|p.R470Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GACGTAGCCTCGCGGGGACAC	0.552																																																	2	Substitution - Missense(2)	lung(2)											152.0	140.0	144.0					10																	131639260		2203	4300	6503	SO:0001583	missense	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1409G>A	10.37:g.131639260C>T	ENSP00000347463:p.Arg470Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.R470Q	ENST00000355311.5	37	c.1409		10	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616512	0.66672	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.53423	0.62;0.62	4.81	3.91	0.45181	.	0.064885	0.64402	D	0.000005	T	0.56108	0.1963	M	0.73962	2.25	0.58432	D	0.999991	P	0.45176	0.852	P	0.47864	0.559	T	0.62576	-0.6825	10	0.62326	D	0.03	-0.3601	13.2433	0.60010	0.0:0.9237:0.0:0.0763	.	461	Q9H4W6-2	.	Q	470;461	ENSP00000347463:R470Q;ENSP00000357637:R461Q	ENSP00000347463:R470Q	R	-	2	0	EBF3	131529250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.879000	0.56138	1.245000	0.43885	0.655000	0.94253	CGA	EBF3	-	NULL		0.552	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	C	NM_001005463		131639260	-1	no_errors	ENST00000355311	ensembl	human	known	70_37	missense	SNP	1.000	T
EEA1	8411	genome.wustl.edu	37	12	93226593	93226593	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:93226593C>T	ENST00000322349.8	-	11	1213	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	317					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTAGTATAGTCTTGTTCTTTT	0.289																																																	0													66.0	64.0	64.0					12																	93226593		2203	4298	6501	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.949G>A	12.37:g.93226593C>T	ENSP00000317955:p.Asp317Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.D317N	ENST00000322349.8	37	c.949	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738435	0.69304	.	.	ENSG00000102189	ENST00000322349	D	0.82893	-1.66	5.7	5.7	0.88788	.	0.220941	0.30762	N	0.008929	T	0.76593	0.4009	L	0.29908	0.895	0.58432	D	0.999996	P	0.34562	0.457	B	0.32624	0.149	T	0.74016	-0.3800	10	0.33141	T	0.24	.	19.8321	0.96640	0.0:1.0:0.0:0.0	.	317	Q15075	EEA1_HUMAN	N	317	ENSP00000317955:D317N	ENSP00000317955:D317N	D	-	1	0	EEA1	91750724	1.000000	0.71417	0.117000	0.21633	0.877000	0.50540	6.592000	0.74095	2.685000	0.91497	0.655000	0.94253	GAC	EEA1	-	NULL		0.289	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	C	NM_003566		93226593	-1	no_errors	ENST00000322349	ensembl	human	known	70_37	missense	SNP	0.992	T
EFNB1	1947	genome.wustl.edu	37	X	68059873	68059873	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:68059873G>A	ENST00000204961.4	+	4	1350	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	190					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ACACTGTCAAGATGGCCACAC	0.567																																																	0													60.0	55.0	57.0					X																	68059873		2203	4299	6502	SO:0001819	synonymous_variant	1947			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.570G>A	X.37:g.68059873G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.K190	ENST00000204961.4	37	c.570	CCDS14391.1	X																																																																																			EFNB1	-	NULL		0.567	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1	G	NM_004429		68059873	+1	no_errors	ENST00000204961	ensembl	human	known	70_37	silent	SNP	0.270	A
EHHADH	1962	genome.wustl.edu	37	3	184935936	184935936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184935936G>A	ENST00000231887.3	-	5	631	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	EHHADH_ENST00000475987.1_5'Flank|EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Q90*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	186	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GAAACTCTCTGAGCAAATCTG	0.393																																																	0													137.0	138.0	138.0					3																	184935936		2203	4300	6503	SO:0001587	stop_gained	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.556C>T	3.37:g.184935936G>A	ENSP00000231887:p.Gln186*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.Q186*	ENST00000231887.3	37	c.556	CCDS33901.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.715454	0.96830	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	.	.	.	5.9	3.97	0.46021	.	0.450397	0.23865	N	0.043804	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-15.1717	10.4386	0.44450	0.0:0.1344:0.7119:0.1537	.	.	.	.	X	186;186;90	.	ENSP00000231887:Q186X	Q	-	1	0	EHHADH	186418630	0.002000	0.14202	0.368000	0.25939	0.777000	0.43975	0.575000	0.23729	2.802000	0.96397	0.650000	0.86243	CAG	EHHADH	-	NULL		0.393	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	G			184935936	-1	no_errors	ENST00000231887	ensembl	human	known	70_37	nonsense	SNP	0.168	A
EIF2AK1	27102	genome.wustl.edu	37	7	6068307	6068307	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:6068307C>G	ENST00000199389.6	-	13	1615	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	ANKRD61_ENST00000409061.1_5'Flank|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.R366T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGTACCCACTCTGGACGTATG	0.403																																																	0													195.0	157.0	170.0					7																	6068307		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1469G>C	7.37:g.6068307C>G	ENSP00000199389:p.Arg490Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R490T	ENST00000199389.6	37	c.1469	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426632	0.25726	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.24151	1.99;1.87	5.28	3.48	0.39840	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170175	0.50627	D	0.000105	T	0.17577	0.0422	L	0.28776	0.89	0.31219	N	0.69772	B;B;B	0.32573	0.376;0.33;0.007	B;B;B	0.33960	0.173;0.086;0.044	T	0.14254	-1.0479	10	0.14656	T	0.56	-6.9668	11.6609	0.51345	0.0:0.8682:0.0:0.1318	.	366;489;490	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	T	490;366;117	ENSP00000199389:R490T;ENSP00000445784:R366T	ENSP00000199389:R490T	R	-	2	0	EIF2AK1	6034833	1.000000	0.71417	0.890000	0.34922	0.991000	0.79684	5.501000	0.66950	0.622000	0.30249	0.550000	0.68814	AGA	EIF2AK1	-	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		0.403	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	C	NM_014413		6068307	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	missense	SNP	1.000	G
AGO3	192669	genome.wustl.edu	37	1	36470034	36470034	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36470034C>G	ENST00000373191.4	+	6	1100	c.751C>G	c.(751-753)Ctg>Gtg	p.L251V	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.L17V	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	251	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										ACCAAGACCTCTGACTGATTC	0.348																																																	0													117.0	110.0	112.0					1																	36470034		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.751C>G	1.37:g.36470034C>G	ENSP00000362287:p.Leu251Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L251V	ENST00000373191.4	37	c.751	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456068	0.63401	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.14893	2.47;2.47	5.56	5.56	0.83823	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.90252	3.1	0.80722	D	1	B	0.15473	0.013	B	0.37422	0.249	T	0.45963	-0.9225	10	0.72032	D	0.01	-7.7848	19.5162	0.95167	0.0:1.0:0.0:0.0	.	251	Q9H9G7	AGO3_HUMAN	V	251;17	ENSP00000362287:L251V;ENSP00000246314:L17V	ENSP00000246314:L17V	L	+	1	2	EIF2C3	36242621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.623000	0.88846	0.460000	0.39030	CTG	EIF2C3	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ		0.348	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	C	NM_024852		36470034	+1	no_errors	ENST00000373191	ensembl	human	known	70_37	missense	SNP	1.000	G
AGO3	192669	genome.wustl.edu	37	1	36479634	36479634	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36479634G>C	ENST00000373191.4	+	11	1740	c.1391G>C	c.(1390-1392)aGa>aCa	p.R464T	RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.R230T	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	464					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)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AGGCAGTGCAGAGAAGAAATA	0.413																																																	0													160.0	154.0	156.0					1																	36479634		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1391G>C	1.37:g.36479634G>C	ENSP00000362287:p.Arg464Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R464T	ENST00000373191.4	37	c.1391	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410936	0.42817	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05580	3.42;3.42	5.65	5.65	0.86999	.	0.047937	0.85682	D	0.000000	T	0.07503	0.0189	L	0.31845	0.965	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38866	-0.9641	10	0.21540	T	0.41	-2.0877	19.7916	0.96461	0.0:0.0:1.0:0.0	.	464	Q9H9G7	AGO3_HUMAN	T	464;230	ENSP00000362287:R464T;ENSP00000246314:R230T	ENSP00000246314:R230T	R	+	2	0	EIF2C3	36252221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.858000	0.99539	2.685000	0.91497	0.650000	0.86243	AGA	EIF2C3	-	NULL		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	G	NM_024852		36479634	+1	no_errors	ENST00000373191	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF3D	8664	genome.wustl.edu	37	22	36915544	36915544	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:36915544C>T	ENST00000216190.8	-	8	989	c.619G>A	c.(619-621)Gac>Aac	p.D207N	EIF3D_ENST00000541106.1_Missense_Mutation_p.D158N|EIF3D_ENST00000405442.1_Missense_Mutation_p.D207N	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGATGCGGTCAAAGGCTTTG	0.527																																																	0													225.0	186.0	199.0					22																	36915544		2203	4300	6503	SO:0001583	missense	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.619G>A	22.37:g.36915544C>T	ENSP00000216190:p.Asp207Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.D207N	ENST00000216190.8	37	c.619	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947424	0.92593	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	5.91	5.91	0.95273	.	0.089349	0.85682	D	0.000000	T	0.76744	0.4030	M	0.76170	2.325	0.80722	D	1	P;P	0.51240	0.943;0.903	P;P	0.55161	0.717;0.77	T	0.77686	-0.2495	9	0.66056	D	0.02	-11.7218	20.2946	0.98546	0.0:1.0:0.0:0.0	.	158;207	B4DVY1;O15371	.;EIF3D_HUMAN	N	207;192;158;207;207	.	ENSP00000216190:D207N	D	-	1	0	EIF3D	35245490	1.000000	0.71417	0.983000	0.44433	0.401000	0.30781	7.419000	0.80179	2.804000	0.96469	0.462000	0.41574	GAC	EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta		0.527	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	C			36915544	-1	no_errors	ENST00000216190	ensembl	human	known	70_37	missense	SNP	0.289	T
EIF4A2	1974	genome.wustl.edu	37	3	186502437	186502437	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186502437G>C	ENST00000323963.5	+	3	224	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.E55Q|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.L5F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	54					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTACGGTTTTGAGAAGCCTTC	0.358			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													119.0	124.0	122.0					3																	186502437		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.160G>C	3.37:g.186502437G>C	ENSP00000326381:p.Glu54Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E55Q	ENST00000323963.5	37	c.163	CCDS3282.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.090050|5.090050	0.94149|0.94149	.|.	.|.	ENSG00000156976|ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191|ENST00000356531	T;T;T|T	0.35605|0.35605	1.3;1.59;1.6|1.3	4.6|4.6	4.6|4.6	0.57074|0.57074	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);|.	0.050694|.	0.85682|.	D|.	0.000000|.	T|T	0.49881|0.49881	0.1583|0.1583	M|M	0.79614|0.79614	2.46|2.46	0.44207|0.44207	D|D	0.997031|0.997031	D;D|P	0.71674|0.50528	0.998;0.985|0.936	D;P|P	0.66196|0.49140	0.942;0.805|0.601	T|T	0.58797|0.58797	-0.7573|-0.7573	10|9	0.87932|0.87932	D|D	0|0	-18.0316|-18.0316	15.292|15.292	0.73872|0.73872	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	55;54|5	Q14240-2;Q14240|Q9NZE6	.;IF4A2_HUMAN|.	Q|F	54;54;54;55|5	ENSP00000415878:E54Q;ENSP00000326381:E54Q;ENSP00000398370:E55Q|ENSP00000348925:L5F	ENSP00000326381:E54Q|ENSP00000348925:L5F	E|L	+|+	1|3	0|2	EIF4A2|EIF4A2	187985131|187985131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.148000|9.148000	0.94652|0.94652	2.547000|2.547000	0.85894|0.85894	0.585000|0.585000	0.79938|0.79938	GAG|TTG	EIF4A2	-	smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.358	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186502437	+1	no_errors	ENST00000440191	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF4G1	1981	genome.wustl.edu	37	3	184045425	184045425	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184045425C>G	ENST00000346169.2	+	25	3984	c.3713C>G	c.(3712-3714)tCt>tGt	p.S1238C	EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1199C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1043C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1245C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1198C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1075C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1245C|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S1239C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1245C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1042C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1151C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1074C|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1152C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1238C	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1238					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGGCTCTCTCTGAGGAGGAG	0.512																																																	0													69.0	76.0	73.0					3																	184045425		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3713C>G	3.37:g.184045425C>G	ENSP00000316879:p.Ser1238Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	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.S1245C	ENST00000346169.2	37	c.3734	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110295	0.56398	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.2	5.2	0.72013	Armadillo-type fold (1);	0.367909	0.31358	N	0.007791	T	0.63628	0.2527	L	0.58810	1.83	0.48975	D	0.999738	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60173	0.87;0.87;0.87	T	0.65569	-0.6136	10	0.66056	D	0.02	-6.7811	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1245;1239;1238	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	C	1238;1198;1151;1245;1074;1245;1152;1239;1238;1245;1199;1075;1043;1042	ENSP00000316879:S1238C;ENSP00000391935:S1198C;ENSP00000376320:S1151C;ENSP00000371767:S1245C;ENSP00000317600:S1074C;ENSP00000338020:S1245C;ENSP00000407682:S1152C;ENSP00000343450:S1239C;ENSP00000323737:S1238C;ENSP00000416255:S1245C;ENSP00000395974:S1199C;ENSP00000399858:S1075C;ENSP00000411826:S1043C;ENSP00000404754:S1042C	ENSP00000323737:S1238C	S	+	2	0	EIF4G1	185528119	0.997000	0.39634	0.911000	0.35937	0.421000	0.31385	3.268000	0.51585	2.691000	0.91804	0.655000	0.94253	TCT	EIF4G1	-	superfamily_ARM-type_fold		0.512	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	C	NM_182917		184045425	+1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	0.981	G
EIF4A2	1974	genome.wustl.edu	37	3	186503748	186503748	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186503748G>C	ENST00000323963.5	+	5	489	c.425G>C	c.(424-426)cGa>cCa	p.R142P	SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.R143P|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.R47P			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	142	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACAAATGTTCGAAATGAAATG	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													95.0	88.0	91.0					3																	186503748		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.425G>C	3.37:g.186503748G>C	ENSP00000326381:p.Arg142Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R143P	ENST00000323963.5	37	c.428	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153886	0.78114	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.15603	2.41;2.41;2.41	4.51	4.51	0.55191	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.41236	1.265	0.80722	D	1	D;D;D	0.71674	0.998;0.972;0.977	D;P;P	0.67900	0.954;0.637;0.752	T	0.00893	-1.1524	10	0.35671	T	0.21	-22.2168	15.0932	0.72211	0.0:0.0:1.0:0.0	.	47;143;142	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	P	142;143;47	ENSP00000326381:R142P;ENSP00000398370:R143P;ENSP00000348925:R47P	ENSP00000326381:R142P	R	+	2	0	EIF4A2	187986442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.497000	0.84241	0.650000	0.86243	CGA	EIF4A2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186503748	+1	no_errors	ENST00000440191	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF5A	1984	genome.wustl.edu	37	17	7213022	7213022	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7213022C>T	ENST00000336458.8	+	2	469	c.68C>T	c.(67-69)tCa>tTa	p.S23L	EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L|EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L|EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	23	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						ATGCAGTGCTCAGCATTACGT	0.522																																																	0													192.0	177.0	183.0					17																	7213022		2203	4300	6503	SO:0001583	missense	1984				CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.68C>T	17.37:g.7213022C>T	ENSP00000336776:p.Ser23Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.S53L	ENST00000336458.8	37	c.158	CCDS11099.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.517130|4.517130	0.85495|0.85495	.|.	.|.	ENSG00000132507|ENSG00000132507	ENST00000355068|ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.|T;T;T;T	.|0.48522	.|0.81;0.81;0.81;0.81	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	.|0.000000	.|0.64402	.|D	.|0.000014	.|T	.|0.78413	.|0.4279	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.976;0.992	.|D	.|0.86432	.|0.1761	.|10	0.87932|0.72032	D|D	0|0.01	-5.7685|-5.7685	15.3285|15.3285	0.74186|0.74186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|23;53	.|P63241;P63241-2	.|IF5A1_HUMAN;.	X|L	21|53;23;23;23	.|ENSP00000336702:S53L;ENSP00000336776:S23L;ENSP00000390677:S23L;ENSP00000396073:S23L	ENSP00000347180:Q21X|ENSP00000336702:S53L	Q|S	+|+	1|2	0|0	EIF5A|EIF5A	7153746|7153746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.428000|5.428000	0.66489|0.66489	2.149000|2.149000	0.67028|0.67028	0.385000|0.385000	0.25706|0.25706	CAG|TCA	EIF5A	-	superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A		0.522	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5A	HGNC	protein_coding	OTTHUMT00000220047.3	C	NM_001970		7213022	+1	no_errors	ENST00000336452	ensembl	human	known	70_37	missense	SNP	1.000	T
ELAVL1	1994	genome.wustl.edu	37	19	8028545	8028545	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:8028545C>G	ENST00000407627.2	-	6	932	c.803G>C	c.(802-804)gGt>gCt	p.G268A	ELAVL1_ENST00000596459.1_Missense_Mutation_p.G268A|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000351593.5_Missense_Mutation_p.G295A	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	268	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGTGACGGCACCAAACGGCCC	0.547																																																	0													135.0	115.0	122.0					19																	8028545		2203	4300	6503	SO:0001583	missense	1994			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.803G>C	19.37:g.8028545C>G	ENSP00000385269:p.Gly268Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.G295A	ENST00000407627.2	37	c.884	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059172	0.76074	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.44083	0.93;0.93	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.93106	3.38	0.80722	D	1	P	0.49961	0.93	P	0.60345	0.873	T	0.77579	-0.2535	10	0.87932	D	0	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	268	Q15717	ELAV1_HUMAN	A	268;295	ENSP00000385269:G268A;ENSP00000264073:G295A	ENSP00000264073:G295A	G	-	2	0	ELAVL1	7934545	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GGT	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.547	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	C	NM_001419		8028545	-1	no_errors	ENST00000351593	ensembl	human	known	70_37	missense	SNP	1.000	G
ELF3	1999	genome.wustl.edu	37	1	201981119	201981119	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:201981119C>G	ENST00000359651.3	+	2	3390	c.198C>G	c.(196-198)ttC>ttG	p.F66L	RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.F66L|ELF3_ENST00000367284.5_Missense_Mutation_p.F66L|ELF3_ENST00000495848.1_3'UTR					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGCCCCAGTTCTGGTCGAAGA	0.572																																																	0													106.0	108.0	107.0					1																	201981119		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.198C>G	1.37:g.201981119C>G	ENSP00000352673:p.Phe66Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.F66L	ENST00000359651.3	37	c.198	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	C	8.979	0.974921	0.18736	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.15	-0.806	0.10875	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.725103	0.10227	N	0.700137	T	0.14874	0.0359	N	0.11560	0.145	0.32548	N	0.532762	B	0.02656	0.0	B	0.04013	0.001	T	0.37934	-0.9684	10	0.06891	T	0.86	.	21.0947	0.99945	0.0:0.363:0.637:0.0	.	66	P78545	ELF3_HUMAN	L	66;66;66;66;64	ENSP00000352673:F66L;ENSP00000356253:F66L;ENSP00000356252:F66L;ENSP00000405162:F64L	ENSP00000311348:F66L	F	+	3	2	ELF3	200247742	0.915000	0.31059	0.973000	0.42090	0.544000	0.35116	0.509000	0.22707	-0.082000	0.12640	0.591000	0.81541	TTC	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.572	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201981119	+1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	0.268	G
EMC10	284361	genome.wustl.edu	37	19	50983986	50983986	+	Missense_Mutation	SNP	C	C	T	rs369893864		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50983986C>T	ENST00000334976.6	+	5	597	c.551C>T	c.(550-552)tCg>tTg	p.S184L	EMC10_ENST00000376918.3_Missense_Mutation_p.S184L|EMC10_ENST00000598585.1_Missense_Mutation_p.S184L|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	184						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.S184L(2)									TTCAACACCTCGGTGCAGCTG	0.716																																																	2	Substitution - Missense(2)	breast(2)						C	LEU/SER,LEU/SER	0,4394		0,0,2197	26.0	28.0	27.0		551,551	4.2	0.0	19		27	1,8583		0,1,4291	no	missense,missense	C19orf63	NM_175063.4,NM_206538.2	145,145	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	184/255,184/263	50983986	1,12977	2197	4292	6489	SO:0001583	missense	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.551C>T	19.37:g.50983986C>T	ENSP00000334037:p.Ser184Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.S184L	ENST00000334976.6	37	c.551	CCDS12796.1	19	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483826	0.44147	0.0	1.16E-4	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.16	4.16	0.48862	.	0.183997	0.44097	D	0.000494	T	0.55369	0.1916	L	0.48642	1.525	0.46725	D	0.999172	D;P;D	0.62365	0.991;0.953;0.991	P;B;P	0.46237	0.508;0.209;0.508	T	0.57551	-0.7792	9	0.35671	T	0.21	-4.9557	16.085	0.81038	0.0:1.0:0.0:0.0	.	184;184;184	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	L	184	.	ENSP00000334037:S184L	S	+	2	0	C19orf63	55675798	0.345000	0.24835	0.016000	0.15963	0.084000	0.17831	3.947000	0.56652	2.249000	0.74217	0.313000	0.20887	TCG	EMC10	-	NULL		0.716	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	C	NM_175063		50983986	+1	no_errors	ENST00000334976	ensembl	human	known	70_37	missense	SNP	0.830	T
EML6	400954	genome.wustl.edu	37	2	55077342	55077342	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:55077342C>G	ENST00000356458.6	+	9	1951	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	RNU7-81P_ENST00000516698.1_RNA	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	477						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						AACGATTGTTCTACAGAATGC	0.418																																																	0													115.0	92.0	99.0					2																	55077342		692	1591	2283	SO:0001583	missense	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.1431C>G	2.37:g.55077342C>G	ENSP00000348842:p.Phe477Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F477L	ENST00000356458.6	37	c.1431	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783623	0.49891	.	.	ENSG00000214595	ENST00000356458	T	0.38560	1.13	5.39	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.263939	0.14355	U	0.324853	T	0.32496	0.0831	L	0.35644	1.08	0.45139	D	0.998157	B	0.14012	0.009	B	0.15052	0.012	T	0.04635	-1.0937	10	0.19590	T	0.45	.	12.124	0.53907	0.0:0.8584:0.0:0.1416	.	477	Q6ZMW3	EMAL6_HUMAN	L	477	ENSP00000348842:F477L	ENSP00000348842:F477L	F	+	3	2	EML6	54930846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.463000	0.45058	0.729000	0.32403	0.563000	0.77884	TTC	EML6	-	superfamily_WD40_repeat_dom		0.418	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	C	XM_001725002		55077342	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	missense	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	20	60808149	60808149	+	IGR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:60808149G>C								HRH3 (12826 upstream) : OSBPL2 (5430 downstream)																							CCCTGGCACTGAGGCCCAGCC	0.642																																																	0																																										SO:0001628	intergenic_variant	0																															20.37:g.60808149G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E87Q		37	c.259		20	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550603	0.13374	.	.	ENSG00000203951	ENST00000370795	.	.	.	2.79	0.71	0.18157	.	.	.	.	.	T	0.44074	0.1276	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52563	-0.8559	4	0.87932	D	0	.	3.9266	0.09267	0.1459:0.2504:0.6037:0.0	.	.	.	.	Q	87	.	ENSP00000359831:E87Q	E	+	1	0	AL078633.1	60241544	0.002000	0.14202	0.123000	0.21794	0.426000	0.31534	0.710000	0.25748	0.213000	0.20722	-0.258000	0.10820	GAG	FLJ44790	-	NULL	0	0.642					ENSG00000203951	Uniprot_genename			G			60808149	+1	no_errors	ENST00000370795	ensembl	human	known	70_37	missense	SNP	0.141	C
RBM3	5935	genome.wustl.edu	37	X	48433156	48433156	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48433156G>C	ENST00000376759.3	+	1	50				AC115618.1_ENST00000376775.2_Silent_p.L31L|RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000430348.2_Intron|RBM3_ENST00000466764.1_Intron|RBM3_ENST00000376755.1_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ATCTGAGTGTGAGGCCTACCG	0.622											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.-14+195G>C	X.37:g.48433156G>C		Somatic	954	WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L31	ENST00000376759.3	37	c.93	CCDS14301.1	X																																																																																			AC115618.1	-	NULL		0.622	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000204620	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000060755.1	G	NM_006743		48433156	-1	no_errors	ENST00000376775	ensembl	human	known	70_37	silent	SNP	0.000	C
POLR2J2	246721	genome.wustl.edu	37	7	102313440	102313440	+	5'Flank	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:102313440C>G	ENST00000476151.1	-	0	0				POLR2J2_ENST00000591000.1_5'Flank|POLR2J2_ENST00000358438.5_5'Flank|POLR2J2_ENST00000333432.6_5'Flank			Q9GZM3	RPB1B_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J2						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			skin(1)	1						gaaagggagtctccctttccc	0.572																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS43627.1	7q22.1	2014-08-12			ENSG00000228049	ENSG00000267645		"""RNA polymerase subunits"""	23208	protein-coding gene	gene with protein product		609881				15586814	Standard	NM_032959		Approved	RPB11b1	uc010lij.2	Q9GZM3	OTTHUMG00000150388		7.37:g.102313440C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	F6W009|Q9H1A8	Missense_Mutation	SNP	NULL	p.E123D	ENST00000476151.1	37	c.369	CCDS43627.1	7	.	.	.	.	.	.	.	.	.	.	c	3.765	-0.048841	0.07407	.	.	ENSG00000205233	ENST00000542270	.	.	.	.	.	.	.	.	.	.	.	T	0.66458	0.2791	.	.	.	.	.	.	.	.	.	.	.	.	T	0.77807	-0.2450	1	0.87932	D	0	.	.	.	.	.	.	.	.	D	123	.	ENSP00000445063:E123D	E	-	3	2	AC105052.1	102100676	0.255000	0.24002	.	.	.	.	0.104000	0.15313	.	.	.	.	GAG	AC105052.1	-	NULL		0.572	POLR2J2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	ENSG00000205233	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000453068.1	C			102313440	-1	no_errors	ENST00000542270	ensembl	human	known	70_37	missense	SNP	0.000	G
LINC01602	100505477	genome.wustl.edu	37	8	58893555	58893555	+	lincRNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:58893555C>G	ENST00000522992.1	+	0	230																											TGGCTTACCTCAACATGTGGA	0.343																																																	0																																												0																															8.37:g.58893555C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000522992.1	37	NULL		8																																																																																			RP11-1112C15.1	-	-		0.343	RP11-1112C15.1-001	KNOWN	basic	lincRNA	ENSG00000205293	Clone_based_vega_gene	lincRNA	OTTHUMT00000378087.1	C			58893555	+1	no_errors	ENST00000522992	ensembl	human	known	70_37	rna	SNP	0.782	G
RP11-503N18.1	0	genome.wustl.edu	37	4	2428664	2428664	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:2428664C>T	ENST00000382849.2	+	0	482																											GGTCCTCCATCCCCCAGGCGC	0.607																																																	0																																												0																															4.37:g.2428664C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000382849.2	37	NULL		4																																																																																			RP11-503N18.1	-	-		0.607	RP11-503N18.1-001	KNOWN	basic	lincRNA	ENSG00000206113	Clone_based_vega_gene	lincRNA	OTTHUMT00000360938.2	C			2428664	+1	no_errors	ENST00000382849	ensembl	human	known	70_37	rna	SNP	0.009	T
RP11-503N18.1	0	genome.wustl.edu	37	4	2429035	2429035	+	lincRNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:2429035C>G	ENST00000382849.2	+	0	853																											AGGTGCTGATCTCACATCCAC	0.632																																																	0																																												0																															4.37:g.2429035C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000382849.2	37	NULL		4																																																																																			RP11-503N18.1	-	-		0.632	RP11-503N18.1-001	KNOWN	basic	lincRNA	ENSG00000206113	Clone_based_vega_gene	lincRNA	OTTHUMT00000360938.2	C			2429035	+1	no_errors	ENST00000382849	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-553A10.1	0	genome.wustl.edu	37	3	110611266	110611266	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:110611266G>C	ENST00000383686.2	-	2	523	c.410C>G	c.(409-411)tCt>tGt	p.S137C	PVRL3-AS1_ENST00000476301.1_RNA|PVRL3-AS1_ENST00000474769.1_RNA																							CTGCTTCCTAGACCTTGAGAA	0.562																																																	0																																										SO:0001583	missense	0																														ENST00000383686.2:c.410C>G	3.37:g.110611266G>C	ENSP00000373184:p.Ser137Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S137C	ENST00000383686.2	37	c.410		3	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424819	0.25639	.	.	ENSG00000206532	ENST00000485473;ENST00000383686	.	.	.	3.55	1.74	0.24563	.	0.388102	0.19144	N	0.121619	T	0.63943	0.2554	.	.	.	.	.	.	D	0.89917	1.0	D	0.67382	0.951	T	0.69296	-0.5182	7	0.87932	D	0	.	5.6727	0.17731	0.25:0.0:0.75:0.0	.	137	Q1RN00	YC018_HUMAN	C	87;137	.	ENSP00000373184:S137C	S	-	2	0	RP11-553A10.1	112093956	0.744000	0.28250	0.891000	0.34965	0.724000	0.41520	0.933000	0.28897	0.504000	0.28082	-0.266000	0.10368	TCT	RP11-553A10.1	-	NULL		0.562	RP11-553A10.1-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000206532	Clone_based_vega_gene	protein_coding	OTTHUMT00000354057.1	G			110611266	-1	no_errors	ENST00000383686	ensembl	human	known	70_37	missense	SNP	0.911	C
SNORA24	677809	genome.wustl.edu	37	3	128433492	128433492	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128433492C>G	ENST00000384401.1	-	0	56									small nucleolar RNA, H/ACA box 24																		TATACTTACTCTTCCATGGCT	0.408																																																	0																																												0			AJ609460		4q26	2013-09-05			ENSG00000206823	ENSG00000275994		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32614	non-coding RNA	RNA, small nucleolar						15199136, 16381836	Standard	NR_002963		Approved	ACA24	uc031sbs.1				3.37:g.128433492C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384401.1	37	NULL		3																																																																																			SNORA24	-	-		0.408	SNORA24.2-201	NOVEL	basic	snoRNA	ENSG00000207130	RFAM	snoRNA		C	NR_002963		128433492	-1	no_errors	ENST00000384401	ensembl	human	novel	70_37	rna	SNP	1.000	G
GPC3	2719	genome.wustl.edu	37	X	132880836	132880836	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:132880836C>G	ENST00000370818.3	-	3	1478				GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Intron|AL009174.1_ENST00000390161.1_RNA	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3						anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CAAGGTATCTCTATCTGAGAC	0.383			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0																																										SO:0001627	intron_variant	0	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1032+6672G>C	X.37:g.132880836C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JLE3|G3V1R0|Q2L880|Q2L882	RNA	SNP	-	NULL	ENST00000370818.3	37	NULL	CCDS14638.1	X																																																																																			AL009174.1	-	-		0.383	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000211495	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000058356.1	C	NM_004484		132880836	-1	no_errors	ENST00000390161	ensembl	human	novel	70_37	rna	SNP	1.000	G
RP11-320M2.1	0	genome.wustl.edu	37	2	10594074	10594074	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:10594074C>T	ENST00000553181.1	+	0	3474				AC007249.3_ENST00000404616.2_lincRNA																							GCCAGAGCCTCACCCTGGTGG	0.582																																																	0																																												0																															2.37:g.10594074C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000553181.1	37	NULL		2																																																																																			AC007249.3	-	-		0.582	RP11-320M2.1-002	KNOWN	basic|exp_conf	lincRNA	ENSG00000217258	Clone_based_vega_gene	lincRNA	OTTHUMT00000408121.1	C			10594074	+1	no_errors	ENST00000404616	ensembl	human	known	70_37	rna	SNP	0.942	T
TDRD15	100129278	genome.wustl.edu	37	2	21361709	21361709	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:21361709C>T	ENST00000405799.1	+	4	1700	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L				B5MCY1	TDR15_HUMAN	tudor domain containing 15	457							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										ATTGAATGGTCAATAGACTCT	0.343																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.1370C>T	2.37:g.21361709C>T	ENSP00000384376:p.Ser457Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.S457L	ENST00000405799.1	37	c.1370		2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517623	0.27123	.	.	ENSG00000218819	ENST00000405799	T	0.17691	2.26	4.99	1.95	0.26073	.	.	.	.	.	T	0.09949	0.0244	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34428	-0.9829	5	0.15499	T	0.54	-16.2508	4.9225	0.13876	0.1334:0.547:0.0:0.3196	.	.	.	.	L	457	ENSP00000384376:S457L	ENSP00000384376:S457L	S	+	2	0	AC010872.2	21215214	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	0.102000	0.15272	0.155000	0.19261	0.585000	0.79938	TCA	AC010872.2	-	NULL		0.343	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	C			21361709	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	missense	SNP	0.000	T
AL445204.1	0	genome.wustl.edu	37	13	107773464	107773464	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:107773464C>G	ENST00000408389.1	+	0	84																											ttgcaccaatctaaGAGATCT	0.378																																																	0																																												0																															13.37:g.107773464C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408389.1	37	NULL		13																																																																																			AL445204.1	-	-		0.378	AL445204.1-201	NOVEL	basic	miRNA	ENSG00000221316	Clone_based_ensembl_gene	miRNA		C			107773464	+1	no_errors	ENST00000408389	ensembl	human	novel	70_37	rna	SNP	0.001	G
AP000233.4	0	genome.wustl.edu	37	21	26543086	26543086	+	lincRNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:26543086G>A	ENST00000409758.1	-	0	428																											tgacaatccagaagggctggA	0.438																																																	0																																												0																															21.37:g.26543086G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000409758.1	37	NULL		21																																																																																			AP000233.4	-	-		0.438	AP000233.4-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000222042	Clone_based_vega_gene	lincRNA	OTTHUMT00000171136.3	G			26543086	-1	no_errors	ENST00000409758	ensembl	human	known	70_37	rna	SNP	0.000	A
KIF28P	100130097	genome.wustl.edu	37	1	246940594	246940594	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:246940594C>T	ENST00000451123.1	-	0	968				RP11-439E19.3_ENST00000509202.1_RNA|RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.10_ENST00000567832.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA																							CCCCATAGGTCAACAATAAGG	0.453																																																	0																																												0																															1.37:g.246940594C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451123.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739513	0.89573	.	.	ENSG00000223519	ENST00000451123	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.77987	0.4213	.	.	.	.	.	.	.	.	.	.	.	.	T	0.81577	-0.0869	4	0.87932	D	0	.	17.9739	0.89121	0.0:1.0:0.0:0.0	.	.	.	.	N	172	.	ENSP00000412987:D172N	D	-	1	0	RP11-439E19.8	245007217	1.000000	0.71417	0.961000	0.40146	0.976000	0.68499	5.855000	0.69510	2.340000	0.79590	0.643000	0.83706	GAC	RP11-439E19.8	-	-		0.453	RP11-439E19.8-002	KNOWN	basic|exp_conf	processed_transcript	ENSG00000223519	Clone_based_vega_gene	pseudogene	OTTHUMT00000331247.2	C			246940594	-1	no_errors	ENST00000451123	ensembl	human	known	70_37	rna	SNP	1.000	T
DENND6B	414918	genome.wustl.edu	37	22	50753223	50753223	+	Intron	SNP	G	G	A	rs376384403	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50753223G>A	ENST00000413817.3	-	10	953				XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B						positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GGGCCAAGGCGATACCTGGTC	0.692													G|||	5	0.000998403	0.0	0.0	5008	,	,		15616	0.0		0.002	False		,,,				2504	0.0031																0								G		0,4298		0,0,2149	25.0	36.0	32.0			-5.8	0.0	22		32	1,8435		0,1,4217	no	intron	FAM116B	NM_001001794.3		0,1,6366	AA,AG,GG		0.0119,0.0,0.0079			50753223	1,12733	2149	4218	6367	SO:0001627	intron_variant	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.881+4C>T	22.37:g.50753223G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6X8I5	RNA	SNP	-	NULL	ENST00000413817.3	37	NULL	CCDS46732.1	22																																																																																			XX-C283C717.1	-	-		0.692	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000227484	Clone_based_vega_gene	protein_coding	OTTHUMT00000316845.3	G	NM_001001794		50753223	+1	no_errors	ENST00000453835	ensembl	human	putative	70_37	rna	SNP	0.000	A
GBGT1	26301	genome.wustl.edu	37	9	136028893	136028893	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:136028893C>G	ENST00000372040.3	-	0	1426				RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_3'UTR|GBGT1_ENST00000372043.3_3'UTR|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1						glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CAGGGCTGGTCTGCACGCTAG	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.*71G>C	9.37:g.136028893C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	RNA	SNP	-	NULL	ENST00000372040.3	37	NULL	CCDS6960.1	9																																																																																			RP11-326L24.7	-	-		0.597	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000227677	Clone_based_vega_gene	protein_coding	OTTHUMT00000054815.1	C	NM_021996		136028893	+1	no_errors	ENST00000447308	ensembl	human	known	70_37	rna	SNP	0.000	G
SPDYE1	285955	genome.wustl.edu	37	7	44043653	44043653	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44043653G>C	ENST00000258704.3	+	3	683				RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1											endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ttgtgtgtgtgagacagagtc	0.542																																																	0																																										SO:0001627	intron_variant	0			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.546+143G>C	7.37:g.44043653G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NTH5	RNA	SNP	-	NULL	ENST00000258704.3	37	NULL	CCDS5475.1	7																																																																																			AC004951.6	-	-		0.542	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228434	Clone_based_vega_gene	protein_coding	OTTHUMT00000250974.1	G	NM_175064		44043653	-1	no_errors	ENST00000447643	ensembl	human	known	70_37	rna	SNP	0.045	C
FMNL1	752	genome.wustl.edu	37	17	43326179	43326179	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43326179C>T	ENST00000331495.3	+	0	4101				MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGTGGTTGTCATCGAAGACA	0.632																																					GBM(164;1247 1997 8702 11086 51972)												0																																										SO:0001628	intergenic_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466			17.37:g.43326179C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	RNA	SNP	-	NULL	ENST00000331495.3	37	NULL	CCDS11497.1	17																																																																																			CTD-2020K17.4	-	-		0.632	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233483	Clone_based_vega_gene	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43326179	-1	no_errors	ENST00000591361	ensembl	human	known	70_37	rna	SNP	0.903	T
FHAD1	114827	genome.wustl.edu	37	1	15654738	15654738	+	Intron	DEL	T	T	-			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:15654738delT	ENST00000375998.4	+	12	1557				FHAD1_ENST00000401090.2_Intron|RP3-467K16.2_ENST00000428747.1_RNA|FHAD1_ENST00000375995.3_Intron|FHAD1_ENST00000375999.3_Intron|FHAD1_ENST00000358897.4_Intron|FHAD1_ENST00000471347.1_Intron|FHAD1_ENST00000417793.1_Intron			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1											skin(1)|stomach(1)	2						ATGTTACATCttttttttttt	0.458																																																	0													11.0	11.0	11.0					1																	15654738		692	1591	2283	SO:0001627	intron_variant	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.1558-35T>-	1.37:g.15654738delT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	RNA	DEL	-	NULL	ENST00000375998.4	37	NULL		1																																																																																			RP3-467K16.2	-	-		0.458	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	ENSG00000233485	Clone_based_vega_gene	protein_coding	OTTHUMT00000393400.2	T	NM_052929		15654738	-1	no_errors	ENST00000428747	ensembl	human	known	70_37	rna	DEL	0.002	-
LOC730338	730338	genome.wustl.edu	37	7	46736610	46736610	+	Start_Codon_SNP	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:46736610C>T	ENST00000451905.1	-	1	110	c.3G>A	c.(1-3)atG>atA	p.M1I	AC011294.3_ENST00000469937.1_Intron																							cttgaaattccatatccagta	0.338																																																	0																																										SO:0001582	initiator_codon_variant	0																														ENST00000451905.1:c.3G>A	7.37:g.46736610C>T	ENSP00000398500:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.M1I	ENST00000451905.1	37	c.3		7	.	.	.	.	.	.	.	.	.	.	C	0.287	-0.982389	0.02180	.	.	ENSG00000233539	ENST00000451905	.	.	.	.	.	.	.	.	.	.	.	T	0.48429	0.1499	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58775	-0.7577	2	0.87932	D	0	.	.	.	.	.	.	.	.	I	1	.	ENSP00000398500:M1I	M	-	3	0	AC011294.3	46703135	0.010000	0.17322	0.123000	0.21794	0.123000	0.20343	-0.499000	0.06413	0.119000	0.18210	0.121000	0.15741	ATG	AC011294.3	-	NULL		0.338	AC011294.3-003	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000233539	Clone_based_vega_gene	protein_coding	OTTHUMT00000340262.1	C		Missense_Mutation	46736610	-1	no_errors	ENST00000451905	ensembl	human	putative	70_37	missense	SNP	0.186	T
RBM8A	9939	genome.wustl.edu	37	1	145507780	145507780	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:145507780G>C	ENST00000330165.8	+	1	136				RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RBM8A_ENST00000369307.3_Intron|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGTGCGAGAGAAGGCTATAA	0.542											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	21.0	23.0					1																	145507780		2202	4300	6502	SO:0001627	intron_variant	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.67+47G>C	1.37:g.145507780G>C		Somatic	1695	WXS	Illumina HiSeq	Phase_IV	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	RNA	SNP	-	NULL	ENST00000330165.8	37	NULL	CCDS916.1	1																																																																																			RP11-315I20.1	-	-		0.542	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234222	Clone_based_vega_gene	protein_coding	OTTHUMT00000038503.2	G	NM_005105		145507780	-1	no_errors	ENST00000412239	ensembl	human	known	70_37	rna	SNP	0.152	C
AP001631.9	0	genome.wustl.edu	37	21	44560841	44560841	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:44560841G>A	ENST00000424933.1	-	0	213																											ccgtgaggctgaggtgtatac	0.597																																																	0													46.0	48.0	48.0					21																	44560841		692	1591	2283			0																															21.37:g.44560841G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424933.1	37	NULL		21																																																																																			AP001631.9	-	-		0.597	AP001631.9-001	KNOWN	basic|exp_conf	antisense	ENSG00000236663	Clone_based_vega_gene	antisense	OTTHUMT00000195569.1	G			44560841	-1	no_errors	ENST00000424933	ensembl	human	known	70_37	rna	SNP	0.000	A
KMT2E	55904	genome.wustl.edu	37	7	104653894	104653894	+	5'Flank	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:104653894G>C	ENST00000311117.3	+	0	0				KMT2E-AS1_ENST00000585013.1_RNA|KMT2E_ENST00000334914.7_5'Flank|KMT2E_ENST00000334877.4_5'Flank|KMT2E-AS1_ENST00000453677.1_RNA|LINC01004_ENST00000450686.1_RNA|KMT2E_ENST00000257745.4_5'Flank|LINC01004_ENST00000445184.1_RNA|KMT2E_ENST00000476671.1_5'Flank	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAGGCCAAGAGAAGTATAGGA	0.592											OREG0018246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403		7.37:g.104653894G>C	Exception_encountered	Somatic	1383	WXS	Illumina HiSeq	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	RNA	SNP	-	NULL	ENST00000311117.3	37	NULL	CCDS34723.1	7																																																																																			RP11-325F22.4	-	-		0.592	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000239569	Clone_based_vega_gene	protein_coding	OTTHUMT00000348697.1	G			104653894	-1	no_errors	ENST00000453677	ensembl	human	known	70_37	rna	SNP	0.992	C
CCNL1	57018	genome.wustl.edu	37	3	156881249	156881249	+	5'Flank	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:156881249C>G	ENST00000461804.1	-	0	0				RP11-555M1.3_ENST00000480817.1_RNA|CCNL1_ENST00000295925.4_5'Flank			Q9UK58	CCNL1_HUMAN	cyclin L1						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTAAAGTCATCAGCAGCAAGA	0.473																																																	0																																										SO:0001631	upstream_gene_variant	0			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713		3.37:g.156881249C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	RNA	SNP	-	NULL	ENST00000461804.1	37	NULL		3																																																																																			RP11-555M1.3	-	-		0.473	CCNL1-002	PUTATIVE	basic	protein_coding	ENSG00000241770	Clone_based_vega_gene	protein_coding	OTTHUMT00000351860.1	C	NM_020307		156881249	+1	no_errors	ENST00000480817	ensembl	human	known	70_37	rna	SNP	1.000	G
SLIT3	6586	genome.wustl.edu	37	5	168135179	168135179	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:168135179C>T	ENST00000519560.1	-	26	3139				CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Intron|SLIT3_ENST00000404867.3_Intron|CTC-558O2.1_ENST00000521870.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTCTGCTCTGGGCCCTCC	0.612																																					Ovarian(29;311 847 10864 17279 24903)												0																																										SO:0001627	intron_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2720-74G>A	5.37:g.168135179C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	RNA	SNP	-	NULL	ENST00000519560.1	37	NULL	CCDS4369.1	5																																																																																			CTC-558O2.1	-	-		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254042	Clone_based_vega_gene	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168135179	+1	no_errors	ENST00000522615	ensembl	human	known	70_37	rna	SNP	0.000	T
BLK	640	genome.wustl.edu	37	8	11415441	11415441	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:11415441G>A	ENST00000259089.4	+	10	1544				BLK_ENST00000529894.1_Intron|RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCACTTTGCAGAAGGGCACTT	0.562																																																	0													77.0	69.0	72.0					8																	11415441		2203	4300	6503	SO:0001627	intron_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.953-30G>A	8.37:g.11415441G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16291|Q96IN1	RNA	SNP	-	NULL	ENST00000259089.4	37	NULL	CCDS5982.1	8																																																																																			RP11-148O21.4	-	-		0.562	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255518	Clone_based_vega_gene	protein_coding	OTTHUMT00000207460.1	G			11415441	-1	no_errors	ENST00000528629	ensembl	human	known	70_37	rna	SNP	0.002	A
BBS1	582	genome.wustl.edu	37	11	66293630	66293630	+	Missense_Mutation	SNP	C	C	T	rs143495423	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:66293630C>T	ENST00000318312.7	+	12	1198	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	BBS1_ENST00000393994.2_Missense_Mutation_p.R254W|BBS1_ENST00000455748.2_Missense_Mutation_p.R286W|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R420W	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	383					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCGGTACGGGCGGGAGGACAA	0.557									Bardet-Biedl syndrome				C|||	3	0.000599042	0.0	0.0	5008	,	,		20231	0.0		0.0	False		,,,				2504	0.0031				GBM(152;173 2612 9770 10137)												0													102.0	87.0	92.0					11																	66293630		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1147C>T	11.37:g.66293630C>T	ENSP00000317469:p.Arg383Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R420W	ENST00000318312.7	37	c.1258	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175803	0.78564	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97976	-4.58;-4.64;-4.44;-2.64	4.47	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	D	0.98557	0.9518	M	0.87758	2.905	0.80722	D	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;0.999;0.995;1.0;1.0;1.0	D	0.98696	1.0698	9	0.87932	D	0	.	10.1296	0.42672	0.1995:0.8005:0.0:0.0	.	58;286;254;271;383;420	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	W	420;383;286;254	ENSP00000398526:R420W;ENSP00000317469:R383W;ENSP00000405764:R286W;ENSP00000377563:R254W	ENSP00000317469:R383W	R	+	1	2	BBS1;CTD-3074O7.11	66050206	0.984000	0.35163	1.000000	0.80357	0.878000	0.50629	2.635000	0.46537	2.500000	0.84329	0.563000	0.77884	CGG	BBS1	-	superfamily_Quinonprotein_ADH-like		0.557	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	C			66293630	+1	no_errors	ENST00000419755	ensembl	human	known	70_37	missense	SNP	1.000	T
NPIPB1P	729602	genome.wustl.edu	37	18	11639425	11639425	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:11639425G>A	ENST00000547442.1	-	0	111									nuclear pore complex interacting protein family, member B1, pseudogene																		CATGGGACAGGAACTGTGGGG	0.478																																																	0																																												0					18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11639425G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000547442.1	37	NULL		18																																																																																			RP11-677O4.1	-	-		0.478	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ENSG00000257513	Clone_based_vega_gene	pseudogene	OTTHUMT00000409451.1	G	NG_023368		11639425	-1	no_errors	ENST00000547442	ensembl	human	known	70_37	rna	SNP	0.006	A
PRPH	5630	genome.wustl.edu	37	12	49690074	49690074	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49690074C>G	ENST00000257860.4	+	2	2105				RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin						cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CCCCCGATCTCAGTATCCAGA	0.657																																																	0													27.0	33.0	31.0					12																	49690074		692	1591	2283	SO:0001627	intron_variant	0				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.606+53C>G	12.37:g.49690074C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFH5|Q6DK65	RNA	SNP	-	NULL	ENST00000257860.4	37	NULL	CCDS8783.1	12																																																																																			RP11-161H23.9	-	-		0.657	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258334	Clone_based_vega_gene	protein_coding	OTTHUMT00000393381.1	C	NM_006262		49690074	-1	no_errors	ENST00000553259	ensembl	human	known	70_37	rna	SNP	0.000	G
MGAT2	4247	genome.wustl.edu	37	14	50089367	50089367	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:50089367G>A	ENST00000305386.2	+	0	1879				RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase						cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TTCTATTTTTGATATTTGTCC	0.338																																																	0													16.0	18.0	17.0					14																	50089367		1991	4058	6049	SO:0001624	3_prime_UTR_variant	0			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.*37G>A	14.37:g.50089367G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPC5|B3KQM0	RNA	SNP	-	NULL	ENST00000305386.2	37	NULL	CCDS9690.1	14																																																																																			RP11-649E7.5	-	-		0.338	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258377	Clone_based_vega_gene	protein_coding	OTTHUMT00000276807.1	G	NM_002408		50089367	-1	no_errors	ENST00000555043	ensembl	human	known	70_37	rna	SNP	0.998	A
AKAP13	11214	genome.wustl.edu	37	15	86288014	86288014	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:86288014C>T	ENST00000394518.2	+	0	8643				AKAP13_ENST00000361243.2_3'UTR|AKAP13_ENST00000394510.2_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACTGCTCCTCAGCGTCCAGT	0.617																																					Melanoma(94;603 1453 3280 32295 32951)												0																																										SO:0001624	3_prime_UTR_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.*106C>T	15.37:g.86288014C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	RNA	SNP	-	NULL	ENST00000394518.2	37	NULL	CCDS32319.1	15																																																																																			RP11-158M2.3	-	-		0.617	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000259407	Clone_based_vega_gene	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86288014	-1	no_errors	ENST00000558375	ensembl	human	known	70_37	rna	SNP	0.001	T
LPIN2	9663	genome.wustl.edu	37	18	2946398	2946398	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:2946398C>T	ENST00000261596.4	-	4	829				RP11-737O24.2_ENST00000581488.1_RNA|RP11-737O24.3_ENST00000581139.1_RNA|RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATCAGTTGTTCTTCTCTTACA	0.448																																																	0																																										SO:0001627	intron_variant	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.590+4654G>A	18.37:g.2946398C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD25|D3DUH3	RNA	SNP	-	NULL	ENST00000261596.4	37	NULL	CCDS11829.1	18																																																																																			RP11-737O24.3	-	-		0.448	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263606	Clone_based_vega_gene	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2946398	-1	no_errors	ENST00000581139	ensembl	human	known	70_37	rna	SNP	1.000	T
MPRIP	23164	genome.wustl.edu	37	17	17072016	17072016	+	Intron	SNP	C	C	G	rs530171787		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:17072016C>G	ENST00000341712.4	+	16	2163				RNU6-767P_ENST00000384132.1_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Intron|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395804.3_Intron			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCCTTAGACTCAAAAGTTTAC	0.542																																																	0																																										SO:0001627	intron_variant	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2164-3016C>G	17.37:g.17072016C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	RNA	SNP	-	NULL	ENST00000341712.4	37	NULL	CCDS32578.1	17																																																																																			RP11-45M22.3	-	-		0.542	MPRIP-002	KNOWN	basic|CCDS	protein_coding	ENSG00000263624	Clone_based_vega_gene	protein_coding	OTTHUMT00000131587.1	C	NM_015134		17072016	-1	no_errors	ENST00000584203	ensembl	human	known	70_37	rna	SNP	0.005	G
EIF4A2	1974	genome.wustl.edu	37	3	186501297	186501297	+	5'Flank	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186501297G>C	ENST00000323963.5	+	0	0				SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_5'Flank|SNORA63_ENST00000363548.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'Flank			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGCACGGCGAGAAAATTCCTC	0.498			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0																																										SO:0001631	upstream_gene_variant	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564		3.37:g.186501297G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	RNA	SNP	-	NULL	ENST00000323963.5	37	NULL	CCDS3282.1	3																																																																																			RP11-573D15.9	-	-		0.498	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263826	Clone_based_vega_gene	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186501297	-1	no_errors	ENST00000577781	ensembl	human	known	70_37	rna	SNP	0.025	C
RAB12	201475	genome.wustl.edu	37	18	8636223	8636223	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:8636223G>A	ENST00000329286.6	+	5	799				RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GCCCCACACAGAGGAAATAGG	0.522																																																	0													86.0	81.0	82.0					18																	8636223		1953	4156	6109	SO:0001627	intron_variant	0				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.517-28G>A	18.37:g.8636223G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEF5|Q4KMQ3	RNA	SNP	-	NULL	ENST00000329286.6	37	NULL	CCDS42410.1	18																																																																																			RP11-661O13.1	-	-		0.522	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENSG00000266708	Clone_based_vega_gene	protein_coding	OTTHUMT00000444080.1	G	XM_113967		8636223	-1	no_errors	ENST00000580267	ensembl	human	known	70_37	rna	SNP	0.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10727372	10727372	+	Intron	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:10727372C>A	ENST00000503781.3	-	33	4855				RP11-21G15.1_ENST00000581724.1_RNA|PIEZO2_ENST00000302079.6_Intron|PIEZO2_ENST00000580640.1_Intron	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2						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)										CTCACTGGGTCCTGGTGGGGG	0.577																																																	0																																										SO:0001627	intron_variant	0			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.4855+4032G>T	18.37:g.10727372C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	RNA	SNP	-	NULL	ENST00000503781.3	37	NULL		18																																																																																			RP11-21G15.1	-	-		0.577	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	ENSG00000264714	Clone_based_vega_gene	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10727372	+1	no_errors	ENST00000581724	ensembl	human	known	70_37	rna	SNP	0.087	A
RP11-848P1.9	0	genome.wustl.edu	37	17	29349149	29349149	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:29349149G>A	ENST00000579692.1	+	0	529																		p.?(1)									acatatgtgtgtgtgtatatg	0.299																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29349149G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000579692.1	37	NULL		17																																																																																			RP11-848P1.9	-	-		0.299	RP11-848P1.9-003	KNOWN	basic	processed_transcript	ENSG00000266865	Clone_based_vega_gene	pseudogene	OTTHUMT00000445165.1	G			29349149	+1	no_errors	ENST00000579692	ensembl	human	known	70_37	rna	SNP	0.124	A
PARD6G	84552	genome.wustl.edu	37	18	77920423	77920423	+	Intron	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:77920423G>T	ENST00000353265.3	-	3	493				AC139100.2_ENST00000587254.1_Missense_Mutation_p.A41S|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Missense_Mutation_p.A41S|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma						cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCCTGGCCAGCACCCGGCCT	0.498																																																	0																																										SO:0001627	intron_variant	0				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.296-1934C>A	18.37:g.77920423G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8QM57	Missense_Mutation	SNP	NULL	p.A41S	ENST00000353265.3	37	c.121	CCDS12022.1	18																																																																																			AC139100.2	-	NULL		0.498	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267270	Clone_based_vega_gene	protein_coding	OTTHUMT00000256435.2	G	NM_032510		77920423	+1	no_errors	ENST00000586421	ensembl	human	putative	70_37	missense	SNP	0.000	T
KLK12	43849	genome.wustl.edu	37	19	51537229	51537229	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:51537229G>C	ENST00000525263.1	-	2	317				CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250351.4_Intron|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000319590.4_Intron			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12						proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CCCAGGAAGGGACTTACCTGC	0.637																																																	0													23.0	20.0	21.0					19																	51537229		2203	4299	6502	SO:0001627	intron_variant	0				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.197+6C>G	19.37:g.51537229G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UKR1|Q9UKR2	RNA	SNP	-	NULL	ENST00000525263.1	37	NULL	CCDS12821.1	19																																																																																			CTC-518B2.9	-	-		0.637	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000268906	Clone_based_vega_gene	protein_coding	OTTHUMT00000386288.1	G	NM_019598		51537229	+1	no_errors	ENST00000594910	ensembl	human	known	70_37	rna	SNP	0.000	C
EPAS1	2034	genome.wustl.edu	37	2	46524939	46524939	+	5'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:46524939C>G	ENST00000263734.3	+	0	399				EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCGCGCACCTCGGACCTTCAC	0.746																																																	0																																										SO:0001623	5_prime_UTR_variant	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.-112C>G	2.37:g.46524939C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VA2|Q99630	RNA	SNP	-	NULL	ENST00000263734.3	37	NULL	CCDS1825.1	2																																																																																			EPAS1	-	-		0.746	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46524939	+1	no_errors	ENST00000467888	ensembl	human	putative	70_37	rna	SNP	0.000	G
EPAS1	2034	genome.wustl.edu	37	2	46574200	46574200	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:46574200C>T	ENST00000263734.3	+	2	725	c.215C>T	c.(214-216)tCa>tTa	p.S72L	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	72					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.S72L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCTCTCCTCAGGTAAGGCC	0.587																																																	1	Substitution - Missense(1)	lung(1)											99.0	90.0	93.0					2																	46574200		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.215C>T	2.37:g.46574200C>T	ENSP00000263734:p.Ser72Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.S72L	ENST00000263734.3	37	c.215	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331363	0.81690	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21932	1.98;1.98	4.82	4.82	0.62117	Helix-loop-helix DNA-binding (2);	0.607996	0.16340	N	0.218708	T	0.21801	0.0525	L	0.48935	1.535	0.80722	D	1	B	0.26400	0.148	B	0.20577	0.03	T	0.04481	-1.0948	9	.	.	.	.	18.1753	0.89759	0.0:1.0:0.0:0.0	.	72	Q99814	EPAS1_HUMAN	L	72	ENSP00000406137:S72L;ENSP00000263734:S72L	.	S	+	2	0	EPAS1	46427704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.825000	0.69286	2.517000	0.84864	0.556000	0.70494	TCA	EPAS1	-	superfamily_HLH_dom,smart_HLH_dom		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46574200	+1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	T
EPHA2	1969	genome.wustl.edu	37	1	16455987	16455987	+	Missense_Mutation	SNP	C	C	T	rs371967970		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16455987C>T	ENST00000358432.5	-	16	2921	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	923	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATGAAGTGCTCCGTATACTGC	0.647																																																	0													85.0	76.0	79.0					1																	16455987		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2767G>A	1.37:g.16455987C>T	ENSP00000351209:p.Glu923Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E923K	ENST00000358432.5	37	c.2767	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.791138	0.96945	.	.	ENSG00000142627	ENST00000358432	T	0.51574	0.7	5.78	5.78	0.91487	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000033	T	0.67468	0.2896	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.69018	-0.5256	10	0.87932	D	0	.	18.5625	0.91105	0.0:1.0:0.0:0.0	.	923	P29317	EPHA2_HUMAN	K	923	ENSP00000351209:E923K	ENSP00000351209:E923K	E	-	1	0	EPHA2	16328574	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.001000	0.70685	2.738000	0.93877	0.591000	0.81541	GAG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16455987	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T
EPHA4	2043	genome.wustl.edu	37	2	222284720	222284720	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:222284720G>A	ENST00000281821.2	-	0	4374				EPHA4_ENST00000469354.1_5'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4						adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATCAAAAGAGATAGTCAGCT	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.*1372C>T	2.37:g.222284720G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	RNA	SNP	-	NULL	ENST00000281821.2	37	NULL	CCDS2447.1	2																																																																																			EPHA4	-	-		0.428	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	G			222284720	-1	no_errors	ENST00000469354	ensembl	human	putative	70_37	rna	SNP	1.000	A
EPHB2	2048	genome.wustl.edu	37	1	23236890	23236890	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:23236890G>A	ENST00000400191.3	+	14	2536	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	EPHB2_ENST00000374630.3_Missense_Mutation_p.E840K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E841K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E835K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAATGCCATTGAGCAGGACTA	0.612																																																	0													101.0	74.0	83.0					1																	23236890		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2518G>A	1.37:g.23236890G>A	ENSP00000383053:p.Glu840Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E840K	ENST00000400191.3	37	c.2518		1	.	.	.	.	.	.	.	.	.	.	G	33	5.276459	0.95459	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.64	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	N	0.14661	0.345	0.80722	D	1	P;D;D;P	0.62365	0.956;0.991;0.991;0.938	P;D;D;P	0.66084	0.758;0.941;0.921;0.902	D	0.86523	0.1817	10	0.87932	D	0	.	16.6405	0.85070	0.0:0.0:1.0:0.0	.	782;840;858;841	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	K	782;840;840;841;835	ENSP00000363761:E840K;ENSP00000383053:E840K;ENSP00000363763:E841K;ENSP00000363758:E835K	ENSP00000363755:E782K	E	+	1	0	EPHB2	23109477	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	9.656000	0.98514	2.586000	0.87340	0.555000	0.69702	GAG	EPHB2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.612	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	G	NM_017449		23236890	+1	no_errors	ENST00000400191	ensembl	human	known	70_37	missense	SNP	1.000	A
EPRS	2058	genome.wustl.edu	37	1	220206942	220206942	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:220206942G>A	ENST00000366923.3	-	4	559	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	97					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATTAATTGTAGAAGTAAAGGA	0.358																																																	0													97.0	104.0	102.0					1																	220206942		2203	4299	6502	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.290C>T	1.37:g.220206942G>A	ENSP00000355890:p.Ser97Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.S97F	ENST00000366923.3	37	c.290	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089538	0.36855	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.44482	0.92	6.16	6.16	0.99307	Glutathione S-transferase, C-terminal-like (2);	0.422640	0.28958	N	0.013596	T	0.40791	0.1131	M	0.71581	2.175	0.37111	D	0.900331	B;P	0.40266	0.02;0.71	B;B	0.30029	0.017;0.11	T	0.54470	-0.8289	10	0.56958	D	0.05	-22.734	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	97;97	Q3KQZ8;P07814	.;SYEP_HUMAN	F	97	ENSP00000355890:S97F	ENSP00000355890:S97F	S	-	2	0	EPRS	218273565	0.998000	0.40836	0.965000	0.40720	0.520000	0.34377	2.762000	0.47597	2.937000	0.99478	0.650000	0.86243	TCT	EPRS	-	superfamily_Glutathione-S-Trfase_C-like		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220206942	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	0.593	A
EPX	8288	genome.wustl.edu	37	17	56276955	56276955	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:56276955G>C	ENST00000225371.5	+	9	1447	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	446					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)	CGGGCCAGGAGAACCCTGGGG	0.612																																																	0													91.0	83.0	86.0					17																	56276955		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.1337G>C	17.37:g.56276955G>C	ENSP00000225371:p.Arg446Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R446T	ENST00000225371.5	37	c.1337	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299703	0.40694	.	.	ENSG00000121053	ENST00000225371	T	0.68331	-0.32	5.81	1.39	0.22231	.	0.435373	0.29073	N	0.013226	T	0.52256	0.1723	L	0.33293	1	0.20074	N	0.999934	B	0.12013	0.005	B	0.17979	0.02	T	0.47983	-0.9074	10	0.51188	T	0.08	-1.9173	9.9494	0.41630	0.2789:0.0:0.7211:0.0	.	446	P11678	PERE_HUMAN	T	446	ENSP00000225371:R446T	ENSP00000225371:R446T	R	+	2	0	EPX	53631954	0.000000	0.05858	0.452000	0.26994	0.979000	0.70002	-0.322000	0.08007	0.324000	0.23333	0.655000	0.94253	AGA	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	G	NM_000502		56276955	+1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.155	C
ERAP1	51752	genome.wustl.edu	37	5	96139368	96139368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:96139368G>A	ENST00000443439.2	-	2	328	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	ERAP1_ENST00000296754.3_Nonsense_Mutation_p.Q88*|CTD-2260A17.3_ENST00000606656.1_RNA|CTD-2260A17.3_ENST00000606346.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	88					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTGGTGGGCTGACTGGCTGTG	0.527																																																	0													215.0	208.0	211.0					5																	96139368		2203	4300	6503	SO:0001587	stop_gained	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.262C>T	5.37:g.96139368G>A	ENSP00000406304:p.Gln88*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q88*	ENST00000443439.2	37	c.262	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941583	0.53079	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384;ENST00000507154	.	.	.	5.33	2.29	0.28610	.	0.468910	0.23830	N	0.044156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	10.3575	0.43974	0.0:0.1243:0.5915:0.2843	.	.	.	.	X	88	.	ENSP00000296754:Q88X	Q	-	1	0	ERAP1	96165124	0.641000	0.27251	0.819000	0.32651	0.534000	0.34807	0.919000	0.28692	0.545000	0.28902	0.561000	0.74099	CAG	ERAP1	-	pfam_Peptidase_M1_N		0.527	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	G	NM_016442		96139368	-1	no_errors	ENST00000296754	ensembl	human	known	70_37	nonsense	SNP	0.347	A
ERBB3	2065	genome.wustl.edu	37	12	56486842	56486842	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56486842G>C	ENST00000267101.3	+	11	1696	c.1256G>C	c.(1255-1257)gGa>gCa	p.G419A	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.G360A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	419					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACAACCATTGGAGGCAGAAGC	0.478																																																	0													64.0	63.0	63.0					12																	56486842		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1256G>C	12.37:g.56486842G>C	ENSP00000267101:p.Gly419Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G419A	ENST00000267101.3	37	c.1256	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086488	0.36855	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.78707	-1.2;-1.2	5.06	2.05	0.26809	EGF receptor, L domain (1);	0.177858	0.37761	N	0.001947	T	0.73806	0.3634	M	0.77820	2.39	0.80722	D	1	B	0.17038	0.02	B	0.28709	0.093	T	0.62932	-0.6749	10	0.28530	T	0.3	.	5.6254	0.17480	0.1843:0.0:0.6592:0.1565	.	419	P21860	ERBB3_HUMAN	A	419;360	ENSP00000267101:G419A;ENSP00000408340:G360A	ENSP00000267101:G419A	G	+	2	0	ERBB3	54773109	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.540000	0.67205	0.260000	0.21731	-0.136000	0.14681	GGA	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.478	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56486842	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.999	C
ERCC6	2074	genome.wustl.edu	37	10	50678926	50678926	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:50678926G>C	ENST00000355832.5	-	18	3158	c.3080C>G	c.(3079-3081)tCa>tGa	p.S1027*	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Nonsense_Mutation_p.S397*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1027					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGAACATCTGATCCAGTTCC	0.363								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													113.0	117.0	116.0					10																	50678926		2203	4300	6503	SO:0001587	stop_gained	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3080C>G	10.37:g.50678926G>C	ENSP00000348089:p.Ser1027*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX94|Q5W0L9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1027*	ENST00000355832.5	37	c.3080	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.736793	0.98935	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-13.7174	18.5659	0.91116	0.0:0.0:1.0:0.0	.	.	.	.	X	1027;404;397	.	ENSP00000348089:S1027X	S	-	2	0	ERCC6	50348932	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.627000	0.74258	2.825000	0.97269	0.655000	0.94253	TCA	ERCC6	-	NULL		0.363	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	G	NM_000124		50678926	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ERLEC1	27248	genome.wustl.edu	37	2	54028725	54028725	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:54028725G>A	ENST00000185150.4	+	7	848	c.717G>A	c.(715-717)ttG>ttA	p.L239L	ERLEC1_ENST00000405123.3_Silent_p.L239L|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Silent_p.L239L|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	239					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTGTCATTTTGACACCACTCT	0.343																																																	0													68.0	60.0	63.0					2																	54028725		2203	4300	6503	SO:0001819	synonymous_variant	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.717G>A	2.37:g.54028725G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L239	ENST00000185150.4	37	c.717	CCDS1848.1	2																																																																																			ERLEC1	-	superfamily_Man6P_isomerase_rcpt-bd_dom		0.343	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	G	NM_015701		54028725	+1	no_errors	ENST00000185150	ensembl	human	known	70_37	silent	SNP	1.000	A
ESRRG	2104	genome.wustl.edu	37	1	216880805	216880805	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:216880805C>T	ENST00000408911.3	-	1	210				ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000366937.1_5'UTR|ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000391890.3_Intron|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000359162.2_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma						gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TAATTACATTCATGATGGGAA	0.393																																																	0																																										SO:0001627	intron_variant	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.56+15780G>A	1.37:g.216880805C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	RNA	SNP	-	NULL	ENST00000408911.3	37	NULL	CCDS41468.1	1																																																																																			ESRRG	-	-		0.393	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	C	NM_206595		216880805	-1	no_errors	ENST00000469913	ensembl	human	known	70_37	rna	SNP	0.001	T
ESYT1	23344	genome.wustl.edu	37	12	56531321	56531321	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56531321G>A	ENST00000394048.5	+	18	2241	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	ESYT1_ENST00000541590.1_Silent_p.L669L|ESYT1_ENST00000267113.4_Silent_p.L669L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	659	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCAGGACCTGATTGCCAAAG	0.547																																																	0													168.0	171.0	170.0					12																	56531321		2203	4300	6503	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1977G>A	12.37:g.56531321G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.L669	ENST00000394048.5	37	c.2007	CCDS8904.1	12																																																																																			ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.547	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	G	NM_015292		56531321	+1	no_errors	ENST00000267113	ensembl	human	known	70_37	silent	SNP	1.000	A
ETS2	2114	genome.wustl.edu	37	21	40184981	40184981	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:40184981C>G	ENST00000360214.3	+	4	587	c.127C>G	c.(127-129)Cta>Gta	p.L43V	ETS2_ENST00000360938.3_Missense_Mutation_p.L43V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	43					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTCCTTCTCTAAATGAAGA	0.403																																																	0													140.0	142.0	141.0					21																	40184981		2203	4300	6503	SO:0001583	missense	2114				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.127C>G	21.37:g.40184981C>G	ENSP00000353344:p.Leu43Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.L43V	ENST00000360214.3	37	c.127	CCDS13659.1	21	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924730	0.34002	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.52526	2.44;2.44;0.66;1.15	6.16	3.39	0.38822	.	0.405932	0.25253	N	0.032012	T	0.40423	0.1116	L	0.50333	1.59	0.09310	N	1	P;P	0.52463	0.877;0.953	B;P	0.47603	0.251;0.551	T	0.19063	-1.0317	10	0.11182	T	0.66	.	6.3296	0.21262	0.0:0.5527:0.2546:0.1927	.	43;43	P15036;C9JAG2	ETS2_HUMAN;.	V	43	ENSP00000353344:L43V;ENSP00000354194:L43V;ENSP00000401273:L43V;ENSP00000411086:L43V	ENSP00000353344:L43V	L	+	1	2	ETS2	39106851	0.008000	0.16893	0.069000	0.20011	0.984000	0.73092	0.217000	0.17603	0.935000	0.37341	0.650000	0.86243	CTA	ETS2	-	pirsf_Transforming_factor_C-ets		0.403	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS2	HGNC	protein_coding	OTTHUMT00000207544.1	C			40184981	+1	no_errors	ENST00000360214	ensembl	human	known	70_37	missense	SNP	0.026	G
ETV1	2115	genome.wustl.edu	37	7	13971147	13971147	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:13971147C>T	ENST00000430479.1	-	9	1449	c.782G>A	c.(781-783)aGa>aAa	p.R261K	ETV1_ENST00000405358.4_Missense_Mutation_p.R275K|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000420159.2_Missense_Mutation_p.R203K|ETV1_ENST00000403685.1_Missense_Mutation_p.R243K|ETV1_ENST00000399357.3_Missense_Mutation_p.R158K|ETV1_ENST00000405192.2_Missense_Mutation_p.R261K|ETV1_ENST00000405218.2_Missense_Mutation_p.R261K|ETV1_ENST00000403527.1_Missense_Mutation_p.R221K|ETV1_ENST00000343495.5_Missense_Mutation_p.R243K|ETV1_ENST00000242066.5_Missense_Mutation_p.R243K	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	261					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCAAAATCTCTGGGTTCCTG	0.493			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	0													80.0	80.0	80.0					7																	13971147		1922	4105	6027	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.782G>A	7.37:g.13971147C>T	ENSP00000405327:p.Arg261Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.R261K	ENST00000430479.1	37	c.782	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.641182	0.96693	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.222920	0.52532	D	0.000076	T	0.52565	0.1742	M	0.66939	2.045	0.80722	D	1	P;D;D;D;D;D;P;D	0.63046	0.906;0.991;0.992;0.959;0.962;0.967;0.938;0.988	P;P;D;D;D;D;P;P	0.76071	0.542;0.885;0.987;0.937;0.987;0.963;0.625;0.876	T	0.27773	-1.0064	10	0.39692	T	0.17	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	272;243;275;203;158;221;203;261	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	K	261;243;243;203;158;261;275;221;261;243;203;158	ENSP00000405327:R261K;ENSP00000242066:R243K;ENSP00000340853:R243K;ENSP00000411626:R203K;ENSP00000382293:R158K;ENSP00000385381:R261K;ENSP00000384085:R275K;ENSP00000384138:R221K;ENSP00000385551:R261K;ENSP00000385686:R243K;ENSP00000393078:R203K;ENSP00000394710:R158K	ENSP00000242066:R243K	R	-	2	0	ETV1	13937672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	AGA	ETV1	-	pfam_ETS_PEA3_N		0.493	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	C	NM_004956		13971147	-1	no_errors	ENST00000405218	ensembl	human	known	70_37	missense	SNP	1.000	T
EXD2	55218	genome.wustl.edu	37	14	69707600	69707600	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:69707600G>C	ENST00000409018.3	+	9	1777		c.e9-1		EXD2_ENST00000312994.5_Splice_Site|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000409014.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TGTTTTGGCAGAATCTCCAAT	0.552																																																	0													38.0	38.0	38.0					14																	69707600		2203	4300	6503	SO:0001630	splice_region_variant	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1650-1G>C	14.37:g.69707600G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Splice_Site	SNP	-	e8-1	ENST00000409018.3	37	c.1650-1	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662341	0.67700	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXD2	68777353	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	9.481000	0.97933	2.826000	0.97356	0.655000	0.94253	.	EXD2	-	-		0.552	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	G		Intron	69707600	+1	no_errors	ENST00000312994	ensembl	human	known	70_37	splice_site	SNP	1.000	C
EXOC3	11336	genome.wustl.edu	37	5	453673	453673	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:453673G>T	ENST00000512944.1	+	4	742	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	EXOC3_ENST00000315013.5_Missense_Mutation_p.D185Y	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	196					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGGCTCTCTGATGAGCTGGC	0.587																																																	0													63.0	66.0	65.0					5																	453673		2057	4201	6258	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.553G>T	5.37:g.453673G>T	ENSP00000425587:p.Asp185Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.D185Y	ENST00000512944.1	37	c.553	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729181	0.69074	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.08008	3.14;3.14	5.58	5.58	0.84498	.	0.245083	0.47093	D	0.000244	T	0.23054	0.0557	L	0.48642	1.525	0.58432	D	0.999992	P	0.47677	0.899	D	0.64237	0.923	T	0.00036	-1.2258	10	0.62326	D	0.03	-19.8139	17.0535	0.86526	0.0:0.0:1.0:0.0	.	196	O60645	EXOC3_HUMAN	Y	185;185;195	ENSP00000425587:D185Y;ENSP00000323377:D185Y	ENSP00000323377:D185Y	D	+	1	0	EXOC3	506673	1.000000	0.71417	0.120000	0.21714	0.977000	0.68977	7.511000	0.81718	2.641000	0.89580	0.561000	0.74099	GAT	EXOC3	-	pfam_Sec6		0.587	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	G	NM_007277		453673	+1	no_errors	ENST00000315013	ensembl	human	known	70_37	missense	SNP	0.974	T
EXOC3	11336	genome.wustl.edu	37	5	465238	465238	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:465238G>A	ENST00000512944.1	+	11	1978	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	EXOC3_ENST00000315013.5_Missense_Mutation_p.E597K|CTD-2228K2.5_ENST00000510714.1_5'Flank	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	608					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GATGACGGCCGAGGCGCACCG	0.692																																																	0													26.0	32.0	30.0					5																	465238		2026	4154	6180	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1789G>A	5.37:g.465238G>A	ENSP00000425587:p.Glu597Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.E597K	ENST00000512944.1	37	c.1789	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928301	0.34002	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.08720	3.06;3.06	4.61	4.61	0.57282	.	0.101956	0.64402	D	0.000004	T	0.08313	0.0207	L	0.46819	1.47	0.46849	D	0.999228	B	0.29037	0.231	B	0.29598	0.104	T	0.19976	-1.0289	10	0.28530	T	0.3	-36.4699	9.0419	0.36322	0.1023:0.0:0.8977:0.0	.	608	O60645	EXOC3_HUMAN	K	597;597;492	ENSP00000425587:E597K;ENSP00000323377:E597K	ENSP00000323377:E597K	E	+	1	0	EXOC3	518238	1.000000	0.71417	0.931000	0.37212	0.905000	0.53344	6.925000	0.75829	2.254000	0.74563	0.460000	0.39030	GAG	EXOC3	-	pfam_Sec6		0.692	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	G	NM_007277		465238	+1	no_errors	ENST00000315013	ensembl	human	known	70_37	missense	SNP	0.981	A
EXOC6	54536	genome.wustl.edu	37	10	94818001	94818001	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:94818001G>C	ENST00000260762.6	+	22	2318	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	RP11-348J12.2_ENST00000444965.1_RNA|EXOC6_ENST00000443748.2_Missense_Mutation_p.K665N|EXOC6_ENST00000371552.4_Missense_Mutation_p.K763N|EXOC6_ENST00000371547.4_Missense_Mutation_p.K784N	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	768					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTAGCAAAAAGAACAATATAT	0.363																																																	0													96.0	93.0	94.0					10																	94818001		2203	4300	6503	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2304G>C	10.37:g.94818001G>C	ENSP00000260762:p.Lys768Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.K784N	ENST00000260762.6	37	c.2352	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134277	0.77662	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.35789	1.67;1.69;1.29;1.69	5.95	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.77820	2.39	0.80722	D	1	D;B;D;P;D;D	0.67145	0.97;0.138;0.992;0.902;0.996;0.992	P;B;D;P;D;D	0.65684	0.791;0.131;0.937;0.829;0.937;0.909	T	0.65352	-0.6189	10	0.62326	D	0.03	-12.8345	15.1426	0.72623	0.0675:0.0:0.9325:0.0	.	784;665;760;721;768;763	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	N	784;763;665;768	ENSP00000360602:K784N;ENSP00000360607:K763N;ENSP00000396206:K665N;ENSP00000260762:K768N	ENSP00000260762:K768N	K	+	3	2	EXOC6	94807991	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.022000	0.88759	1.532000	0.49169	0.655000	0.94253	AAG	EXOC6	-	pirsf_Sec15		0.363	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94818001	+1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	C
EXOC6B	23233	genome.wustl.edu	37	2	72727091	72727091	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:72727091G>A	ENST00000272427.6	-	12	1308	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.S393F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	393					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTTTGGATCAGAACAGTAAGA	0.299																																																	0													59.0	51.0	53.0					2																	72727091		1815	4004	5819	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1178C>T	2.37:g.72727091G>A	ENSP00000272427:p.Ser393Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.S393F	ENST00000272427.6	37	c.1178	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197617	0.79015	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30981	1.51;1.51	5.16	5.16	0.70880	.	0.123114	0.56097	D	0.000024	T	0.36552	0.0971	L	0.42245	1.32	0.49483	D	0.999794	P;P	0.50943	0.94;0.905	P;P	0.49085	0.459;0.6	T	0.04635	-1.0937	10	0.46703	T	0.11	.	16.1933	0.82006	0.0:0.0:1.0:0.0	.	393;393	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	F	393	ENSP00000272427:S393F;ENSP00000386698:S393F	ENSP00000272427:S393F	S	-	2	0	EXOC6B	72580599	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.593000	0.67550	2.696000	0.92011	0.655000	0.94253	TCT	EXOC6B	-	pirsf_Sec15		0.299	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	G	XM_039570		72727091	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	missense	SNP	1.000	A
EZR	7430	genome.wustl.edu	37	6	159210339	159210339	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:159210339C>T	ENST00000367075.3	-	3	245	c.77G>A	c.(76-78)gGa>gAa	p.G26E	EZR_ENST00000337147.7_Missense_Mutation_p.G26E|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.G26E	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	26	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AAGCTGTTTTCCAGTTGTATT	0.383			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													100.0	92.0	95.0					6																	159210339		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.77G>A	6.37:g.159210339C>T	ENSP00000356042:p.Gly26Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.G26E	ENST00000367075.3	37	c.77	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567782	0.86439	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83075	-1.68;-1.68;-1.68	4.78	4.78	0.61160	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97093	0.9792	10	0.87932	D	0	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	26;26	E7EQR4;P15311	.;EZRI_HUMAN	E	26	ENSP00000338934:G26E;ENSP00000356042:G26E;ENSP00000376016:G26E	ENSP00000338934:G26E	G	-	2	0	EZR	159130327	1.000000	0.71417	0.246000	0.24233	0.998000	0.95712	7.223000	0.78033	2.637000	0.89404	0.555000	0.69702	GGA	EZR	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin		0.383	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159210339	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	0.999	T
FABP3	2170	genome.wustl.edu	37	1	31840308	31840308	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:31840308G>A	ENST00000373713.2	-	3	341	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	94					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TTCTGCAGGTGAACAAGTTTC	0.507																																																	0													212.0	192.0	199.0					1																	31840308		2203	4300	6503	SO:0001583	missense	2170			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.280C>T	1.37:g.31840308G>A	ENSP00000362817:p.His94Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.H94Y	ENST00000373713.2	37	c.280	CCDS342.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175209	0.57692	.	.	ENSG00000121769	ENST00000373713	T	0.08720	3.06	5.06	5.06	0.68205	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.048412	0.85682	D	0.000000	T	0.20292	0.0488	M	0.70275	2.135	0.80722	D	1	B	0.25667	0.131	B	0.39503	0.301	T	0.03034	-1.1080	10	0.72032	D	0.01	.	18.5693	0.91129	0.0:0.0:1.0:0.0	.	94	P05413	FABPH_HUMAN	Y	94	ENSP00000362817:H94Y	ENSP00000362817:H94Y	H	-	1	0	FABP3	31612895	1.000000	0.71417	0.925000	0.36789	0.350000	0.29205	9.633000	0.98432	2.782000	0.95742	0.655000	0.94253	CAC	FABP3	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.507	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP3	HGNC	protein_coding	OTTHUMT00000010683.1	G	NM_004102		31840308	-1	no_errors	ENST00000373713	ensembl	human	known	70_37	missense	SNP	1.000	A
FABP4	2167	genome.wustl.edu	37	8	82391026	82391026	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:82391026C>G	ENST00000256104.4	-	0	568				FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte						brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			ACAACAATATCTTTTTGAACA	0.348																																					NSCLC(35;550 1252 19644 48360)												0													127.0	118.0	121.0					8																	82391026		692	1591	2283	SO:0001624	3_prime_UTR_variant	2167			J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.*74G>C	8.37:g.82391026C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBA1	RNA	SNP	-	NULL	ENST00000256104.4	37	NULL	CCDS6230.1	8																																																																																			FABP4	-	-		0.348	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP4	HGNC	protein_coding	OTTHUMT00000379368.1	C	NM_001442		82391026	-1	no_errors	ENST00000518669	ensembl	human	known	70_37	rna	SNP	0.000	G
FAH	2184	genome.wustl.edu	37	15	80445464	80445464	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:80445464C>G	ENST00000407106.1	+	2	223	c.68C>G	c.(67-69)tCg>tGg	p.S23W	FAH_ENST00000539156.1_5'Flank|FAH_ENST00000561421.1_Missense_Mutation_p.S23W|FAH_ENST00000261755.5_Missense_Mutation_p.S23W			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	23					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCGTCTTCTCGACCAGAGGC	0.647									Tyrosinemia, type 1																																								0													70.0	66.0	67.0					15																	80445464		2203	4300	6503	SO:0001583	missense	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.68C>G	15.37:g.80445464C>G	ENSP00000385080:p.Ser23Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.S23W	ENST00000407106.1	37	c.68	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798938	0.90538	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755	D;D	0.87966	-2.32;-2.32	5.08	5.08	0.68730	Fumarylacetoacetase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97225	0.9880	10	0.87932	D	0	-26.4595	17.204	0.86913	0.0:1.0:0.0:0.0	.	23;23	B7Z4W2;P16930	.;FAAA_HUMAN	W	23	ENSP00000385080:S23W;ENSP00000261755:S23W	ENSP00000261755:S23W	S	+	2	0	FAH	78232519	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.953000	0.70290	2.357000	0.79964	0.491000	0.48974	TCG	FAH	-	pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase		0.647	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	C			80445464	+1	no_errors	ENST00000261755	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM117A	81558	genome.wustl.edu	37	17	47797793	47797793	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:47797793G>A	ENST00000240364.2	-	4	547	c.468C>T	c.(466-468)tcC>tcT	p.S156S	FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	156										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GCTTCAACTTGGAAATCTAGC	0.567																																																	0													69.0	63.0	65.0					17																	47797793		2203	4300	6503	SO:0001819	synonymous_variant	81558			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.468C>T	17.37:g.47797793G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7Q3	Silent	SNP	NULL	p.S156	ENST00000240364.2	37	c.468	CCDS11553.1	17																																																																																			FAM117A	-	NULL		0.567	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	G	NM_030802		47797793	-1	no_errors	ENST00000240364	ensembl	human	known	70_37	silent	SNP	1.000	A
FAM120B	84498	genome.wustl.edu	37	6	170626789	170626789	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:170626789G>A	ENST00000476287.1	+	2	419	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.R127Q|FAM120B_ENST00000540480.1_Missense_Mutation_p.R116Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	104					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGGTGAAACGAAGGCTCAAG	0.433																																																	0													89.0	85.0	86.0					6																	170626789		2203	4300	6503	SO:0001583	missense	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.311G>A	6.37:g.170626789G>A	ENSP00000417970:p.Arg104Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.R127Q	ENST00000476287.1	37	c.380	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433132	0.83776	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.57595	0.39;0.39;0.39	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67150	-0.5743	10	0.51188	T	0.08	-17.5851	19.4782	0.94998	0.0:0.0:1.0:0.0	.	104;104	Q96EK7;F2Z2E1	F120B_HUMAN;.	Q	116;127;104	ENSP00000444125:R116Q;ENSP00000440125:R127Q;ENSP00000417970:R104Q	ENSP00000436640:R104Q	R	+	2	0	FAM120B	170468714	1.000000	0.71417	0.553000	0.28255	0.485000	0.33311	8.700000	0.91322	2.838000	0.97847	0.655000	0.94253	CGA	FAM120B	-	NULL		0.433	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	G	NM_032448		170626789	+1	no_errors	ENST00000537664	ensembl	human	known	70_37	missense	SNP	0.999	A
AMER1	139285	genome.wustl.edu	37	X	63410667	63410667	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:63410667G>T	ENST00000330258.3	-	2	2772	c.2500C>A	c.(2500-2502)Ctt>Att	p.L834I	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	834					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GAGGCTGCAAGATCTTCATCA	0.522																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											39.0	40.0	40.0					X																	63410667		2190	4282	6472	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2500C>A	X.37:g.63410667G>T	ENSP00000329117:p.Leu834Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.L834I	ENST00000330258.3	37	c.2500	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007700	0.35415	.	.	ENSG00000184675	ENST00000330258	T	0.47528	0.84	4.4	4.4	0.53042	.	.	.	.	.	T	0.26521	0.0648	N	0.14661	0.345	0.80722	D	1	P	0.43750	0.816	B	0.40741	0.339	T	0.02126	-1.1209	8	.	.	.	-8.9243	4.8243	0.13408	0.1087:0.0:0.6779:0.2134	.	834	Q5JTC6	F123B_HUMAN	I	834	ENSP00000329117:L834I	.	L	-	1	0	FAM123B	63327392	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.424000	0.34848	2.453000	0.82957	0.529000	0.55759	CTT	FAM123B	-	NULL		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	G	NM_152424		63410667	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.991	T
AMER3	205147	genome.wustl.edu	37	2	131520159	131520159	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:131520159G>A	ENST00000423981.1	+	2	624	c.514G>A	c.(514-516)Gag>Aag	p.E172K	AMER3_ENST00000321420.4_Missense_Mutation_p.E172K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	172					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AAACAAGACTGAGGACTTGGC	0.627																																																	0													53.0	57.0	56.0					2																	131520159		2198	4296	6494	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.514G>A	2.37:g.131520159G>A	ENSP00000392700:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E172K	ENST00000423981.1	37	c.514	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815808	0.50527	.	.	ENSG00000178171	ENST00000321420;ENST00000458606;ENST00000423981	T;T;T	0.11930	2.73;2.73;2.73	5.21	5.21	0.72293	.	0.386214	0.27080	N	0.021034	T	0.15955	0.0384	L	0.34521	1.04	0.30094	N	0.808047	P	0.47484	0.896	P	0.47891	0.56	T	0.01945	-1.1242	10	0.59425	D	0.04	.	12.3821	0.55313	0.0:0.1697:0.8303:0.0	.	172	Q8N944	F123C_HUMAN	K	172	ENSP00000314914:E172K;ENSP00000389242:E172K;ENSP00000392700:E172K	ENSP00000314914:E172K	E	+	1	0	FAM123C	131236629	1.000000	0.71417	0.286000	0.24833	0.320000	0.28249	5.769000	0.68865	2.597000	0.87782	0.561000	0.74099	GAG	FAM123C	-	pfam_Uncharacterised_FAM123		0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	G	NM_152698		131520159	+1	no_errors	ENST00000321420	ensembl	human	known	70_37	missense	SNP	0.783	A
MVB12B	89853	genome.wustl.edu	37	9	129184194	129184194	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:129184194G>A	ENST00000361171.3	+	7	805	c.724G>A	c.(724-726)Gag>Aag	p.E242K	MVB12B_ENST00000436593.3_Missense_Mutation_p.E227K	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	242					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										GACGGACTACGAGTACCAGCA	0.567																																																	0													156.0	133.0	141.0					9																	129184194		2203	4300	6503	SO:0001583	missense	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.724G>A	9.37:g.129184194G>A	ENSP00000354772:p.Glu242Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6S7	Missense_Mutation	SNP	pfam_FAM125	p.E242K	ENST00000361171.3	37	c.724	CCDS35142.1	9	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564554	0.86439	.	.	ENSG00000196814	ENST00000361171;ENST00000436593	T;T	0.43294	0.95;0.95	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	L	0.58669	1.825	0.80722	D	1	D;D;D	0.63046	0.992;0.963;0.992	P;P;P	0.53649	0.731;0.548;0.731	T	0.49312	-0.8953	10	0.32370	T	0.25	-15.1442	18.8661	0.92293	0.0:0.0:1.0:0.0	.	227;111;242	B7Z1P9;Q9H7N7;Q9H7P6	.;.;F125B_HUMAN	K	242;227	ENSP00000354772:E242K;ENSP00000401379:E227K	ENSP00000354772:E242K	E	+	1	0	FAM125B	128224015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.473000	0.90410	2.526000	0.85167	0.585000	0.79938	GAG	FAM125B	-	pfam_FAM125		0.567	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM125B	HGNC	protein_coding	OTTHUMT00000054110.1	G	XM_088525		129184194	+1	no_errors	ENST00000361171	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM134A	79137	genome.wustl.edu	37	2	220047220	220047220	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:220047220G>C	ENST00000430297.2	+	9	1637	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	501						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGGAGCTGGAGCAGCTGAA	0.617																																																	0													62.0	65.0	64.0					2																	220047220		2203	4300	6503	SO:0001583	missense	79137			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1501G>C	2.37:g.220047220G>C	ENSP00000395249:p.Glu501Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.E501Q	ENST00000430297.2	37	c.1501	CCDS2434.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.461284|4.461284	0.84317|0.84317	.|.	.|.	ENSG00000144567|ENSG00000144567	ENST00000430297;ENST00000443518|ENST00000420189	T|.	0.48522|.	0.81|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.204664|.	0.41712|.	D|.	0.000824|.	T|T	0.75042|0.75042	0.3796|0.3796	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.66351|.	0.943;0.915|.	T|T	0.73196|0.73196	-0.4059|-0.4059	10|5	0.48119|.	T|.	0.1|.	-13.6773|-13.6773	19.012|19.012	0.92877|0.92877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	259;501|.	E7EUL4;Q8NC44|.	.;F134A_HUMAN|.	Q|A	501;259|160	ENSP00000395249:E501Q|.	ENSP00000395249:E501Q|.	E|G	+|+	1|2	0|0	FAM134A|FAM134A	219755464|219755464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.743000|8.743000	0.91592|0.91592	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GAG|GGA	FAM134A	-	NULL		0.617	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	G	NM_024293		220047220	+1	no_errors	ENST00000430297	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM13B	51306	genome.wustl.edu	37	5	137278833	137278833	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137278833C>T	ENST00000033079.3	-	20	2798	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K	FAM13B_ENST00000425075.2_Missense_Mutation_p.E659K|FAM13B_ENST00000420893.2_Missense_Mutation_p.E755K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	783					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TTGATTTCTTCAAAAAAATGT	0.353																																																	0													101.0	102.0	101.0					5																	137278833		2203	4300	6503	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2347G>A	5.37:g.137278833C>T	ENSP00000033079:p.Glu783Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E783K	ENST00000033079.3	37	c.2347	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573913	0.45902	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.23147	2.99;1.92;3.03	6.07	6.07	0.98685	.	0.098532	0.64402	D	0.000002	T	0.31606	0.0802	N	0.25286	0.73	0.53688	D	0.999979	D;B;D	0.67145	0.996;0.2;0.992	D;B;P	0.63192	0.912;0.09;0.82	T	0.02031	-1.1226	10	0.17369	T	0.5	-13.6304	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	659;755;783	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	K	783;659;755	ENSP00000033079:E783K;ENSP00000394669:E659K;ENSP00000388521:E755K	ENSP00000033079:E783K	E	-	1	0	FAM13B	137306732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.351000	0.79395	2.884000	0.98904	0.655000	0.94253	GAA	FAM13B	-	NULL		0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	C			137278833	-1	no_errors	ENST00000033079	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM160B1	57700	genome.wustl.edu	37	10	116603586	116603586	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:116603586G>C	ENST00000369248.4	+	7	1238	c.903G>C	c.(901-903)caG>caC	p.Q301H	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q301H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	301										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCTTACACAGAGCACTTGCT	0.478																																																	0													110.0	91.0	97.0					10																	116603586		2203	4300	6503	SO:0001583	missense	57700			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.903G>C	10.37:g.116603586G>C	ENSP00000358251:p.Gln301His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.Q301H	ENST00000369248.4	37	c.903	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611456	0.66558	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.31769	1.48;1.48	5.39	5.39	0.77823	.	0.101801	0.64402	D	0.000002	T	0.32793	0.0841	L	0.47190	1.495	0.80722	D	1	P;P	0.41214	0.725;0.742	P;B	0.45474	0.482;0.343	T	0.04333	-1.0959	10	0.46703	T	0.11	-11.6142	10.3203	0.43762	0.1206:0.0:0.8794:0.0	.	301;301	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	H	301	ENSP00000358251:Q301H;ENSP00000358253:Q301H	ENSP00000358251:Q301H	Q	+	3	2	FAM160B1	116593576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.774000	0.47694	2.526000	0.85167	0.655000	0.94253	CAG	FAM160B1	-	pfam_RetinoicA-induced_16-like		0.478	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	G	XM_049351		116603586	+1	no_errors	ENST00000369248	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM161B	145483	genome.wustl.edu	37	14	74409175	74409175	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:74409175C>G	ENST00000534936.1	-	4	1274	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T	FAM161B_ENST00000286544.3_Missense_Mutation_p.R453T			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	390										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTGGGTTTCTCTTCTTTTGGC	0.572																																																	0													158.0	144.0	149.0					14																	74409175		2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1169G>C	14.37:g.74409175C>G	ENSP00000445326:p.Arg390Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z882|J3KNA2	Missense_Mutation	SNP	pfam_UPF0564	p.R453T	ENST00000534936.1	37	c.1358		14	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709242	0.48517	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.25579	1.79;1.79	5.5	2.59	0.31030	.	0.393342	0.26217	N	0.025655	T	0.24275	0.0588	L	0.53729	1.69	0.09310	N	1	P	0.43788	0.817	P	0.44673	0.457	T	0.10776	-1.0615	10	0.48119	T	0.1	-14.2624	4.1385	0.10183	0.2744:0.483:0.0:0.2426	.	390	Q96MY7	F161B_HUMAN	T	453;390	ENSP00000286544:R453T;ENSP00000445326:R390T	ENSP00000286544:R453T	R	-	2	0	FAM161B	73478928	0.974000	0.33945	0.989000	0.46669	0.971000	0.66376	0.673000	0.25203	0.382000	0.24878	0.655000	0.94253	AGA	FAM161B	-	pfam_UPF0564		0.572	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	FAM161B	HGNC	protein_coding		C	NM_152445		74409175	-1	no_errors	ENST00000286544	ensembl	human	known	70_37	missense	SNP	0.012	G
FAM168B	130074	genome.wustl.edu	37	2	131840217	131840217	+	Start_Codon_SNP	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:131840217C>T	ENST00000409185.1	-	2	110	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM168B_ENST00000389915.3_Start_Codon_SNP_p.M1I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	1						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						AAACAGGATTCATGATTTCAA	0.363																																																	0													44.0	38.0	39.0					2																	131840217		1799	4074	5873	SO:0001582	initiator_codon_variant	130074				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.3G>A	2.37:g.131840217C>T	ENSP00000387051:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	NULL	p.M1I	ENST00000409185.1	37	c.3	CCDS42755.1	2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355656	0.61293	.	.	ENSG00000152102	ENST00000409185;ENST00000354183;ENST00000389915	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.24269	0.052	T	0.57093	-0.7870	8	0.66056	D	0.02	-19.8521	17.7591	0.88459	0.0:1.0:0.0:0.0	.	1	A1KXE4	F168B_HUMAN	I	1	.	ENSP00000346115:M1I	M	-	3	0	FAM168B	131556687	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.308000	0.65768	2.854000	0.98071	0.655000	0.94253	ATG	FAM168B	-	NULL		0.363	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM168B	HGNC	protein_coding	OTTHUMT00000331299.2	C	NM_001009993	Missense_Mutation	131840217	-1	no_errors	ENST00000389915	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM171A2	284069	genome.wustl.edu	37	17	42432488	42432488	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42432488C>G	ENST00000293443.7	-	8	1254	c.1094G>C	c.(1093-1095)cGa>cCa	p.R365P		NM_198475.2	NP_940877.2	A8MVW0	F1712_HUMAN	family with sequence similarity 171, member A2	365						integral component of membrane (GO:0016021)											GGCCTGGTCTCGTTTGTTACC	0.697																																																	0													30.0	30.0	30.0					17																	42432488		692	1591	2283	SO:0001583	missense	284069				CCDS45701.1	17q21.31	2008-06-16			ENSG00000161682	ENSG00000161682			30480	protein-coding gene	gene with protein product						12477932	Standard	NM_198475		Approved	MGC34829	uc002igs.2	A8MVW0	OTTHUMG00000132421	ENST00000293443.7:c.1094G>C	17.37:g.42432488C>G	ENSP00000293443:p.Arg365Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB4	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom	p.R365P	ENST00000293443.7	37	c.1094	CCDS45701.1	17	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895678	0.72639	.	.	ENSG00000161682	ENST00000293443	T	0.39056	1.1	5.25	4.07	0.47477	.	0.090469	0.39083	U	0.001466	T	0.53061	0.1773	L	0.49126	1.545	0.40129	D	0.97669	D	0.60575	0.988	D	0.63793	0.918	T	0.56547	-0.7961	10	0.87932	D	0	-5.6158	10.6074	0.45402	0.0:0.8501:0.0:0.1499	.	365	A8MVW0	F1712_HUMAN	P	365	ENSP00000293443:R365P	ENSP00000293443:R365P	R	-	2	0	FAM171A2	39788014	0.940000	0.31905	1.000000	0.80357	0.986000	0.74619	0.831000	0.27476	2.459000	0.83118	0.448000	0.29417	CGA	FAM171A2	-	pfam_Uncharacterised_FAM171		0.697	FAM171A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A2	HGNC	protein_coding	OTTHUMT00000255559.2	C	NM_198475		42432488	-1	no_errors	ENST00000293443	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM177A1	283635	genome.wustl.edu	37	14	35548163	35548163	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:35548163C>G	ENST00000382406.3	+	5	425	c.368C>G	c.(367-369)tCt>tGt	p.S123C	FAM177A1_ENST00000396472.1_Missense_Mutation_p.S123C|FAM177A1_ENST00000280987.4_Missense_Mutation_p.S146C			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	123										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AAGATTGCATCTGTTTTGGGT	0.343																																																	0													120.0	109.0	113.0					14																	35548163		2203	4300	6503	SO:0001583	missense	283635			BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 24"""	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.368C>G	14.37:g.35548163C>G	ENSP00000371843:p.Ser123Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CT2	Missense_Mutation	SNP	NULL	p.S146C	ENST00000382406.3	37	c.437	CCDS41944.1	14	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662097	0.88251	.	.	ENSG00000151327	ENST00000396472;ENST00000382406;ENST00000280987;ENST00000554794	.	.	.	5.84	5.84	0.93424	.	0.110075	0.64402	D	0.000004	T	0.80602	0.4654	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81575	-0.0870	9	0.66056	D	0.02	.	18.334	0.90280	0.0:1.0:0.0:0.0	.	146;123	Q8N128-2;Q8N128	.;F177A_HUMAN	C	123;123;146;91	.	ENSP00000280987:S146C	S	+	2	0	FAM177A1	34617914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.764000	0.94973	0.650000	0.86243	TCT	FAM177A1	-	NULL		0.343	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM177A1	HGNC	protein_coding	OTTHUMT00000410816.1	C	NM_173607		35548163	+1	no_errors	ENST00000280987	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM179A	165186	genome.wustl.edu	37	2	29225407	29225407	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:29225407C>G	ENST00000379558.4	+	5	784	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	FAM179A_ENST00000403861.2_Missense_Mutation_p.L145V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	145										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACAGCCTCTCTGGATCCAGG	0.627																																																	0													21.0	23.0	23.0					2																	29225407		1905	4114	6019	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.433C>G	2.37:g.29225407C>G	ENSP00000368876:p.Leu145Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.L145V	ENST00000379558.4	37	c.433	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895660	0.33442	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.17854	2.57;2.25	5.18	3.11	0.35812	.	.	.	.	.	T	0.20251	0.0487	L	0.29908	0.895	0.21416	N	0.999699	D;D	0.62365	0.987;0.991	P;P	0.59056	0.851;0.787	T	0.08722	-1.0708	9	0.34782	T	0.22	.	4.937	0.13946	0.0:0.6954:0.0:0.3046	.	145;145	F8W8E4;Q6ZUX3	.;F179A_HUMAN	V	145	ENSP00000368876:L145V;ENSP00000384699:L145V	ENSP00000368876:L145V	L	+	1	2	FAM179A	29078911	0.038000	0.19896	0.741000	0.31004	0.042000	0.13812	0.114000	0.15520	1.182000	0.42928	0.555000	0.69702	CTG	FAM179A	-	NULL		0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29225407	+1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.691	G
FAM179A	165186	genome.wustl.edu	37	2	29247043	29247043	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:29247043C>G	ENST00000379558.4	+	13	2007	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	FAM179A_ENST00000403861.2_Missense_Mutation_p.I497M|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	552										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCTGGCCATCAGCACCTTGG	0.617																																																	0													23.0	24.0	24.0					2																	29247043		1978	4150	6128	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1656C>G	2.37:g.29247043C>G	ENSP00000368876:p.Ile552Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.I552M	ENST00000379558.4	37	c.1656	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303832	0.40795	.	.	ENSG00000189350	ENST00000379558;ENST00000403861;ENST00000440012	T;T;T	0.44482	0.92;0.92;0.92	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.64402	D	0.000004	T	0.56396	0.1982	L	0.58810	1.83	0.35833	D	0.825453	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64630	-0.6362	10	0.46703	T	0.11	.	8.8098	0.34961	0.0:0.829:0.0:0.1709	.	497;552	F8W8E4;Q6ZUX3	.;F179A_HUMAN	M	552;497;47	ENSP00000368876:I552M;ENSP00000384699:I497M;ENSP00000396739:I47M	ENSP00000368876:I552M	I	+	3	3	FAM179A	29100547	0.987000	0.35691	0.999000	0.59377	0.615000	0.37417	1.245000	0.32790	2.262000	0.75019	0.462000	0.41574	ATC	FAM179A	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.617	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29247043	+1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.998	G
FAM179B	23116	genome.wustl.edu	37	14	45432442	45432442	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:45432442C>G	ENST00000361577.3	+	1	1032	c.818C>G	c.(817-819)tCt>tGt	p.S273C	KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.S273C|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.S273C	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	273										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGAAGAATCTGAGACAGCT	0.488																																																	0													86.0	92.0	90.0					14																	45432442		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.818C>G	14.37:g.45432442C>G	ENSP00000355045:p.Ser273Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S273C	ENST00000361577.3	37	c.818	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932000	0.34096	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.65549	1.43;1.43;-0.16	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.862331	0.09865	N	0.745699	T	0.48572	0.1507	N	0.14661	0.345	0.27774	N	0.943394	P;P;P;P	0.48503	0.755;0.911;0.547;0.547	B;P;B;B	0.46479	0.416;0.518;0.416;0.416	T	0.40664	-0.9551	10	0.72032	D	0.01	-1.4967	6.3333	0.21282	0.0:0.7122:0.1819:0.1059	.	273;273;273;273	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	C	273	ENSP00000355045:S273C;ENSP00000354917:S273C;ENSP00000371668:S273C	ENSP00000354917:S273C	S	+	2	0	FAM179B	44502192	0.190000	0.23276	0.996000	0.52242	0.997000	0.91878	1.616000	0.36933	1.286000	0.44565	0.561000	0.74099	TCT	FAM179B	-	superfamily_ARM-type_fold		0.488	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	C	XM_113781		45432442	+1	no_errors	ENST00000361577	ensembl	human	known	70_37	missense	SNP	0.985	G
FAM182B	728882	genome.wustl.edu	37	20	25745581	25745581	+	5'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:25745581C>G	ENST00000478164.1	-	0	701				FAM182B_ENST00000376404.2_3'UTR			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						CAAATCCACTCTCCCTAGACT	0.517																																																	0																																										SO:0001623	5_prime_UTR_variant	728882					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000478164.1:c.-291G>C	20.37:g.25745581C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0Q1	RNA	SNP	-	NULL	ENST00000478164.1	37	NULL		20																																																																																			FAM182B	-	-		0.517	FAM182B-005	KNOWN	basic	processed_transcript	FAM182B	HGNC	protein_coding	OTTHUMT00000316665.1	C	NR_026714		25745581	-1	no_errors	ENST00000478164	ensembl	human	known	70_37	rna	SNP	0.044	G
FAM185A	222234	genome.wustl.edu	37	7	102389811	102389811	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:102389811G>A	ENST00000413034.2	+	1	157	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FAM185A_ENST00000481697.1_3'UTR|FAM185A_ENST00000409231.3_Missense_Mutation_p.E53K	NM_001145268.1	NP_001138740	Q8N0U4	F185A_HUMAN	family with sequence similarity 185, member A	53										kidney(1)	1						ATCGGAGACTGAGGTCCCTCC	0.721																																																	0													6.0	9.0	8.0					7																	102389811		674	1562	2236	SO:0001583	missense	222234			BC029175	CCDS47676.1, CCDS47677.1	7q22.1	2009-07-09			ENSG00000222011	ENSG00000222011			22412	protein-coding gene	gene with protein product							Standard	NM_001145268		Approved	MGC35361	uc011klf.2	Q8N0U4	OTTHUMG00000154140	ENST00000413034.2:c.157G>A	7.37:g.102389811G>A	ENSP00000395340:p.Glu53Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUR7|B4DQD3|C9IZ91	Missense_Mutation	SNP	NULL	p.E53K	ENST00000413034.2	37	c.157	CCDS47676.1	7	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266694	0.40095	.	.	ENSG00000222011	ENST00000409231;ENST00000418198;ENST00000413034	T;T;T	0.74842	-0.88;-0.88;-0.88	2.48	-1.93	0.07594	.	1.993500	0.02569	N	0.097578	T	0.66597	0.2805	L	0.51422	1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48234	-0.9053	10	0.59425	D	0.04	-0.2948	3.8428	0.08922	0.27:0.3995:0.3305:0.0	.	53;53	Q8N0U4-3;Q8N0U4	.;F185A_HUMAN	K	53	ENSP00000387066:E53K;ENSP00000410034:E53K;ENSP00000395340:E53K	ENSP00000387066:E53K	E	+	1	0	FAM185A	102177047	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.160000	0.16462	-0.512000	0.06505	-0.385000	0.06624	GAG	FAM185A	-	NULL		0.721	FAM185A-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM185A	HGNC	protein_coding	OTTHUMT00000349482.1	G	NM_001145268		102389811	+1	no_errors	ENST00000413034	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM199X	139231	genome.wustl.edu	37	X	103434445	103434445	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:103434445G>C	ENST00000493442.1	+	6	1319	c.1153G>C	c.(1153-1155)Gat>Cat	p.D385H	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	385										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGCAGATGTTGATGTTTTGAT	0.438																																																	0													142.0	118.0	126.0					X																	103434445		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.1153G>C	X.37:g.103434445G>C	ENSP00000417581:p.Asp385His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.D385H	ENST00000493442.1	37	c.1153	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966795	0.74131	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75575	-0.3270	8	.	.	.	-7.6998	16.8393	0.85964	0.0:0.0:1.0:0.0	.	342;385	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	H	385	.	.	D	+	1	0	FAM199X	103321101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.269000	0.75478	0.594000	0.82650	GAT	FAM199X	-	NULL		0.438	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	G	NM_207318		103434445	+1	no_errors	ENST00000493442	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM200B	285550	genome.wustl.edu	37	4	15688706	15688706	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:15688706G>A	ENST00000422728.2	+	2	944	c.106G>A	c.(106-108)Gag>Aag	p.E36K	FAM200B_ENST00000504137.1_3'UTR	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	36							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						tgacaatattgagaaaaatac	0.299																																																	0													54.0	47.0	49.0					4																	15688706		692	1586	2278	SO:0001583	missense	285550			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.106G>A	4.37:g.15688706G>A	ENSP00000393017:p.Glu36Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_RNaseH-like_dom,superfamily_PAH	p.E36K	ENST00000422728.2	37	c.106	CCDS47028.1	4	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358754	0.24598	.	.	ENSG00000237765	ENST00000422728	T	0.13778	2.56	3.5	2.62	0.31277	.	.	.	.	.	T	0.05181	0.0138	N	0.03608	-0.345	0.09310	N	1	B	0.34290	0.447	B	0.30646	0.118	T	0.38457	-0.9660	9	0.17369	T	0.5	.	8.6834	0.34223	0.0:0.2343:0.7657:0.0	.	36	P0CF97	F200B_HUMAN	K	36	ENSP00000393017:E36K	ENSP00000393017:E36K	E	+	1	0	FAM200B	15297804	0.138000	0.22547	0.126000	0.21872	0.694000	0.40290	0.198000	0.17217	1.009000	0.39289	0.650000	0.86243	GAG	FAM200B	-	NULL		0.299	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	G	NM_001145191		15688706	+1	no_errors	ENST00000422728	ensembl	human	putative	70_37	missense	SNP	0.207	A
FAM208B	54906	genome.wustl.edu	37	10	5790636	5790636	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:5790636C>T	ENST00000328090.5	+	15	5877	c.5252C>T	c.(5251-5253)tCc>tTc	p.S1751F		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1751																	GGGGTTTCCTCCCTTTGTGCT	0.448																																																	0													74.0	74.0	74.0					10																	5790636		1981	4170	6151	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5252C>T	10.37:g.5790636C>T	ENSP00000328426:p.Ser1751Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.S1751F	ENST00000328090.5	37	c.5252	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882375	0.33255	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05081	3.5	5.58	3.73	0.42828	.	1.424010	0.04024	N	0.300238	T	0.06371	0.0164	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37663	-0.9696	10	0.46703	T	0.11	.	8.632	0.33926	0.0:0.8235:0.0:0.1765	.	1751	Q5VWN6	F208B_HUMAN	F	1751;946	ENSP00000328426:S1751F	ENSP00000328426:S1751F	S	+	2	0	C10orf18	5830642	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.365000	0.20348	0.727000	0.32360	0.563000	0.77884	TCC	FAM208B	-	NULL		0.448	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5790636	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.001	T
FAM20A	54757	genome.wustl.edu	37	17	66551867	66551867	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:66551867C>G	ENST00000592554.1	-	2	1144	c.422G>C	c.(421-423)aGa>aCa	p.R141T	FAM20A_ENST00000226094.5_5'UTR|RP11-120M18.5_ENST00000589826.1_lincRNA	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	141					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CATCTGCTCTCTGTACATCTT	0.507																																																	0													75.0	64.0	67.0					17																	66551867		2203	4300	6503	SO:0001583	missense	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.422G>C	17.37:g.66551867C>G	ENSP00000468308:p.Arg141Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	pfam_DUF1193	p.R141T	ENST00000592554.1	37	c.422	CCDS11679.1	17	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836303	0.32421	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.84	-7.58	0.01313	.	0.654614	0.15285	N	0.270456	T	0.31071	0.0785	L	0.33485	1.01	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.16129	-1.0413	9	0.16896	T	0.51	-1.2548	17.5839	0.87976	0.0:0.8321:0.0:0.1679	.	141	Q96MK3	FA20A_HUMAN	T	141	.	ENSP00000226094:R141T	R	-	2	0	FAM20A	64063462	0.000000	0.05858	0.245000	0.24217	0.968000	0.65278	-0.896000	0.04114	-1.221000	0.02591	-0.258000	0.10820	AGA	FAM20A	-	NULL		0.507	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	C	NM_017565		66551867	-1	no_errors	ENST00000592554	ensembl	human	known	70_37	missense	SNP	0.102	G
FAM214A	56204	genome.wustl.edu	37	15	52892428	52892428	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52892428G>T	ENST00000261844.7	-	9	2697	c.2545C>A	c.(2545-2547)Cga>Aga	p.R849R	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Silent_p.R856R	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	849																	AAACATGGTCGAGGACTATTA	0.368																																																	0													77.0	73.0	74.0					15																	52892428		1831	4079	5910	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2545C>A	15.37:g.52892428G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.R849	ENST00000261844.7	37	c.2545	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.368	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	G	NM_019600		52892428	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.987	T
FAM214A	56204	genome.wustl.edu	37	15	52902402	52902402	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52902402C>G	ENST00000261844.7	-	6	861	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.E244Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	237																	ATTCTTTTCTCATAAAGGCCA	0.383																																																	0													173.0	150.0	157.0					15																	52902402		1907	4136	6043	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.709G>C	15.37:g.52902402C>G	ENSP00000261844:p.Glu237Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.E237Q	ENST00000261844.7	37	c.709	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927900	0.52759	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.36699	1.25;1.24	5.18	5.18	0.71444	.	0.237418	0.44483	D	0.000454	T	0.61924	0.2386	M	0.72118	2.19	0.37451	D	0.914835	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68830	-0.5305	10	0.72032	D	0.01	.	19.0806	0.93180	0.0:1.0:0.0:0.0	.	244;237	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	237;237;236;244	ENSP00000261844:E237Q;ENSP00000443598:E244Q	ENSP00000261844:E237Q	E	-	1	0	KIAA1370	50689694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.269000	0.65542	2.560000	0.86352	0.650000	0.86243	GAG	FAM214A	-	NULL		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52902402	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM26D	221301	genome.wustl.edu	37	6	116875034	116875034	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:116875034G>C	ENST00000368596.3	+	1	122	c.78G>C	c.(76-78)ttG>ttC	p.L26F	FAM26D_ENST00000405399.1_Intron|FAM26D_ENST00000416171.2_Intron|FAM26D_ENST00000368597.2_Intron			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	26					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TTGCAGCCTTGACTATTGGTG	0.388																																																	0																																										SO:0001583	missense	221301			AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.78G>C	6.37:g.116875034G>C	ENSP00000357585:p.Leu26Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	NULL	p.L26F	ENST00000368596.3	37	c.78		6	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452413	0.26074	.	.	ENSG00000164451	ENST00000368596	T	0.24151	1.87	5.91	3.82	0.43975	.	0.134260	0.33854	N	0.004483	T	0.25754	0.0627	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01966	-1.1238	7	0.41790	T	0.15	-41.8425	13.1421	0.59440	0.1508:0.0:0.8492:0.0	.	.	.	.	F	26	ENSP00000357585:L26F	ENSP00000357585:L26F	L	+	3	2	FAM26D	116981727	1.000000	0.71417	0.901000	0.35422	0.034000	0.12701	2.800000	0.47900	1.506000	0.48736	0.655000	0.94253	TTG	FAM26D	-	NULL		0.388	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	FAM26D	HGNC	protein_coding	OTTHUMT00000041958.1	G	NM_153036		116875034	+1	no_errors	ENST00000368596	ensembl	human	known	70_37	missense	SNP	1.000	C
SUPT20H	55578	genome.wustl.edu	37	13	37603941	37603941	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:37603941G>C	ENST00000350612.6	-	13	1174	c.954C>G	c.(952-954)atC>atG	p.I318M	SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000356185.3_Missense_Mutation_p.I319M|SUPT20H_ENST00000360252.4_Missense_Mutation_p.I319M|SUPT20H_ENST00000464744.1_Missense_Mutation_p.I319M|SUPT20H_ENST00000475892.1_Missense_Mutation_p.I318M	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	318					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CATCAGATTTGATAGACTTTT	0.358																																																	0													132.0	124.0	126.0					13																	37603941		2203	4300	6503	SO:0001583	missense	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.954C>G	13.37:g.37603941G>C	ENSP00000218894:p.Ile318Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.I318M	ENST00000350612.6	37	c.954	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628218	0.46944	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	T;T;T;T;T	0.46819	0.86;0.87;1.44;0.86;0.86	5.56	3.74	0.42951	.	0.068304	0.64402	D	0.000007	T	0.53045	0.1772	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P	0.46912	0.69;0.886;0.806;0.878;0.806	B;P;P;P;P	0.51016	0.335;0.454;0.454;0.656;0.454	T	0.50651	-0.8803	10	0.46703	T	0.11	-6.9606	11.3356	0.49503	0.1537:0.0:0.8463:0.0	.	318;318;319;319;318	B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;FA48A_HUMAN	M	319;318;318;319;318;319	ENSP00000353388:I319M;ENSP00000417510:I318M;ENSP00000218894:I318M;ENSP00000348512:I319M;ENSP00000419754:I319M	ENSP00000218894:I318M	I	-	3	3	FAM48A	36501941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.377000	0.44300	0.635000	0.30488	0.650000	0.86243	ATC	FAM48A	-	NULL		0.358	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	G	NM_017569		37603941	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM49A	81553	genome.wustl.edu	37	2	16742802	16742802	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:16742802C>G	ENST00000381323.3	-	7	656		c.e7-1		FAM49A_ENST00000406434.1_Splice_Site|FAM49A_ENST00000355549.2_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGTTCCTCATCTGAAATTCAG	0.468																																																	0													92.0	83.0	86.0					2																	16742802		2203	4300	6503	SO:0001630	splice_region_variant	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.436-1G>C	2.37:g.16742802C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNZ1|Q53QW2	Splice_Site	SNP	-	e5-1	ENST00000381323.3	37	c.436-1	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244977	0.79912	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2124	0.93763	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM49A	16606283	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	.	FAM49A	-	-		0.468	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	C	NM_030797	Intron	16742802	-1	no_errors	ENST00000355549	ensembl	human	known	70_37	splice_site	SNP	1.000	G
BRINP3	339479	genome.wustl.edu	37	1	190130001	190130001	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:190130001C>T	ENST00000367462.3	-	7	1212	c.981G>A	c.(979-981)atG>atA	p.M327I	BRINP3_ENST00000534846.1_Missense_Mutation_p.M225I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	327					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTAGCCTTTTCATAAATAACT	0.289																																																	0													70.0	77.0	74.0					1																	190130001		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.981G>A	1.37:g.190130001C>T	ENSP00000356432:p.Met327Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.M327I	ENST00000367462.3	37	c.981	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484276	0.63962	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.16897	2.58;2.31	5.75	5.75	0.90469	.	0.151595	0.64402	D	0.000013	T	0.26846	0.0657	L	0.39898	1.24	0.37754	D	0.926079	P;B	0.39044	0.656;0.028	P;B	0.48627	0.584;0.011	T	0.02184	-1.1199	10	0.62326	D	0.03	.	17.4294	0.87535	0.0:1.0:0.0:0.0	.	225;327	B7Z260;Q76B58	.;FAM5C_HUMAN	I	327;225	ENSP00000356432:M327I;ENSP00000438022:M225I	ENSP00000356432:M327I	M	-	3	0	FAM5C	188396624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.849000	0.48286	2.718000	0.92993	0.573000	0.79308	ATG	FAM5C	-	NULL		0.289	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	C	NM_199051		190130001	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM255B	348013	genome.wustl.edu	37	13	114502863	114502863	+	Intron	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:114502863C>A	ENST00000375353.3	+	5	450					NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B							integral component of membrane (GO:0016021)											GGGCACAGCTCTGTGACGGCG	0.617																																																	0																																										SO:0001627	intron_variant	348013			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.423+471C>A	13.37:g.114502863C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000375353.3	37	NULL	CCDS45071.1	13																																																																																			FAM70B	-	-		0.617	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM70B	HGNC	protein_coding	OTTHUMT00000045953.4	C	NM_182614		114502863	+1	no_errors	ENST00000498692	ensembl	human	known	70_37	rna	SNP	0.002	A
FAM71B	153745	genome.wustl.edu	37	5	156589943	156589943	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	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	Somatic		WXS	Illumina HiSeq	Phase_IV	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
FAM71E2	284418	genome.wustl.edu	37	19	55873756	55873756	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55873756C>G	ENST00000424985.3	-	3	614	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	CTD-2105E13.6_ENST00000591954.3_5'Flank	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	141										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						AAGCCCACCTCGTTGTCAGGG	0.687																																																	0													20.0	23.0	22.0					19																	55873756		692	1591	2283	SO:0001583	missense	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.421G>C	19.37:g.55873756C>G	ENSP00000398617:p.Glu141Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8ND99	Missense_Mutation	SNP	pfam_DUF3699	p.E141Q	ENST00000424985.3	37	c.421		19	.	.	.	.	.	.	.	.	.	.	N	12.74	2.029844	0.35797	.	.	ENSG00000180043	ENST00000424985	T	0.19394	2.15	3.78	3.78	0.43462	.	0.424697	0.19166	U	0.121068	T	0.40546	0.1121	L	0.56769	1.78	0.20873	N	0.999835	D	0.89917	1.0	D	0.91635	0.999	T	0.07829	-1.0752	10	0.59425	D	0.04	-23.2318	11.8993	0.52673	0.0:1.0:0.0:0.0	.	141	Q8N5Q1	F71E2_HUMAN	Q	141	ENSP00000398617:E141Q	ENSP00000398617:E141Q	E	-	1	0	FAM71E2	60565568	0.778000	0.28640	0.094000	0.20943	0.004000	0.04260	3.804000	0.55568	2.058000	0.61347	0.550000	0.68814	GAG	FAM71E2	-	pfam_DUF3699		0.687	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	C	NM_001145402		55873756	-1	no_errors	ENST00000424985	ensembl	human	novel	70_37	missense	SNP	0.506	G
FAM73A	374986	genome.wustl.edu	37	1	78245412	78245412	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:78245412G>A	ENST00000370791.3	+	1	104	c.72G>A	c.(70-72)ctG>ctA	p.L24L	RNA5SP21_ENST00000410917.1_RNA|FAM73A_ENST00000443751.2_Silent_p.L24L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	24						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TACCTGGCCTGGAGCTCCAGG	0.701																																																	0													5.0	5.0	5.0					1																	78245412		2140	4163	6303	SO:0001819	synonymous_variant	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.72G>A	1.37:g.78245412G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZG0	Silent	SNP	pfam_DUF2217	p.L24	ENST00000370791.3	37	c.72	CCDS681.1	1																																																																																			FAM73A	-	NULL		0.701	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	G	NM_198549		78245412	+1	no_errors	ENST00000370791	ensembl	human	known	70_37	silent	SNP	0.169	A
RMDN1	51115	genome.wustl.edu	37	8	87498804	87498804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:87498804G>C	ENST00000406452.3	-	4	563	c.404C>G	c.(403-405)tCa>tGa	p.S135*	RMDN1_ENST00000430676.2_Nonsense_Mutation_p.S135*|RMDN1_ENST00000519966.1_Nonsense_Mutation_p.S135*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.S91*|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	135						microtubule (GO:0005874)|mitochondrion (GO:0005739)											CTCCTCTTCTGAGGTTCTGCT	0.388																																																	0													131.0	116.0	121.0					8																	87498804		2203	4300	6503	SO:0001587	stop_gained	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.404C>G	8.37:g.87498804G>C	ENSP00000385927:p.Ser135*	Somatic		WXS	Illumina HiSeq	Phase_IV	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Nonsense_Mutation	SNP	NULL	p.S135*	ENST00000406452.3	37	c.404	CCDS34918.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.613533	0.96637	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	.	.	.	5.88	5.88	0.94601	.	0.289393	0.34879	N	0.003620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.0689	20.2381	0.98363	0.0:0.0:1.0:0.0	.	.	.	.	X	135;91;135;135;91	.	ENSP00000385927:S135X	S	-	2	0	FAM82B	87567920	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	6.587000	0.74071	2.779000	0.95612	0.650000	0.86243	TCA	FAM82B	-	NULL		0.388	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82B	HGNC	protein_coding	OTTHUMT00000374770.2	G	NM_016033		87498804	-1	no_errors	ENST00000406452	ensembl	human	known	70_37	nonsense	SNP	0.989	C
FAM86DP	692099	genome.wustl.edu	37	3	75472072	75472072	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:75472072G>A	ENST00000459803.1	-	0	1069					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		CCATGAGATTGACTTGATTCT	0.413																																																	0																																												692099			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75472072G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-		0.413	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1	G	NR_024241		75472072	-1	no_errors	ENST00000459803	ensembl	human	known	70_37	rna	SNP	0.001	A
FAM96A	84191	genome.wustl.edu	37	15	64367720	64367720	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:64367720G>C	ENST00000300030.3	-	4	605	c.356C>G	c.(355-357)tCt>tGt	p.S119C	FAM96A_ENST00000558779.1_5'Flank|FAM96A_ENST00000557835.1_Missense_Mutation_p.F102L|FAM96A_ENST00000559950.1_Missense_Mutation_p.S119C|FAM96A_ENST00000380290.3_Missense_Mutation_p.F102L	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	119					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGTTCCTTCAGAAATGTAGAT	0.313																																																	0													99.0	97.0	97.0					15																	64367720		2203	4300	6503	SO:0001583	missense	84191				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.356C>G	15.37:g.64367720G>C	ENSP00000300030:p.Ser119Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	pfam_DUF59	p.S119C	ENST00000300030.3	37	c.356	CCDS10189.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.85|19.85	3.903862|3.903862	0.72754|0.72754	.|.	.|.	ENSG00000166797|ENSG00000166797	ENST00000380290|ENST00000300030	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061093	.|0.64402	.|D	.|0.000002	T|T	0.71736|0.71736	0.3375|0.3375	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999988|0.999988	B|D	0.12630|0.67145	0.006|0.996	B|P	0.09377|0.54372	0.004|0.75	T|T	0.75422|0.75422	-0.3323|-0.3323	7|8	0.87932|0.59425	D|D	0|0.04	-18.7053|-18.7053	15.8396|15.8396	0.78835|0.78835	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102|119	B7Z8Z5|Q9H5X1	.|FA96A_HUMAN	L|C	102|119	.|.	ENSP00000369644:F102L|ENSP00000300030:S119C	F|S	-|-	3|2	2|0	FAM96A|FAM96A	62154773|62154773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.412000|8.412000	0.90232|0.90232	2.318000|2.318000	0.78349|0.78349	0.650000|0.650000	0.86243|0.86243	TTC|TCT	FAM96A	-	NULL		0.313	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM96A	HGNC	protein_coding	OTTHUMT00000256520.1	G	NM_032231		64367720	-1	no_errors	ENST00000300030	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM9C	171484	genome.wustl.edu	37	X	13061280	13061280	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:13061280C>T	ENST00000333995.3	-	3	279	c.149G>A	c.(148-150)aGa>aAa	p.R50K	FAM9C_ENST00000380625.3_Missense_Mutation_p.R50K|FAM9C_ENST00000542843.1_Missense_Mutation_p.R50K			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	50						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						AAAAGATCCTCTTTCCCCATG	0.413																																																	0													221.0	168.0	186.0					X																	13061280		2203	4300	6503	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.149G>A	X.37:g.13061280C>T	ENSP00000334430:p.Arg50Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.R50K	ENST00000333995.3	37	c.149	CCDS35203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.000|7.000	0.554743|0.554743	0.13436|0.13436	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000438997|ENST00000542843;ENST00000380625;ENST00000333995	.|T;T;T	.|0.20881	.|2.04;2.04;2.04	0.118|0.118	0.118|0.118	0.14667|0.14667	.|.	.|.	.|.	.|.	.|.	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P	.|0.38711	.|0.643	.|B	.|0.41691	.|0.364	T|T	0.14755|0.14755	-1.0461|-1.0461	4|8	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|50	.|Q8IZT9	.|FAM9C_HUMAN	K|K	10|50	.|ENSP00000439185:R50K;ENSP00000369999:R50K;ENSP00000334430:R50K	.|ENSP00000334430:R50K	E|R	-|-	1|2	0|0	FAM9C|FAM9C	12971201|12971201	0.003000|0.003000	0.15002|0.15002	0.006000|0.006000	0.13384|0.13384	0.006000|0.006000	0.05464|0.05464	-0.055000|-0.055000	0.11807|0.11807	0.179000|0.179000	0.19938|0.19938	0.181000|0.181000	0.17075|0.17075	GAG|AGA	FAM9C	-	NULL		0.413	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FAM9C	HGNC	protein_coding	OTTHUMT00000316476.1	C	NM_174901		13061280	-1	no_errors	ENST00000333995	ensembl	human	known	70_37	missense	SNP	0.006	T
FARP1	10160	genome.wustl.edu	37	13	99083327	99083327	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:99083327G>A	ENST00000319562.6	+	18	2201	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	FARP1_ENST00000595437.1_Missense_Mutation_p.E646K|FARP1_ENST00000376586.2_Missense_Mutation_p.E646K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	646	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAAGCACAGCGAGGCCTTGGA	0.577																																																	0													48.0	53.0	51.0					13																	99083327		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1936G>A	13.37:g.99083327G>A	ENSP00000322926:p.Glu646Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E646K	ENST00000319562.6	37	c.1936	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476976	0.84640	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.67865	-0.29;-0.29	5.42	5.42	0.78866	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.82517	2.595	0.80722	D	1	P;D	0.56287	0.616;0.975	B;P	0.56916	0.136;0.809	D	0.83673	0.0167	10	0.66056	D	0.02	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	646;646	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	646	ENSP00000365771:E646K;ENSP00000322926:E646K	ENSP00000322926:E646K	E	+	1	0	FARP1	97881328	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	9.137000	0.94496	2.693000	0.91896	0.650000	0.86243	GAG	FARP1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		99083327	+1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	1.000	A
FARP1	10160	genome.wustl.edu	37	13	99101831	99101831	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:99101831C>T	ENST00000319562.6	+	0	4663				FARP1_ENST00000595437.1_3'UTR|FARP1_ENST00000376586.2_3'UTR	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACCTGAGAACCAGGAACGCAC	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.*1260C>T	13.37:g.99101831C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JVI9|Q6IQ29	RNA	SNP	-	NULL	ENST00000319562.6	37	NULL	CCDS9487.1	13																																																																																			FARP1	-	-		0.542	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	C	NM_005766		99101831	+1	no_errors	ENST00000597596	ensembl	human	known	70_37	rna	SNP	0.005	T
FARP2	9855	genome.wustl.edu	37	2	242407698	242407698	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:242407698G>A	ENST00000264042.3	+	18	2207	c.2037G>A	c.(2035-2037)ctG>ctA	p.L679L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	679	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CGTTCCTGCTGAAGCCCATCC	0.567																																																	0													92.0	78.0	83.0					2																	242407698		2203	4300	6503	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2037G>A	2.37:g.242407698G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L679	ENST00000264042.3	37	c.2037	CCDS33424.1	2																																																																																			FARP2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242407698	+1	no_errors	ENST00000264042	ensembl	human	known	70_37	silent	SNP	0.999	A
FASN	2194	genome.wustl.edu	37	17	80042681	80042681	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:80042681C>G	ENST00000306749.2	-	26	4776	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1520					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCACCCTCCTCCAGCAGGAAG	0.682																																					Colon(59;314 1043 11189 28578 32273)												0													16.0	16.0	16.0					17																	80042681		1997	3958	5955	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4558G>C	17.37:g.80042681C>G	ENSP00000304592:p.Glu1520Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E1520Q	ENST00000306749.2	37	c.4558	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	2.234	-0.375352	0.05034	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.26660	1.72	3.87	2.8	0.32819	.	0.932311	0.09159	N	0.840483	T	0.17408	0.0418	L	0.34521	1.04	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.15378	-1.0439	10	0.29301	T	0.29	-8.8675	4.4876	0.11797	0.0:0.3867:0.4163:0.197	.	1520	P49327	FAS_HUMAN	Q	1520;485	ENSP00000304592:E1520Q	ENSP00000304592:E1520Q	E	-	1	0	FASN	77635970	0.664000	0.27457	0.086000	0.20670	0.281000	0.26958	1.108000	0.31123	1.964000	0.57103	0.313000	0.20887	GAG	FASN	-	NULL		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80042681	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	0.011	G
FAT2	2196	genome.wustl.edu	37	5	150932740	150932740	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150932740G>C	ENST00000261800.5	-	5	4166	c.4154C>G	c.(4153-4155)tCa>tGa	p.S1385*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1385	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1385*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCACCTGAGATGTTGAA	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											83.0	80.0	81.0					5																	150932740		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4154C>G	5.37:g.150932740G>C	ENSP00000261800:p.Ser1385*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1385*	ENST00000261800.5	37	c.4154	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.707171	0.99454	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.23	5.23	0.72850	.	0.442716	0.19308	N	0.117466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.8145	0.88627	0.0:0.0:1.0:0.0	.	.	.	.	X	1385	.	ENSP00000261800:S1385X	S	-	2	0	FAT2	150912933	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.794000	0.55492	2.453000	0.82957	0.561000	0.74099	TCA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150932740	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150942963	150942963	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150942963G>C	ENST00000261800.5	-	2	3509	c.3497C>G	c.(3496-3498)tCc>tGc	p.S1166C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1166	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGGAGCTGGAGTCTGGGTC	0.537																																																	0													112.0	108.0	109.0					5																	150942963		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3497C>G	5.37:g.150942963G>C	ENSP00000261800:p.Ser1166Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1166C	ENST00000261800.5	37	c.3497	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109324	0.56398	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.03	4.14	0.48551	Cadherin (4);Cadherin-like (1);	0.428133	0.22375	N	0.060888	T	0.74092	0.3671	M	0.92268	3.29	0.19945	N	0.999949	D	0.58620	0.983	P	0.56788	0.806	T	0.71101	-0.4690	10	0.66056	D	0.02	.	14.1656	0.65475	0.074:0.0:0.926:0.0	.	1166	Q9NYQ8	FAT2_HUMAN	C	1166	ENSP00000261800:S1166C	ENSP00000261800:S1166C	S	-	2	0	FAT2	150923156	1.000000	0.71417	0.989000	0.46669	0.808000	0.45660	2.518000	0.45537	1.227000	0.43598	0.561000	0.74099	TCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150942963	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.395	C
FBN1	2200	genome.wustl.edu	37	15	48779635	48779635	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:48779635C>T	ENST00000316623.5	-	28	3793		c.e28-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCAATATCTGCAAAATGG	0.537																																																	0													129.0	127.0	127.0					15																	48779635		2198	4296	6494	SO:0001630	splice_region_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3338-1G>A	15.37:g.48779635C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	-	e27-1	ENST00000316623.5	37	c.3338-1	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732288	0.69189	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46566927	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.123000	0.77176	2.639000	0.89480	0.655000	0.94253	.	FBN1	-	-		0.537	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C		Intron	48779635	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	splice_site	SNP	1.000	T
FBN3	84467	genome.wustl.edu	37	19	8197937	8197937	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:8197937C>T	ENST00000600128.1	-	14	2059	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	FBN3_ENST00000270509.2_Missense_Mutation_p.E549K|FBN3_ENST00000601739.1_Missense_Mutation_p.E549K			Q75N90	FBN3_HUMAN	fibrillin 3	549	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCATCCTCGTTGAGACAC	0.647																																																	0													61.0	39.0	47.0					19																	8197937		2201	4294	6495	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1645G>A	19.37:g.8197937C>T	ENSP00000470498:p.Glu549Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.E549K	ENST00000600128.1	37	c.1645	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	c	18.68	3.676823	0.67928	.	.	ENSG00000142449	ENST00000270509	D	0.91740	-2.9	2.61	2.61	0.31194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.89238	0.6658	N	0.20610	0.595	0.40182	D	0.977302	D	0.71674	0.998	P	0.58130	0.833	D	0.85539	0.1214	10	0.13853	T	0.58	.	13.4207	0.60996	0.0:1.0:0.0:0.0	.	549	Q75N90	FBN3_HUMAN	K	549	ENSP00000270509:E549K	ENSP00000270509:E549K	E	-	1	0	FBN3	8103937	1.000000	0.71417	0.896000	0.35187	0.343000	0.28985	5.111000	0.64628	1.159000	0.42565	0.461000	0.40582	GAG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	C	NM_032447		8197937	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXL7	23194	genome.wustl.edu	37	5	15937289	15937289	+	Missense_Mutation	SNP	C	C	G	rs537284845	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:15937289C>G	ENST00000504595.1	+	4	1951	c.1470C>G	c.(1468-1470)ttC>ttG	p.F490L	FBXL7_ENST00000329673.7_Missense_Mutation_p.F478L|FBXL7_ENST00000510662.1_Missense_Mutation_p.F443L|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	490					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCCGGCTTTCTTCTGAAGGG	0.517													C|||	4	0.000798722	0.0	0.0	5008	,	,		16207	0.004		0.0	False		,,,				2504	0.0																0													11.0	13.0	12.0					5																	15937289		2041	4197	6238	SO:0001583	missense	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1470C>G	5.37:g.15937289C>G	ENSP00000423630:p.Phe490Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.F490L	ENST00000504595.1	37	c.1470	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581349	0.65992	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12672	2.66;2.77;2.7	5.36	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.46741	1.465	0.53005	D	0.999969	D	0.69078	0.997	P	0.61132	0.884	T	0.00706	-1.1601	10	0.72032	D	0.01	.	7.7982	0.29160	0.0:0.6653:0.0:0.3347	.	490	Q9UJT9	FBXL7_HUMAN	L	490;443;478	ENSP00000423630:F490L;ENSP00000425184:F443L;ENSP00000329632:F478L	ENSP00000329632:F478L	F	+	3	2	FBXL7	15990289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.700000	0.37815	0.582000	0.29556	0.650000	0.86243	TTC	FBXL7	-	NULL		0.517	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	C	NM_012304		15937289	+1	no_errors	ENST00000504595	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXO21	23014	genome.wustl.edu	37	12	117584046	117584046	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:117584046G>A	ENST00000330622.5	-	12	1732	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	FBXO21_ENST00000427718.2_Missense_Mutation_p.S571L			O94952	FBX21_HUMAN	F-box protein 21	578					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTCAGGGTGTGAGATTTCTTG	0.478																																					GBM(168;452 2038 13535 17701 43680)												0													128.0	118.0	122.0					12																	117584046		2203	4300	6503	SO:0001583	missense	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1733C>T	12.37:g.117584046G>A	ENSP00000328187:p.Ser578Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.S578L	ENST00000330622.5	37	c.1733	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935953	0.52972	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.43688	0.95;0.94	5.39	5.39	0.77823	Hemimethylated DNA-binding domain (2);	0.230075	0.39475	N	0.001344	T	0.28001	0.0690	N	0.24115	0.695	0.35062	D	0.761682	P;B;B	0.36392	0.551;0.224;0.257	B;B;B	0.34652	0.187;0.171;0.074	T	0.29610	-1.0006	10	0.12103	T	0.63	-25.8567	14.7322	0.69391	0.0:0.1443:0.8557:0.0	.	427;578;571	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	L	571;487;427;578	ENSP00000414468:S571L;ENSP00000328187:S578L	ENSP00000257563:S487L	S	-	2	0	FBXO21	116068429	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	4.529000	0.60588	2.521000	0.84997	0.561000	0.74099	TCA	FBXO21	-	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	G	NM_033624		117584046	-1	no_errors	ENST00000330622	ensembl	human	known	70_37	missense	SNP	0.987	A
FBXO39	162517	genome.wustl.edu	37	17	6683544	6683544	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6683544G>C	ENST00000321535.4	+	2	487	c.357G>C	c.(355-357)ctG>ctC	p.L119L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGTCTTGTCTGAGTAAGAGCA	0.502																																																	0													84.0	85.0	85.0					17																	6683544		2203	4300	6503	SO:0001819	synonymous_variant	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.357G>C	17.37:g.6683544G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L119	ENST00000321535.4	37	c.357	CCDS11082.1	17																																																																																			FBXO39	-	NULL		0.502	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	G	NM_153230		6683544	+1	no_errors	ENST00000321535	ensembl	human	known	70_37	silent	SNP	1.000	C
FBXO9	26268	genome.wustl.edu	37	6	52958272	52958272	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:52958272G>A	ENST00000244426.6	+	9	1074	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FBXO9_ENST00000370939.3_Missense_Mutation_p.R257K|RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000323557.7_Missense_Mutation_p.R291K	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	301					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AGGTACATAAGATTCTTTCCT	0.388																																																	0													105.0	98.0	100.0					6																	52958272		1876	4106	5982	SO:0001583	missense	26268			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.902G>A	6.37:g.52958272G>A	ENSP00000244426:p.Arg301Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R301K	ENST00000244426.6	37	c.902	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.448424	0.96205	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	D;D;D	0.89050	-2.42;-2.44;-2.46	5.62	5.62	0.85841	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;P	0.87578	0.998;0.925;0.904	D	0.95173	0.8292	10	0.72032	D	0.01	-17.399	19.6602	0.95864	0.0:0.0:1.0:0.0	.	291;408;301	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	K	257;291;301	ENSP00000359977:R257K;ENSP00000326968:R291K;ENSP00000244426:R301K	ENSP00000244426:R301K	R	+	2	0	FBXO9	53066231	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	9.476000	0.97823	2.651000	0.90000	0.563000	0.77884	AGA	FBXO9	-	superfamily_F-box_dom_cyclin-like		0.388	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	G			52958272	+1	no_errors	ENST00000244426	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXW4	6468	genome.wustl.edu	37	10	103433427	103433427	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:103433427C>G	ENST00000331272.7	-	3	978	c.360G>C	c.(358-360)caG>caC	p.Q120H		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	120					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCAGGGCATCTGACTGAAAT	0.423																																																	0													58.0	59.0	59.0					10																	103433427		2203	4300	6503	SO:0001583	missense	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.360G>C	10.37:g.103433427C>G	ENSP00000359149:p.Gln120His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVS1|Q96IM6	Splice_Site	SNP	-	e3-1	ENST00000331272.7	37	c.361-1	CCDS31271.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.768515|1.768515	0.31320|0.31320	.|.	.|.	ENSG00000107829|ENSG00000107829	ENST00000331272;ENST00000457105;ENST00000431477|ENST00000389046	.|.	.|.	.|.	5.23|5.23	3.25|3.25	0.37280|0.37280	.|.	.|0.205916	.|0.41500	.|D	.|0.000869	.|T	.|0.20210	.|0.0486	N|N	0.19112|0.19112	0.55|0.55	0.30869|0.30869	N|N	0.732681|0.732681	.|P	.|0.46277	.|0.875	.|B	.|0.41510	.|0.359	.|T	.|0.08006	.|-1.0743	.|8	.|.	.|.	.|.	.|.	5.5723|5.5723	0.17204|0.17204	0.0:0.6246:0.1468:0.2286|0.0:0.6246:0.1468:0.2286	.|.	.|120	.|P57775	.|FBXW4_HUMAN	.|H	-1|120	.|.	.|.	.|Q	-|-	.|3	.|2	FBXW4|FBXW4	103423417|103423417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.802000|0.802000	0.45316|0.45316	2.139000|2.139000	0.42149|0.42149	1.345000|1.345000	0.45676|0.45676	0.484000|0.484000	0.47621|0.47621	.|CAG	FBXW4	-	-		0.423	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	C	NM_022039		103433427	-1	no_errors	ENST00000331272	ensembl	human	known	70_37	splice_site	SNP	1.000	G
FBXW7	55294	genome.wustl.edu	37	4	153244184	153244184	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:153244184C>T	ENST00000281708.4	-	12	3202	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000296555.5_Missense_Mutation_p.R540Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R482Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R658Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R578Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R658Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658Q(2)|p.R419Q(1)|p.R578Q(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GACTAGGTTTCGAATAAATTC	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)											166.0	164.0	165.0					4																	153244184		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1973G>A	4.37:g.153244184C>T	ENSP00000281708:p.Arg658Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R658Q	ENST00000281708.4	37	c.1973	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479047	0.63849	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.993;0.996;0.996	T	0.16188	-1.0411	10	0.40728	T	0.16	-10.7715	19.7667	0.96346	0.0:1.0:0.0:0.0	.	482;658;540;578	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	658;540;578;482	ENSP00000281708:R658Q;ENSP00000296555:R540Q;ENSP00000263981:R578Q;ENSP00000377528:R482Q	ENSP00000263981:R578Q	R	-	2	0	FBXW7	153463634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.681000	0.91329	0.655000	0.94253	CGA	FBXW7	-	smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153244184	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXW7	55294	genome.wustl.edu	37	4	153258986	153258986	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:153258986G>C	ENST00000281708.4	-	5	2058	c.829C>G	c.(829-831)Caa>Gaa	p.Q277E	FBXW7_ENST00000296555.5_Missense_Mutation_p.Q159E|FBXW7_ENST00000393956.3_Missense_Mutation_p.Q101E|FBXW7_ENST00000603841.1_Missense_Mutation_p.Q277E|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Missense_Mutation_p.Q197E|FBXW7_ENST00000603548.1_Missense_Mutation_p.Q277E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	277					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AAGTCTCGTTGAAACTGGGGT	0.363			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											180.0	175.0	177.0					4																	153258986		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.829C>G	4.37:g.153258986G>C	ENSP00000281708:p.Gln277Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q277E	ENST00000281708.4	37	c.829	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807571	0.90623	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.63	5.63	0.86233	F-box domain, Skp2-like (1);	0.108406	0.64402	D	0.000004	T	0.69984	0.3172	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;P;P	0.61397	0.776;0.837;0.888;0.888	T	0.73895	-0.3838	10	0.87932	D	0	-16.9009	19.6704	0.95910	0.0:0.0:1.0:0.0	.	101;277;159;197	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	E	277;159;197;101	ENSP00000281708:Q277E;ENSP00000296555:Q159E;ENSP00000263981:Q197E;ENSP00000377528:Q101E	ENSP00000263981:Q197E	Q	-	1	0	FBXW7	153478436	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.793000	0.99091	2.641000	0.89580	0.650000	0.86243	CAA	FBXW7	-	superfamily_F-box_dom_cyclin-like		0.363	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153258986	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C
FCGR1B	2210	genome.wustl.edu	37	1	120927232	120927232	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:120927232C>T	ENST00000369384.4	-	5	790	c.748G>A	c.(748-750)Gac>Aac	p.D250N	FCGR1B_ENST00000472543.1_5'Flank|FCGR1B_ENST00000369383.4_Missense_Mutation_p.D158N|RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	250					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 peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	AAATGTCTGTCTTCTTGAAGG	0.448																																																	0													7.0	7.0	7.0					1																	120927232		2063	4077	6140	SO:0001583	missense	2210				CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.748G>A	1.37:g.120927232C>T	ENSP00000358391:p.Asp250Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7KZ13|Q92638	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D250N	ENST00000369384.4	37	c.748	CCDS30821.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.10|11.10	1.540610|1.540610	0.27563|0.27563	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.06528|.	4.55;3.29|.	1.96|1.96	-3.93|-3.93	0.04143|0.04143	.|.	2.578810|.	0.02108|.	N|.	0.054567|.	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.26775|.	0.159;0.118|.	B;B|.	0.17098|.	0.011;0.017|.	T|T	0.36456|0.36456	-0.9747|-0.9747	10|5	0.59425|.	D|.	0.04|.	.|.	4.5219|4.5219	0.11962|0.11962	0.3967:0.2382:0.3651:0.0|0.3967:0.2382:0.3651:0.0	.|.	158;250|.	Q92637-3;Q92637|.	.;FCGRB_HUMAN|.	N|K	250;158|234	ENSP00000358391:D250N;ENSP00000358390:D158N|.	ENSP00000358390:D158N|.	D|R	-|-	1|2	0|0	FCGR1B|FCGR1B	120728755|120728755	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.472000|0.472000	0.32918|0.32918	-0.019000|-0.019000	0.12546|0.12546	-1.071000|-1.071000	0.03145|0.03145	0.184000|0.184000	0.17185|0.17185	GAC|AGA	FCGR1B	-	NULL		0.448	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1B	HGNC	protein_coding	OTTHUMT00000098241.1	C			120927232	-1	no_errors	ENST00000369384	ensembl	human	known	70_37	missense	SNP	0.000	T
FDPS	2224	genome.wustl.edu	37	1	155288527	155288527	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155288527C>T	ENST00000356657.6	+	7	918	c.756C>T	c.(754-756)gtC>gtT	p.V252V	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Silent_p.V186V|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Silent_p.V252V	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	252					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGGATCTTGTCAGATTCACTG	0.562																																																	0													69.0	68.0	68.0					1																	155288527		2203	4300	6503	SO:0001819	synonymous_variant	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.756C>T	1.37:g.155288527C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.V252	ENST00000356657.6	37	c.756	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.562	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155288527	+1	no_errors	ENST00000356657	ensembl	human	known	70_37	silent	SNP	0.805	T
FDPS	2224	genome.wustl.edu	37	1	155290320	155290320	+	Missense_Mutation	SNP	C	C	G	rs375219975		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155290320C>G	ENST00000356657.6	+	11	1342	c.1180C>G	c.(1180-1182)Ctc>Gtc	p.L394V	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.L328V|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Missense_Mutation_p.L394V	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	394					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CATTATGGCTCTCATTGAACA	0.547																																																	0													61.0	57.0	58.0					1																	155290320		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1180C>G	1.37:g.155290320C>G	ENSP00000349078:p.Leu394Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L394V	ENST00000356657.6	37	c.1180	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731158	0.15507	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63913	-0.07;-0.07;-0.07	3.24	3.24	0.37175	Terpenoid synthase (2);	0.000000	0.33199	N	0.005165	T	0.55016	0.1894	M	0.89904	3.07	0.47905	D	0.999547	B	0.33477	0.413	B	0.36885	0.235	T	0.60047	-0.7339	10	0.17832	T	0.49	-5.9895	12.356	0.55176	0.0:1.0:0.0:0.0	.	394	P14324	FPPS_HUMAN	V	328;394;394	ENSP00000391755:L328V;ENSP00000357340:L394V;ENSP00000349078:L394V	ENSP00000349078:L394V	L	+	1	0	FDPS	153556944	1.000000	0.71417	0.037000	0.18230	0.012000	0.07955	6.716000	0.74702	2.111000	0.64477	0.462000	0.41574	CTC	FDPS	-	superfamily_Terpenoid_synth		0.547	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155290320	+1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	0.992	G
FCRLA	84824	genome.wustl.edu	37	1	161680322	161680322	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:161680322C>T	ENST00000470841.1	+	0	244				FCRLA_ENST00000367953.3_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540926.1_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367959.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000236938.6_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A						cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCTCCCTCTTCTCCAAACCAC	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000470841.1:c.*241C>T	1.37:g.161680322C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	RNA	SNP	-	NULL	ENST00000470841.1	37	NULL		1																																																																																			FCRLA	-	-		0.498	FCRLA-009	KNOWN	basic	processed_transcript	FCRLA	HGNC	protein_coding	OTTHUMT00000083582.1	C	NM_032738		161680322	+1	no_errors	ENST00000470841	ensembl	human	known	70_37	rna	SNP	0.017	T
FER	2241	genome.wustl.edu	37	5	108521904	108521904	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:108521904G>C	ENST00000281092.4	+	19	2591	c.2207G>C	c.(2206-2208)aGa>aCa	p.R736T	FER_ENST00000438717.2_Missense_Mutation_p.R561T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTCCAGGGAGATACAGTTCA	0.488																																					Colon(146;1051 1799 9836 27344 47401)												0													329.0	310.0	316.0					5																	108521904		2202	4300	6502	SO:0001583	missense	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2207G>C	5.37:g.108521904G>C	ENSP00000281092:p.Arg736Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.R736T	ENST00000281092.4	37	c.2207	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578314	0.86645	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.82526	-1.62;-1.62	6.02	6.02	0.97574	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.040379	0.85682	D	0.000000	D	0.88112	0.6349	L	0.37750	1.13	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.86811	0.1998	10	0.46703	T	0.11	-29.2912	20.5407	0.99260	0.0:0.0:1.0:0.0	.	736	P16591	FER_HUMAN	T	736;561	ENSP00000281092:R736T;ENSP00000394297:R561T	ENSP00000281092:R736T	R	+	2	0	FER	108549803	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.853000	0.86934	2.865000	0.98341	0.655000	0.94253	AGA	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	G	NM_005246		108521904	+1	no_errors	ENST00000281092	ensembl	human	known	70_37	missense	SNP	1.000	C
FER1L4	80307	genome.wustl.edu	37	20	34191046	34191046	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:34191046C>T	ENST00000430275.2	-	0	776							A9Z1Z3	FR1L4_HUMAN	fer-1-like family member 4, pseudogene (functional)							integral component of membrane (GO:0016021)											TCTGGGCTTCCAGCACAGTGA	0.592																																																	0																																												80307			AL121586		20q11.23	2014-09-11	2014-06-27		ENSG00000088340	ENSG00000088340		"""-"""	15801	pseudogene	pseudogene			"""fer-1-like 4 (C. elegans)"", ""fer-1-like 4 (C. elegans), pseudogene (functional)"""	C20orf124		24063685, 24961353	Standard	XR_425236		Approved	bA563A22B.1, dJ309K20.1	uc002xcx.3	A9Z1Z3	OTTHUMG00000032354		20.37:g.34191046C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9GZQ9|Q9H646|Q9H8L7	RNA	SNP	-	NULL	ENST00000430275.2	37	NULL		20																																																																																			FER1L4	-	-		0.592	FER1L4-016	KNOWN	basic	processed_transcript	FER1L4	HGNC	pseudogene	OTTHUMT00000443297.1	C	NR_024377		34191046	-1	no_errors	ENST00000430275	ensembl	human	known	70_37	rna	SNP	0.107	T
FER1L6	654463	genome.wustl.edu	37	8	124968231	124968231	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:124968231G>A	ENST00000522917.1	+	2	199		c.e2-1		FER1L6_ENST00000399018.1_5'UTR	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCTTTTCAGAAAGGGGATG	0.438																																																	0													33.0	34.0	34.0					8																	124968231		1837	4086	5923	SO:0001630	splice_region_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.-7-1G>A	8.37:g.124968231G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e1-1	ENST00000522917.1	37	c.1-1	CCDS43767.1	8																																																																																			FER1L6	-	-		0.438	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112	Intron	124968231	+1	no_errors	ENST00000522917	ensembl	human	known	70_37	splice_site	SNP	1.000	A
FERMT2	10979	genome.wustl.edu	37	14	53324870	53324870	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:53324870C>T	ENST00000395631.2	-	0	2484				FERMT2_ENST00000341590.3_3'UTR|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_3'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GTTTTCAATTCATGGCCCTAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.*225G>A	14.37:g.53324870C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5TJY2|Q14840|Q86TY7	RNA	SNP	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-		0.338	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	C	NM_006832		53324870	-1	no_errors	ENST00000557255	ensembl	human	known	70_37	rna	SNP	0.000	T
FERMT2	10979	genome.wustl.edu	37	14	53327241	53327241	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:53327241G>C	ENST00000395631.2	-	13	1819				FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TGGGAGAACTGAGACAAAAGA	0.373																																																	0																																										SO:0001627	intron_variant	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1603-58C>G	14.37:g.53327241G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5TJY2|Q14840|Q86TY7	RNA	SNP	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-		0.373	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	G	NM_006832		53327241	-1	no_errors	ENST00000557255	ensembl	human	known	70_37	rna	SNP	0.012	C
FEZF2	55079	genome.wustl.edu	37	3	62358300	62358300	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:62358300C>G	ENST00000283268.3	-	2	538	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	FEZF2_ENST00000486811.1_Missense_Mutation_p.E82Q|FEZF2_ENST00000475839.1_Missense_Mutation_p.E82Q	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	82					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GACGGCACCTCGTAGCCTAGG	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0													30.0	34.0	33.0					3																	62358300		2203	4300	6503	SO:0001583	missense	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.244G>C	3.37:g.62358300C>G	ENSP00000283268:p.Glu82Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E82Q	ENST00000283268.3	37	c.244	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102690	0.56183	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.09538	2.97;2.97;2.97	5.1	5.1	0.69264	.	0.099870	0.64402	D	0.000001	T	0.11665	0.0284	L	0.50333	1.59	0.53688	D	0.999975	P	0.47034	0.889	B	0.34038	0.174	T	0.05053	-1.0909	10	0.72032	D	0.01	-15.3945	18.119	0.89565	0.0:1.0:0.0:0.0	.	82	Q8TBJ5	FEZF2_HUMAN	Q	82	ENSP00000418589:E82Q;ENSP00000283268:E82Q;ENSP00000418804:E82Q	ENSP00000283268:E82Q	E	-	1	0	FEZF2	62333340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.399000	0.81585	0.555000	0.69702	GAG	FEZF2	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	C	NM_018008		62358300	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	missense	SNP	1.000	G
FGG	2266	genome.wustl.edu	37	4	155531224	155531224	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155531224C>T	ENST00000336098.3	-	5	565	c.527G>A	c.(526-528)gGg>gAg	p.G176E	FGG_ENST00000407946.1_Missense_Mutation_p.G176E|FGG_ENST00000404648.3_Missense_Mutation_p.G176E|FGG_ENST00000405164.1_Missense_Mutation_p.G176E	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	176	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTACCTTTCCCAGTGATATC	0.378																																																	0													182.0	165.0	171.0					4																	155531224		2203	4300	6503	SO:0001583	missense	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.527G>A	4.37:g.155531224C>T	ENSP00000336829:p.Gly176Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G176E	ENST00000336098.3	37	c.527	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295037	0.81025	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	D;T;D;T;T;T	0.97161	-4.27;0.33;-4.27;0.32;2.08;2.08	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;1.0;1.0;1.0	D	0.99387	1.0924	10	0.72032	D	0.01	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	176;176;176;176	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	E	176;176;176;176;73;73	ENSP00000384860:G176E;ENSP00000384101:G176E;ENSP00000336829:G176E;ENSP00000384552:G176E;ENSP00000407562:G73E;ENSP00000377429:G73E	ENSP00000336829:G176E	G	-	2	0	FGG	155750674	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	5.453000	0.66645	2.724000	0.93272	0.655000	0.94253	GGG	FGG	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.378	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	C	NM_021870		155531224	-1	no_errors	ENST00000336098	ensembl	human	known	70_37	missense	SNP	1.000	T
FGR	2268	genome.wustl.edu	37	1	27941981	27941981	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:27941981C>T	ENST00000374005.3	-	9	1270	c.982G>A	c.(982-984)Gag>Aag	p.E328K	FGR_ENST00000399173.1_Missense_Mutation_p.E328K|FGR_ENST00000545953.1_Missense_Mutation_p.E262K|FGR_ENST00000374004.1_Missense_Mutation_p.E328K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TAGATGGGCTCCTCCGACACC	0.632																																																	0													84.0	78.0	80.0					1																	27941981		2203	4300	6503	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.982G>A	1.37:g.27941981C>T	ENSP00000363117:p.Glu328Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E328K	ENST00000374005.3	37	c.982	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.081245	0.94050	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000022	T	0.13884	0.0336	N	0.25485	0.75	0.51482	D	0.999929	P	0.44816	0.844	P	0.46975	0.533	T	0.01520	-1.1334	10	0.87932	D	0	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	328	P09769	FGR_HUMAN	K	328;262;328;328;328	ENSP00000363117:E328K;ENSP00000445302:E262K;ENSP00000382126:E328K;ENSP00000363116:E328K;ENSP00000363115:E328K	ENSP00000363115:E328K	E	-	1	0	FGR	27814568	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.715000	0.84713	2.557000	0.86248	0.491000	0.48974	GAG	FGR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	C	NM_005248		27941981	-1	no_errors	ENST00000374003	ensembl	human	known	70_37	missense	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152287172	152287172	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152287172C>G	ENST00000368799.1	-	3	225	c.190G>C	c.(190-192)Gac>Cac	p.D64H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	64	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTGTGGTCTATATCCAAG	0.403									Ichthyosis																																								0													100.0	101.0	101.0					1																	152287172		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.190G>C	1.37:g.152287172C>G	ENSP00000357789:p.Asp64His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D64H	ENST00000368799.1	37	c.190	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.140	0.024366	0.08054	.	.	ENSG00000143631	ENST00000368799	T	0.18338	2.22	5.09	4.18	0.49190	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.38054	0.1026	H	0.95004	3.61	0.26931	N	0.966461	D	0.89917	1.0	D	0.76575	0.988	T	0.42965	-0.9420	9	0.72032	D	0.01	-19.7067	9.3182	0.37948	0.0:0.9036:0.0:0.0964	.	64	P20930	FILA_HUMAN	H	64	ENSP00000357789:D64H	ENSP00000357789:D64H	D	-	1	0	FLG	150553796	0.985000	0.35326	0.985000	0.45067	0.104000	0.19210	1.987000	0.40687	1.387000	0.46486	-0.225000	0.12378	GAC	FLG	-	pfscan_EF_HAND_2		0.403	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152287172	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.979	G
ZNF473	25888	genome.wustl.edu	37	19	50554229	50554229	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50554229G>A	ENST00000595661.1	+	0	4828				CTD-2126E3.1_ENST00000527209.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGGAGCACACGAAGTCGTGGC	0.592																																																	0																																										SO:0001628	intergenic_variant	400710			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7			19.37:g.50554229G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	RNA	SNP	-	NULL	ENST00000595661.1	37	NULL	CCDS33077.1	19																																																																																			CTD-2126E3.1	-	-		0.592	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLJ26850	Clone_based_vega_gene	protein_coding	OTTHUMT00000464833.1	G	XM_046390		50554229	+1	no_errors	ENST00000527209	ensembl	human	known	70_37	rna	SNP	0.000	A
AC007364.1	0	genome.wustl.edu	37	2	150714717	150714717	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:150714717C>T	ENST00000295052.3	-	0	549																											TAATTTTCCTCATCTTTAGAA	0.438																																																	0																																												150596																															2.37:g.150714717C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000295052.3	37	NULL		2																																																																																			AC007364.1	-	-		0.438	AC007364.1-001	KNOWN	basic	lincRNA	FLJ32955	Clone_based_vega_gene	lincRNA	OTTHUMT00000332309.2	C			150714717	-1	no_errors	ENST00000295052	ensembl	human	known	70_37	rna	SNP	0.075	T
PIEZO1	9780	genome.wustl.edu	37	16	88809798	88809798	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:88809798C>T	ENST00000301015.9	-	3	407				RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.8_ENST00000333666.1_RNA|RP5-1142A6.8_ENST00000567588.1_RNA|RP5-1142A6.7_ENST00000566114.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TCCGGGCCCTCACCCTGGGGC	0.642																																																	0																																										SO:0001627	intron_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.161-968G>A	16.37:g.88809798C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	C	6.002	0.368786	0.11352	.	.	ENSG00000182376	ENST00000333666	.	.	.	1.36	0.327	0.15913	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39375	-0.9617	5	0.87932	D	0	.	3.0763	0.06247	0.0:0.6819:0.0:0.3181	.	.	.	.	Y	144	.	ENSP00000327620:H144Y	H	+	1	0	AC138028.1	87337299	0.000000	0.05858	0.127000	0.21898	0.051000	0.14879	-0.299000	0.08254	0.739000	0.32628	0.313000	0.20887	CAC	RP5-1142A6.8	-	-		0.642	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	FLJ40448	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	C	NM_014745		88809798	+1	no_errors	ENST00000333666	ensembl	human	known	70_37	rna	SNP	0.042	T
FLNB	2317	genome.wustl.edu	37	3	58109198	58109198	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:58109198G>A	ENST00000295956.4	+	21	3670	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	FLNB_ENST00000358537.3_Missense_Mutation_p.E1169K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1169K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1169K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1000K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1169K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1169K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1000K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1169	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGCCTGGAAGCTGTCTC	0.627																																																	0													54.0	58.0	56.0					3																	58109198		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3505G>A	3.37:g.58109198G>A	ENSP00000295956:p.Glu1169Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1169K	ENST00000295956.4	37	c.3505	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294063	0.81025	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.95	5.95	0.96441	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.089102	0.85682	D	0.000000	D	0.89870	0.6840	L	0.47016	1.485	0.80722	D	1	P;D;P;B;P;P	0.65815	0.768;0.995;0.729;0.096;0.661;0.881	B;D;P;B;P;P	0.63113	0.341;0.911;0.576;0.174;0.472;0.626	D	0.88921	0.3366	10	0.51188	T	0.08	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	1169;1169;1000;1000;1169;1169	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1169;1169;1169;1169;1169;1169;1000;1000	ENSP00000295956:E1169K;ENSP00000420213:E1169K;ENSP00000351339:E1169K;ENSP00000415599:E1169K;ENSP00000232447:E1169K;ENSP00000349819:E1169K;ENSP00000418510:E1000K;ENSP00000414532:E1000K	ENSP00000295956:E1169K	E	+	1	0	FLNB	58084238	1.000000	0.71417	0.995000	0.50966	0.177000	0.22998	7.928000	0.87587	2.826000	0.97356	0.563000	0.77884	GAA	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58109198	+1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	A
FLT1	2321	genome.wustl.edu	37	13	28979985	28979985	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:28979985C>T	ENST00000282397.4	-	11	1734	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	FLT1_ENST00000539099.1_Missense_Mutation_p.D495N|FLT1_ENST00000541932.1_Missense_Mutation_p.D495N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	495	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTGCTGTCAGCATCCAGG	0.378																																																	0													182.0	175.0	178.0					13																	28979985		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1483G>A	13.37:g.28979985C>T	ENSP00000282397:p.Asp495Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.D495N	ENST00000282397.4	37	c.1483	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356055	0.24598	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.74947	-0.89;-0.3;-0.25	5.73	0.00917	0.14078	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.093960	0.06755	N	0.780743	T	0.55386	0.1917	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.002	T	0.31916	-0.9926	10	0.10636	T	0.68	.	6.0522	0.19792	0.0:0.45:0.1247:0.4253	.	495;495;495;495	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	N	495	ENSP00000282397:D495N;ENSP00000437631:D495N;ENSP00000442630:D495N	ENSP00000282397:D495N	D	-	1	0	FLT1	27877985	0.009000	0.17119	0.032000	0.17829	0.981000	0.71138	0.418000	0.21230	-0.019000	0.14055	0.655000	0.94253	GAC	FLT1	-	smart_Ig_sub,pfscan_Ig-like		0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			28979985	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.011	T
FMN2	56776	genome.wustl.edu	37	1	240256666	240256666	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:240256666C>G	ENST00000319653.9	+	1	1487	c.1257C>G	c.(1255-1257)atC>atG	p.I419M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	419					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGCTACATCAAGACCACCA	0.682																																																	0													48.0	56.0	53.0					1																	240256666		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1257C>G	1.37:g.240256666C>G	ENSP00000318884:p.Ile419Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.I419M	ENST00000319653.9	37	c.1257	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512471	0.27123	.	.	ENSG00000155816	ENST00000319653	D	0.84070	-1.8	4.15	4.15	0.48705	.	0.089017	0.46758	D	0.000262	T	0.80486	0.4632	L	0.32530	0.975	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	T	0.82255	-0.0548	10	0.87932	D	0	.	10.307	0.43687	0.0:0.9086:0.0:0.0914	.	419	Q9NZ56	FMN2_HUMAN	M	419	ENSP00000318884:I419M	ENSP00000318884:I419M	I	+	3	3	FMN2	238323289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.987000	0.40687	2.130000	0.65690	0.462000	0.41574	ATC	FMN2	-	NULL		0.682	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240256666	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	1.000	G
FNBP4	23360	genome.wustl.edu	37	11	47765561	47765561	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47765561G>C	ENST00000263773.5	-	8	1412	c.1400C>G	c.(1399-1401)tCt>tGt	p.S467C	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	467						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTACTGGTAGATTCTGGACT	0.403																																																	0													150.0	134.0	139.0					11																	47765561		1888	4113	6001	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1400C>G	11.37:g.47765561G>C	ENSP00000263773:p.Ser467Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S467C	ENST00000263773.5	37	c.1400	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825974	0.90955	.	.	ENSG00000109920	ENST00000263773	T	0.44881	0.91	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48969	-0.8987	10	0.35671	T	0.21	-14.1064	20.1338	0.98010	0.0:0.0:1.0:0.0	.	467	Q8N3X1	FNBP4_HUMAN	C	467	ENSP00000263773:S467C	ENSP00000263773:S467C	S	-	2	0	FNBP4	47722137	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.864000	0.92294	2.770000	0.95276	0.655000	0.94253	TCT	FNBP4	-	NULL		0.403	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	G			47765561	-1	no_errors	ENST00000263773	ensembl	human	known	70_37	missense	SNP	1.000	C
FOXC1	2296	genome.wustl.edu	37	6	1611076	1611076	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:1611076C>G	ENST00000380874.2	+	1	396	c.396C>G	c.(394-396)ctC>ctG	p.L132L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	132					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|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 regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACCTCTCGCTCAACGAGTGCT	0.597																																					Pancreas(133;719 1821 3197 26645 35015)												0													87.0	97.0	94.0					6																	1611076		2203	4300	6503	SO:0001819	synonymous_variant	2296			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.396C>G	6.37:g.1611076C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L132	ENST00000380874.2	37	c.396	CCDS4473.1	6																																																																																			FOXC1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.597	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1	C			1611076	+1	no_errors	ENST00000380874	ensembl	human	known	70_37	silent	SNP	1.000	G
FOXD2	2306	genome.wustl.edu	37	1	47904257	47904257	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:47904257G>C	ENST00000334793.5	+	1	2569	c.450G>C	c.(448-450)ttG>ttC	p.L150F		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GGCTGACGTTGAGCGAGATCT	0.642																																																	0													45.0	53.0	50.0					1																	47904257		2203	4300	6503	SO:0001583	missense	2306			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.450G>C	1.37:g.47904257G>C	ENSP00000335493:p.Leu150Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVZ3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L150F	ENST00000334793.5	37	c.450	CCDS30708.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064131	0.55432	.	.	ENSG00000186564	ENST00000334793	D	0.97529	-4.42	4.19	2.14	0.27477	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000001	D	0.98848	0.9611	H	0.99011	4.4	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.97448	1.0026	10	0.87932	D	0	.	6.9614	0.24599	0.0999:0.3143:0.5858:0.0	.	150	O60548	FOXD2_HUMAN	F	150	ENSP00000335493:L150F	ENSP00000335493:L150F	L	+	3	2	FOXD2	47676844	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	0.245000	0.18142	0.735000	0.32537	-0.450000	0.05554	TTG	FOXD2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.642	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	HGNC	protein_coding	OTTHUMT00000021831.1	G	NM_004474		47904257	+1	no_errors	ENST00000334793	ensembl	human	known	70_37	missense	SNP	1.000	C
FOXP1	27086	genome.wustl.edu	37	3	71015120	71015120	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:71015120C>T	ENST00000318789.4	-	20	2335	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	FOXP1_ENST00000484350.1_Missense_Mutation_p.E528K|FOXP1_ENST00000498215.1_Missense_Mutation_p.E604K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E603K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E540K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E604K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E606K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	604					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTCAGCTCTTCCCGTATTGCG	0.512			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													260.0	221.0	234.0					3																	71015120		2203	4300	6503	SO:0001583	missense	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1810G>A	3.37:g.71015120C>T	ENSP00000318902:p.Glu604Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E604K	ENST00000318789.4	37	c.1810	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.631592	0.96682	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.90844	-2.62;-2.62;-2.72;-2.74;-2.62;-2.62;-2.62;-2.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	L	0.58101	1.795	0.80722	D	1	D;D;P	0.71674	0.998;0.985;0.944	D;D;P	0.78314	0.991;0.926;0.599	D	0.93049	0.6464	10	0.40728	T	0.16	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	603;528;604	G5E9V8;Q8NAN6;Q9H334	.;.;FOXP1_HUMAN	K	604;416;604;500;606;603;604;528;540	ENSP00000318902:E604K;ENSP00000419393:E604K;ENSP00000418225:E500K;ENSP00000420736:E606K;ENSP00000418524:E603K;ENSP00000418102:E604K;ENSP00000417857:E528K;ENSP00000418883:E540K	ENSP00000318902:E604K	E	-	1	0	FOXP1	71097810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.815000	0.96918	0.561000	0.74099	GAA	FOXP1	-	NULL		0.512	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	C	NM_032682		71015120	-1	no_errors	ENST00000318789	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXP4	116113	genome.wustl.edu	37	6	41562607	41562607	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:41562607G>A	ENST00000307972.4	+	13	1548		c.e13-1		FOXP4_ENST00000373057.3_Splice_Site|FOXP4_ENST00000409208.1_Splice_Site|FOXP4_ENST00000373060.1_Splice_Site|FOXP4_ENST00000373063.3_Splice_Site			Q8IVH2	FOXP4_HUMAN	forkhead box P4						embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCACAGAACGCCGTGC	0.612											OREG0004067	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													87.0	66.0	73.0					6																	41562607		2203	4300	6503	SO:0001630	splice_region_variant	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1537-1G>A	6.37:g.41562607G>A		Somatic	902	WXS	Illumina HiSeq	Phase_IV	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Splice_Site	SNP	-	e13-1	ENST00000307972.4	37	c.1537-1	CCDS34447.1	6	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437384	0.62955	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0553	0.80798	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXP4	41670585	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	9.559000	0.98135	2.108000	0.64289	0.563000	0.77884	.	FOXP4	-	-		0.612	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1	G	NM_138457	Intron	41562607	+1	no_errors	ENST00000307972	ensembl	human	known	70_37	splice_site	SNP	1.000	A
FOXR2	139628	genome.wustl.edu	37	X	55650352	55650352	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:55650352G>C	ENST00000339140.3	+	1	520	c.208G>C	c.(208-210)Gat>Cat	p.D70H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	70					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTGATGGAGATGGTCCTCC	0.547																																																	0													86.0	78.0	80.0					X																	55650352		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.208G>C	X.37:g.55650352G>C	ENSP00000427329:p.Asp70His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.D70H	ENST00000339140.3	37	c.208	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376100	0.42105	.	.	ENSG00000189299	ENST00000339140	D	0.94537	-3.45	3.56	3.56	0.40772	.	1.714390	0.04169	U	0.324378	D	0.96744	0.8937	M	0.67397	2.05	0.09310	N	0.999998	D	0.89917	1.0	D	0.70487	0.969	D	0.86805	0.1994	10	0.87932	D	0	.	9.7019	0.40192	0.0:0.0:1.0:0.0	.	70	Q6PJQ5	FOXR2_HUMAN	H	70	ENSP00000427329:D70H	ENSP00000427329:D70H	D	+	1	0	FOXR2	55667077	0.931000	0.31567	0.103000	0.21229	0.004000	0.04260	1.396000	0.34531	2.037000	0.60232	0.600000	0.82982	GAT	FOXR2	-	NULL		0.547	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55650352	+1	no_errors	ENST00000339140	ensembl	human	known	70_37	missense	SNP	0.113	C
FREM3	166752	genome.wustl.edu	37	4	144617229	144617229	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:144617229C>T	ENST00000329798.5	-	1	4599	c.4600G>A	c.(4600-4602)Gat>Aat	p.D1534N		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1534					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TTCTTATTATCCACATCAGTG	0.413																																																	0													125.0	103.0	109.0					4																	144617229		692	1591	2283	SO:0001583	missense	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.4600G>A	4.37:g.144617229C>T	ENSP00000332886:p.Asp1534Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D1534N	ENST00000329798.5	37	c.4600	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892710	0.17613	.	.	ENSG00000183090	ENST00000329798	T	0.20332	2.08	4.2	1.44	0.22558	.	0.068669	0.56097	D	0.000035	T	0.22126	0.0533	L	0.45051	1.395	0.43835	D	0.996411	.	.	.	.	.	.	T	0.02581	-1.1138	8	0.29301	T	0.29	-3.3314	8.9158	0.35581	0.0:0.7333:0.0:0.2667	.	.	.	.	N	1534	ENSP00000332886:D1534N	ENSP00000332886:D1534N	D	-	1	0	FREM3	144836679	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	4.255000	0.58804	0.422000	0.26005	-0.251000	0.11542	GAT	FREM3	-	NULL		0.413	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	C	XM_094074		144617229	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	missense	SNP	0.896	T
FRMPD1	22844	genome.wustl.edu	37	9	37745883	37745883	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:37745883C>T	ENST00000539465.1	+	16	4447	c.3854C>T	c.(3853-3855)tCt>tTt	p.S1285F	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1285F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1285						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTGACAGCTCTAGCATCTGC	0.493																																																	0													115.0	113.0	114.0					9																	37745883		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3854C>T	9.37:g.37745883C>T	ENSP00000444411:p.Ser1285Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.S1285F	ENST00000539465.1	37	c.3854	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600166	0.46423	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08282	3.11;3.11	5.25	4.24	0.50183	.	1.106120	0.06686	N	0.768740	T	0.06690	0.0171	N	0.08118	0	0.47214	D	0.999358	P	0.44090	0.826	P	0.45037	0.467	T	0.34254	-0.9836	10	0.66056	D	0.02	-0.1483	5.8613	0.18749	0.0:0.8333:0.0:0.1667	.	1285	Q5SYB0	FRPD1_HUMAN	F	1285	ENSP00000366995:S1285F;ENSP00000444411:S1285F	ENSP00000366995:S1285F	S	+	2	0	FRMPD1	37735883	0.004000	0.15560	0.603000	0.28903	0.937000	0.57800	1.240000	0.32731	2.455000	0.83008	0.561000	0.74099	TCT	FRMPD1	-	NULL		0.493	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	C	NM_014907		37745883	+1	no_errors	ENST00000377765	ensembl	human	known	70_37	missense	SNP	0.581	T
FRMPD1	22844	genome.wustl.edu	37	9	37746008	37746008	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:37746008C>G	ENST00000539465.1	+	16	4572	c.3979C>G	c.(3979-3981)Ccc>Gcc	p.P1327A	FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1327A|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1327						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATGGTGGCTCCCAGGATAGG	0.552																																																	0													125.0	126.0	126.0					9																	37746008		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3979C>G	9.37:g.37746008C>G	ENSP00000444411:p.Pro1327Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.P1327A	ENST00000539465.1	37	c.3979	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897958	0.17686	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07444	3.19;3.19	5.38	4.47	0.54385	.	0.664558	0.15658	N	0.251026	T	0.05593	0.0147	N	0.11560	0.145	0.29808	N	0.831873	B	0.17667	0.023	B	0.17722	0.019	T	0.16158	-1.0412	10	0.40728	T	0.16	-14.8186	11.7794	0.52003	0.0:0.8145:0.1855:0.0	.	1327	Q5SYB0	FRPD1_HUMAN	A	1327	ENSP00000366995:P1327A;ENSP00000444411:P1327A	ENSP00000366995:P1327A	P	+	1	0	FRMPD1	37736008	0.008000	0.16893	0.016000	0.15963	0.690000	0.40134	0.821000	0.27338	1.238000	0.43771	0.561000	0.74099	CCC	FRMPD1	-	NULL		0.552	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	C	NM_014907		37746008	+1	no_errors	ENST00000377765	ensembl	human	known	70_37	missense	SNP	0.045	G
FRS2	10818	genome.wustl.edu	37	12	69968496	69968496	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:69968496G>A	ENST00000550389.1	+	7	1534	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	FRS2_ENST00000549921.1_Missense_Mutation_p.E430K|FRS2_ENST00000299293.2_Missense_Mutation_p.E430K|FRS2_ENST00000397997.2_Missense_Mutation_p.E430K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	430					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCCAAGTTTAGAACACAGGCA	0.453																																																	0													65.0	70.0	69.0					12																	69968496		2060	4209	6269	SO:0001583	missense	10818			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1288G>A	12.37:g.69968496G>A	ENSP00000447241:p.Glu430Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E430K	ENST00000550389.1	37	c.1288	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649926	0.67472	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	6.17	6.17	0.99709	.	0.209202	0.51477	D	0.000095	T	0.25568	0.0622	L	0.52573	1.65	0.54753	D	0.999988	P	0.43477	0.808	B	0.33339	0.162	T	0.02042	-1.1224	9	.	.	.	-23.094	20.8794	0.99867	0.0:0.0:1.0:0.0	.	430	Q8WU20	FRS2_HUMAN	K	430	ENSP00000299293:E430K;ENSP00000450048:E430K;ENSP00000447241:E430K;ENSP00000381083:E430K	.	E	+	1	0	FRS2	68254763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.296000	0.78790	2.941000	0.99782	0.655000	0.94253	GAA	FRS2	-	NULL		0.453	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	HGNC	protein_coding	OTTHUMT00000403760.1	G	NM_006654		69968496	+1	no_errors	ENST00000299293	ensembl	human	known	70_37	missense	SNP	1.000	A
FSIP2	401024	genome.wustl.edu	37	2	186655010	186655010	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:186655010C>T	ENST00000424728.1	+	16	3147	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Silent_p.I1138I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1049										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGAAATATCAAACCACCTA	0.328																																																	0																																										SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.3147C>T	2.37:g.186655010C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.I1138	ENST00000424728.1	37	c.3414		2																																																																																			FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186655010	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.000	T
FSIP2	401024	genome.wustl.edu	37	2	186670251	186670251	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:186670251C>T	ENST00000424728.1	+	17	16218	c.16218C>T	c.(16216-16218)ttC>ttT	p.F5406F	FSIP2_ENST00000343098.5_Silent_p.F5495F			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5406										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTCCACCTTCTTTTCATTTC	0.388																																																	0													99.0	91.0	93.0					2																	186670251		1837	4077	5914	SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16218C>T	2.37:g.186670251C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.F5495	ENST00000424728.1	37	c.16485		2																																																																																			FSIP2	-	NULL		0.388	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186670251	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.994	T
CMTR1	23070	genome.wustl.edu	37	6	37414095	37414095	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:37414095G>A	ENST00000373451.4	+	4	478	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	105	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GAAGGTGAAGGATTGGGTAAA	0.493																																																	0													165.0	161.0	162.0					6																	37414095		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.314G>A	6.37:g.37414095G>A	ENSP00000362550:p.Gly105Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.G105E	ENST00000373451.4	37	c.314	CCDS4835.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048431	0.93740	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.81163	-1.46;-1.46	5.44	5.44	0.79542	D111/G-patch (3);	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.95029	0.8167	10	0.87932	D	0	-10.0677	16.4315	0.83847	0.0:0.0:1.0:0.0	.	105;105	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	E	105	ENSP00000362550:G105E;ENSP00000414233:G105E	ENSP00000362526:G105E	G	+	2	0	FTSJD2	37522073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.553000	0.86117	0.655000	0.94253	GGA	FTSJD2	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.493	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	G	NM_015050		37414095	+1	no_errors	ENST00000373451	ensembl	human	known	70_37	missense	SNP	1.000	A
FUBP3	8939	genome.wustl.edu	37	9	133470931	133470931	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:133470931C>T	ENST00000319725.9	+	2	221	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	49					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GTGGACCCCTCAGTATATGGA	0.413																																																	0													180.0	164.0	169.0					9																	133470931		1850	4091	5941	SO:0001583	missense	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.146C>T	9.37:g.133470931C>T	ENSP00000318177:p.Ser49Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.S49L	ENST00000319725.9	37	c.146	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428121	0.62844	.	.	ENSG00000107164	ENST00000358721;ENST00000319725	T	0.47528	0.84	5.73	3.88	0.44766	.	0.062767	0.64402	D	0.000003	T	0.42743	0.1216	L	0.57536	1.79	0.80722	D	1	P	0.46512	0.879	B	0.40101	0.319	T	0.37150	-0.9718	10	0.54805	T	0.06	-2.3143	10.319	0.43753	0.0:0.7904:0.136:0.0737	.	49	Q96I24	FUBP3_HUMAN	L	36;49	ENSP00000318177:S49L	ENSP00000318177:S49L	S	+	2	0	FUBP3	132460752	0.996000	0.38824	0.854000	0.33618	0.992000	0.81027	3.749000	0.55150	0.768000	0.33290	0.655000	0.94253	TCA	FUBP3	-	NULL		0.413	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	C			133470931	+1	no_errors	ENST00000319725	ensembl	human	known	70_37	missense	SNP	0.983	T
FUNDC2	65991	genome.wustl.edu	37	X	154279971	154279971	+	Missense_Mutation	SNP	A	A	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:154279971A>C	ENST00000369498.3	+	4	641	c.387A>C	c.(385-387)aaA>aaC	p.K129N	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	129						mitochondrion (GO:0005739)|nucleus (GO:0005634)				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)					GGTACATCAAAGTTGACTGGC	0.408																																																	0													101.0	76.0	85.0					X																	154279971		2203	4300	6503	SO:0001583	missense	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.387A>C	X.37:g.154279971A>C	ENSP00000358510:p.Lys129Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	pfam_FUN14	p.K129N	ENST00000369498.3	37	c.387	CCDS14763.1	X	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537537	0.27475	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.14	1.28	0.21552	.	0.062472	0.64402	U	0.000007	T	0.54549	0.1865	L	0.48362	1.52	0.39735	D	0.971666	D	0.57899	0.981	P	0.60117	0.869	T	0.50406	-0.8832	9	0.34782	T	0.22	.	6.687	0.23150	0.5983:0.0:0.4017:0.0	.	129	Q9BWH2	FUND2_HUMAN	N	129	.	ENSP00000358510:K129N	K	+	3	2	FUNDC2	153933165	1.000000	0.71417	0.968000	0.41197	0.979000	0.70002	0.853000	0.27777	0.216000	0.20781	0.345000	0.21793	AAA	FUNDC2	-	pfam_FUN14		0.408	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC2	HGNC	protein_coding	OTTHUMT00000037641.3	A	NM_023934		154279971	+1	no_errors	ENST00000369498	ensembl	human	known	70_37	missense	SNP	0.924	C
FUT3	2525	genome.wustl.edu	37	19	5844386	5844386	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5844386G>A	ENST00000303225.6	-	3	1099	c.465C>T	c.(463-465)ctC>ctT	p.L155L	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Silent_p.L155L|FUT3_ENST00000589918.1_Silent_p.L155L|FUT3_ENST00000589620.1_Silent_p.L155L	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	155					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGACATGGTGAGATTGAAGT	0.647																																					Esophageal Squamous(82;745 1728 24593 44831)												0													62.0	56.0	58.0					19																	5844386		2203	4300	6503	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.465C>T	19.37:g.5844386G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	pfam_Glyco_trans_10	p.L155	ENST00000303225.6	37	c.465	CCDS12153.1	19																																																																																			FUT3	-	pfam_Glyco_trans_10		0.647	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	G	NM_000149		5844386	-1	no_errors	ENST00000303225	ensembl	human	known	70_37	silent	SNP	1.000	A
FUT8	2530	genome.wustl.edu	37	14	66188690	66188690	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:66188690G>C	ENST00000360689.5	+	8	2760	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	FUT8_ENST00000394585.1_Missense_Mutation_p.E345Q|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.E345Q|FUT8_ENST00000358307.2_Missense_Mutation_p.E216Q|FUT8_ENST00000557164.1_Missense_Mutation_p.E182Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	345	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.E345*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTAGAAAAAGAAATAGAAGA	0.448																																																	2	Substitution - Nonsense(2)	large_intestine(2)											84.0	83.0	83.0					14																	66188690		2203	4300	6503	SO:0001583	missense	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1033G>C	14.37:g.66188690G>C	ENSP00000353910:p.Glu345Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.E345Q	ENST00000360689.5	37	c.1033	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501247	0.44455	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.55743	1.74	0.80722	D	1	P;P	0.39131	0.661;0.539	B;B	0.36186	0.059;0.219	T	0.03493	-1.1031	10	0.12766	T	0.61	-19.5966	17.2877	0.87146	0.0:0.0:1.0:0.0	.	216;345	G3XAD2;Q9BYC5	.;FUT8_HUMAN	Q	345;345;182;345;216	ENSP00000353910:E345Q;ENSP00000378087:E345Q;ENSP00000452433:E182Q;ENSP00000378086:E345Q;ENSP00000351057:E216Q	ENSP00000351057:E216Q	E	+	1	0	FUT8	65258443	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.668000	0.90789	0.563000	0.77884	GAA	FUT8	-	pirsf_Alpha1_6FUT_euk		0.448	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	G	NM_004480		66188690	+1	no_errors	ENST00000360689	ensembl	human	known	70_37	missense	SNP	1.000	C
FZD5	7855	genome.wustl.edu	37	2	208633201	208633201	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:208633201G>A	ENST00000295417.3	-	2	816	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	88	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.			S -> T (in Ref. 1; AAC50385). {ECO:0000305}.	angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGTGTACATAGAGCATAGGAA	0.667																																																	0													67.0	59.0	62.0					2																	208633201		2203	4300	6503	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.263C>T	2.37:g.208633201G>A	ENSP00000354607:p.Ser88Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S88F	ENST00000295417.3	37	c.263	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437183	0.62955	.	.	ENSG00000163251	ENST00000295417	T	0.77877	-1.13	4.61	3.66	0.41972	Frizzled domain (5);	0.234213	0.37669	N	0.001983	D	0.90116	0.6912	M	0.93150	3.385	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92418	0.5943	10	0.87932	D	0	.	13.299	0.60313	0.0:0.3309:0.6691:0.0	.	88	Q13467	FZD5_HUMAN	F	88	ENSP00000354607:S88F	ENSP00000354607:S88F	S	-	2	0	FZD5	208341446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.681000	0.37618	2.126000	0.65437	0.561000	0.74099	TCT	FZD5	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.667	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	G	NM_003468		208633201	-1	no_errors	ENST00000295417	ensembl	human	known	70_37	missense	SNP	1.000	A
G6PC3	92579	genome.wustl.edu	37	17	42151565	42151565	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42151565G>C	ENST00000269097.4	+	2	487	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	86					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGGGTCCATGAGTCTGGTTA	0.537																																																	0													246.0	236.0	240.0					17																	42151565		2203	4300	6503	SO:0001583	missense	92579			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.256G>C	17.37:g.42151565G>C	ENSP00000269097:p.Glu86Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WU15	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.E86Q	ENST00000269097.4	37	c.256	CCDS11476.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945089	0.73672	.	.	ENSG00000141349	ENST00000269097	T	0.75704	-0.96	5.1	5.1	0.69264	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.057762	0.64402	D	0.000003	T	0.76997	0.4066	M	0.65320	2	0.45378	D	0.998361	P	0.48089	0.905	P	0.47376	0.545	T	0.79572	-0.1748	10	0.54805	T	0.06	-24.4751	15.4456	0.75228	0.0:0.0:1.0:0.0	.	86	Q9BUM1	G6PC3_HUMAN	Q	86	ENSP00000269097:E86Q	ENSP00000269097:E86Q	E	+	1	0	G6PC3	39507091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.547000	0.73892	2.368000	0.80403	0.561000	0.74099	GAG	G6PC3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase		0.537	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC3	HGNC	protein_coding	OTTHUMT00000457675.1	G	NM_138387		42151565	+1	no_errors	ENST00000269097	ensembl	human	known	70_37	missense	SNP	1.000	C
GABBR2	9568	genome.wustl.edu	37	9	101235587	101235587	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:101235587G>A	ENST00000259455.2	-	6	1299	c.840C>T	c.(838-840)atC>atT	p.I280I	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	280					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCCCGGAATGATCCACTGAT	0.532																																																	0													150.0	127.0	135.0					9																	101235587		2203	4300	6503	SO:0001819	synonymous_variant	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.840C>T	9.37:g.101235587G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3	p.I280	ENST00000259455.2	37	c.840	CCDS6736.1	9																																																																																			GABBR2	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1		0.532	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	G			101235587	-1	no_errors	ENST00000259455	ensembl	human	known	70_37	silent	SNP	1.000	A
GABRA5	2558	genome.wustl.edu	37	15	27184442	27184442	+	Intron	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:27184442C>A	ENST00000335625.5	+	9	1612				GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron|GABRB3_ENST00000541819.2_Nonsense_Mutation_p.E48*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCTCGTGCCTCCCACACAGCC	0.572																																																	0													186.0	157.0	166.0					15																	27184442		876	1991	2867	SO:0001627	intron_variant	2562				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-630C>A	15.37:g.27184442C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E48*	ENST00000335625.5	37	c.142	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	C	38	6.661465	0.97743	.	.	ENSG00000166206	ENST00000541819	.	.	.	5.44	2.45	0.29901	.	2.499360	0.01237	N	0.008505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	7.3419	0.26641	0.0:0.5238:0.0:0.4762	.	.	.	.	X	48	.	ENSP00000442408:E48X	E	-	1	0	GABRB3	24767188	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.447000	0.44917	0.232000	0.21100	0.561000	0.74099	GAG	GABRB3	-	NULL		0.572	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000415234.1	C			27184442	-1	no_errors	ENST00000541819	ensembl	human	putative	70_37	nonsense	SNP	1.000	A
GABRQ	55879	genome.wustl.edu	37	X	151818219	151818219	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:151818219G>A	ENST00000370306.2	+	6	645	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	209					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTACACGGTTGAAGACATCAT	0.443																																																	0													146.0	121.0	130.0					X																	151818219		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.625G>A	X.37:g.151818219G>A	ENSP00000359329:p.Glu209Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E209K	ENST00000370306.2	37	c.625	CCDS14707.1	X	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732640	0.69189	.	.	ENSG00000147402	ENST00000370306	T	0.79247	-1.25	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.251879	0.28589	N	0.014818	T	0.81178	0.4768	L	0.28694	0.88	0.53688	D	0.999971	D	0.63880	0.993	D	0.63113	0.911	T	0.82810	-0.0273	10	0.62326	D	0.03	.	16.2847	0.82712	0.0:0.0:1.0:0.0	.	209	Q9UN88	GBRT_HUMAN	K	209	ENSP00000359329:E209K	ENSP00000359329:E209K	E	+	1	0	GABRQ	151568875	1.000000	0.71417	0.515000	0.27774	0.129000	0.20672	9.564000	0.98151	2.450000	0.82876	0.600000	0.82982	GAA	GABRQ	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.443	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	G	NM_018558		151818219	+1	no_errors	ENST00000370306	ensembl	human	known	70_37	missense	SNP	1.000	A
GAL3ST4	79690	genome.wustl.edu	37	7	99764665	99764665	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:99764665C>G	ENST00000360039.4	-	2	446	c.54G>C	c.(52-54)ctG>ctC	p.L18L	GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000411994.1_Silent_p.L18L|GAL3ST4_ENST00000413800.1_Silent_p.L18L|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G58R|GAL3ST4_ENST00000423751.1_Silent_p.L18L|GPC2_ENST00000471050.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	18					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCACCCCCAGGCTCCGAG	0.632																																																	0													24.0	27.0	26.0					7																	99764665		2191	4287	6478	SO:0001819	synonymous_variant	79690			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.54G>C	7.37:g.99764665C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.G58R	ENST00000360039.4	37	c.172	CCDS5688.1	7	.	.	.	.	.	.	.	.	.	.	C	1.564	-0.535989	0.04082	.	.	ENSG00000197093	ENST00000426974	T	0.31769	1.48	5.08	1.08	0.20341	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.21064	N	0.999795	B	0.13594	0.008	B	0.14578	0.011	T	0.30238	-0.9985	8	0.17369	T	0.5	-5.4606	1.072	0.01623	0.1377:0.3764:0.1925:0.2934	.	58	B4DWL8	.	R	58	ENSP00000398304:G58R	ENSP00000398304:G58R	G	-	1	0	GAL3ST4	99602601	0.762000	0.28451	1.000000	0.80357	0.962000	0.63368	-0.126000	0.10563	0.206000	0.20587	-0.362000	0.07510	GGG	GAL3ST4	-	NULL		0.632	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST4	HGNC	protein_coding	OTTHUMT00000337495.2	C	NM_024637		99764665	-1	no_errors	ENST00000426974	ensembl	human	known	70_37	missense	SNP	0.997	G
GANC	2595	genome.wustl.edu	37	15	42631869	42631869	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:42631869G>C	ENST00000318010.8	+	17	2086	c.1846G>C	c.(1846-1848)Gac>Cac	p.D616H		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	616					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCTTCCAGCTGACATAGGCGG	0.517																																																	0													106.0	106.0	106.0					15																	42631869		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1846G>C	15.37:g.42631869G>C	ENSP00000326227:p.Asp616His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.D616H	ENST00000318010.8	37	c.1846	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143848	0.77888	.	.	ENSG00000214013	ENST00000318010	D	0.97811	-4.55	5.87	5.87	0.94306	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.99794	4.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97757	1.0218	10	0.87932	D	0	-23.6564	20.2181	0.98305	0.0:0.0:1.0:0.0	.	616	Q8TET4	GANC_HUMAN	H	616	ENSP00000326227:D616H	ENSP00000326227:D616H	D	+	1	0	GANC	40419161	1.000000	0.71417	0.999000	0.59377	0.406000	0.30931	9.808000	0.99193	2.785000	0.95823	0.655000	0.94253	GAC	GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.517	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	G	NM_198141		42631869	+1	no_errors	ENST00000318010	ensembl	human	known	70_37	missense	SNP	1.000	C
GAPDHS	26330	genome.wustl.edu	37	19	36035818	36035818	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36035818C>G	ENST00000222286.4	+	10	1180	c.1064C>G	c.(1063-1065)tCt>tGt	p.S355C	AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392204.2_5'Flank|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	355					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGTCGTCTCTACGGACTTC	0.522																																																	0													111.0	100.0	104.0					19																	36035818		2203	4300	6503	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.1064C>G	19.37:g.36035818C>G	ENSP00000222286:p.Ser355Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.S355C	ENST00000222286.4	37	c.1064	CCDS12465.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157931	0.78114	.	.	ENSG00000105679	ENST00000222286	T	0.60424	0.19	4.71	4.71	0.59529	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91086	0.4903	10	0.87932	D	0	-33.5641	15.5386	0.76021	0.0:1.0:0.0:0.0	.	355	O14556	G3PT_HUMAN	C	355	ENSP00000222286:S355C	ENSP00000222286:S355C	S	+	2	0	GAPDHS	40727658	1.000000	0.71417	0.997000	0.53966	0.360000	0.29518	7.609000	0.82925	2.623000	0.88846	0.561000	0.74099	TCT	GAPDHS	-	pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1		0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	C	NM_014364		36035818	+1	no_errors	ENST00000222286	ensembl	human	known	70_37	missense	SNP	1.000	G
GAPVD1	26130	genome.wustl.edu	37	9	128122832	128122832	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:128122832C>T	ENST00000495955.1	+	27	4414	c.4124C>T	c.(4123-4125)cCa>cTa	p.P1375L	GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1384L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1349L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1375L|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P1330L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1336L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1357L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1309L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1375	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCACCATGGCCATCTGCACAA	0.468																																																	0													128.0	114.0	118.0					9																	128122832		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4124C>T	9.37:g.128122832C>T	ENSP00000419063:p.Pro1375Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.P1384L	ENST00000495955.1	37	c.4151		9	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922464	0.73213	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.66	5.66	0.87406	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.37561	1.115	0.80722	D	1	B;P;B;P;P;P	0.42123	0.241;0.771;0.323;0.724;0.532;0.553	B;B;B;P;B;P	0.50440	0.394;0.348;0.41;0.641;0.41;0.583	T	0.17776	-1.0358	10	0.87932	D	0	.	18.7139	0.91668	0.0:1.0:0.0:0.0	.	1375;390;1330;1336;1357;1384	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	L	1330;1384;1375;1349;1309;1375;1357;1336;68	ENSP00000419767:P1330L;ENSP00000377665:P1384L;ENSP00000377664:P1375L;ENSP00000265956:P1349L;ENSP00000377645:P1309L;ENSP00000419063:P1375L;ENSP00000297933:P1357L;ENSP00000309582:P1336L	ENSP00000265956:P1349L	P	+	2	0	GAPVD1	127162653	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.664000	0.90586	0.591000	0.81541	CCA	GAPVD1	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9		0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	C			128122832	+1	no_errors	ENST00000394105	ensembl	human	known	70_37	missense	SNP	1.000	T
GART	2618	genome.wustl.edu	37	21	34892738	34892738	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:34892738G>A	ENST00000381831.3	-	14	1898	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	GART_ENST00000381815.4_Silent_p.L545L|GART_ENST00000543717.1_Silent_p.L97L|GART_ENST00000381839.3_Silent_p.L545L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	545	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGTTACACTGAGGTCAAGTT	0.413																																																	0													111.0	101.0	104.0					21																	34892738		2203	4300	6503	SO:0001819	synonymous_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1635C>T	21.37:g.34892738G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L545	ENST00000381831.3	37	c.1635	CCDS13627.1	21																																																																																			GART	-	pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PurM_cligase		0.413	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	G	NM_000819		34892738	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	silent	SNP	0.001	A
GAS6	2621	genome.wustl.edu	37	13	114549990	114549990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:114549990G>A	ENST00000355761.4	-	1	66	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	GAS6_ENST00000357389.3_Intron|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000476291.1_5'Flank			Q14393	GAS6_HUMAN	growth arrest-specific 6	0					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGGCTGGCTGAACACAGCTT	0.572																																																	0													14.0	13.0	13.0					13																	114549990		875	1986	2861	SO:0001587	stop_gained	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000355761.4:c.67C>T	13.37:g.114549990G>A	ENSP00000348003:p.Gln23*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q23*	ENST00000355761.4	37	c.67		13	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024509	0.35701	.	.	ENSG00000183087	ENST00000355761	.	.	.	1.93	0.97	0.19692	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	3.9865	0.09517	0.2492:0.0:0.7508:0.0	.	.	.	.	X	23	.	ENSP00000348003:Q23X	Q	-	1	0	GAS6	113563953	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.749000	0.04813	0.311000	0.23014	0.491000	0.48974	CAG	GAS6	-	NULL		0.572	GAS6-201	KNOWN	basic	protein_coding	GAS6	HGNC	protein_coding		G	NM_000820		114549990	-1	no_errors	ENST00000355761	ensembl	human	known	70_37	nonsense	SNP	0.002	A
GATS	352954	genome.wustl.edu	37	7	99799678	99799678	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:99799678C>G	ENST00000436886.2	-	0	1337				STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Intron|STAG3_ENST00000440830.1_Intron|STAG3_ENST00000426455.1_Intron|GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand											endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTACTGACTCAAGTGGGAGC	0.488																																																	0													95.0	88.0	90.0					7																	99799678		2203	4300	6503	SO:0001624	3_prime_UTR_variant	352954			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.*597G>C	7.37:g.99799678C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	RNA	SNP	-	NULL	ENST00000436886.2	37	NULL	CCDS43621.1	7																																																																																			GATS	-	-		0.488	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GATS	HGNC	protein_coding		C	NM_178831		99799678	-1	no_errors	ENST00000543273	ensembl	human	known	70_37	rna	SNP	0.002	G
GBP1	2633	genome.wustl.edu	37	1	89520389	89520389	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:89520389C>G	ENST00000370473.4	-	10	1860	c.1641G>C	c.(1639-1641)gaG>gaC	p.E547D	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	547					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CGAGGGTCCTCTCTTGCTCTT	0.448																																																	0													223.0	217.0	219.0					1																	89520389		2203	4300	6503	SO:0001583	missense	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1641G>C	1.37:g.89520389C>G	ENSP00000359504:p.Glu547Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.E547D	ENST00000370473.4	37	c.1641	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059680	0.19987	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.57595	0.39	4.67	-0.822	0.10819	Guanylate-binding protein, C-terminal (3);	0.376773	0.26156	N	0.026020	T	0.21841	0.0526	L	0.60957	1.885	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.28106	-1.0054	10	0.46703	T	0.11	.	5.3744	0.16156	0.0:0.4455:0.1372:0.4173	.	547	P32455	GBP1_HUMAN	D	547;510	ENSP00000359504:E547D	ENSP00000359504:E547D	E	-	3	2	GBP1	89292977	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.491000	0.02302	-0.488000	0.06726	-0.326000	0.08463	GAG	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	C	NM_002053		89520389	-1	no_errors	ENST00000370473	ensembl	human	known	70_37	missense	SNP	0.000	G
GDAP2	54834	genome.wustl.edu	37	1	118461268	118461268	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:118461268G>A	ENST00000369443.5	-	3	516	c.267C>T	c.(265-267)atC>atT	p.I89I	GDAP2_ENST00000369442.3_Silent_p.I89I	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	89	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CAAGCATGAAGATACTTTCTG	0.368																																																	0													106.0	99.0	101.0					1																	118461268		2203	4300	6503	SO:0001819	synonymous_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.267C>T	1.37:g.118461268G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DZ0	Silent	SNP	pfam_A1pp,superfamily_CRAL-TRIO_dom,smart_A1pp,smart_CRAL-TRIO_dom,pfscan_A1pp	p.I89	ENST00000369443.5	37	c.267	CCDS897.1	1																																																																																			GDAP2	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.368	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	G	NM_017686		118461268	-1	no_errors	ENST00000369443	ensembl	human	known	70_37	silent	SNP	1.000	A
GDF9	2661	genome.wustl.edu	37	5	132200003	132200003	+	Missense_Mutation	SNP	C	C	T	rs568092622		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:132200003C>T	ENST00000378673.2	-	2	1089	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	GDF9_ENST00000296875.2_Missense_Mutation_p.G75R|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378667.1_5'Flank|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9	75					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGTGACCCACCTCGCCCA	0.498																																																	0													110.0	117.0	114.0					5																	132200003		2203	4300	6503	SO:0001583	missense	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.223G>A	5.37:g.132200003C>T	ENSP00000367942:p.Gly75Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.G75R	ENST00000378673.2	37	c.223	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650391	0.29336	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59364	0.27;0.27	5.82	4.96	0.65561	.	0.698819	0.15215	N	0.274258	T	0.64778	0.2629	M	0.77820	2.39	0.09310	N	1	D	0.54964	0.969	P	0.48030	0.564	T	0.59161	-0.7506	10	0.21540	T	0.41	.	14.8563	0.70341	0.0:0.9305:0.0:0.0695	.	75	O60383	GDF9_HUMAN	R	75	ENSP00000367942:G75R;ENSP00000296875:G75R	ENSP00000296875:G75R	G	-	1	0	GDF9	132227902	0.004000	0.15560	0.008000	0.14137	0.398000	0.30690	1.238000	0.32707	1.484000	0.48361	-0.126000	0.14955	GGG	GDF9	-	NULL		0.498	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	C	NM_005260		132200003	-1	no_errors	ENST00000296875	ensembl	human	known	70_37	missense	SNP	0.014	T
GET4	51608	genome.wustl.edu	37	7	933395	933395	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:933395C>T	ENST00000265857.3	+	7	859	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GET4_ENST00000407192.1_Silent_p.F202F	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	255					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGACGGTGTTCACTGTGCTGT	0.637																																																	0													109.0	71.0	84.0					7																	933395		2202	4297	6499	SO:0001819	synonymous_variant	51608			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.765C>T	7.37:g.933395C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Silent	SNP	pfam_UPF0363	p.F255	ENST00000265857.3	37	c.765	CCDS5317.1	7																																																																																			GET4	-	pfam_UPF0363		0.637	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	HGNC	protein_coding	OTTHUMT00000231930.1	C	NM_015949		933395	+1	no_errors	ENST00000265857	ensembl	human	known	70_37	silent	SNP	1.000	T
GHDC	84514	genome.wustl.edu	37	17	40342363	40342363	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:40342363C>G	ENST00000301671.8	-	8	1730				GHDC_ENST00000436923.2_Missense_Mutation_p.D435H|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000414034.3_Missense_Mutation_p.D435H|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000587427.1_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCTGCCCTATCTGTTCTTCCC	0.507																																																	0													144.0	116.0	125.0					17																	40342363		692	1591	2283	SO:0001627	intron_variant	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1289-75G>C	17.37:g.40342363C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.D435H	ENST00000301671.8	37	c.1303	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295826	0.23564	.	.	ENSG00000167925	ENST00000414034;ENST00000436923	.	.	.	3.69	-0.679	0.11350	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	7	0.52906	T	0.07	.	3.3879	0.07278	0.0:0.4384:0.2031:0.3585	.	435	Q8N2G8-2	.	H	435	.	ENSP00000399952:D435H	D	-	1	0	GHDC	37595889	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.079000	0.11357	0.037000	0.15575	-0.304000	0.09214	GAT	GHDC	-	NULL		0.507	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	C	NM_032484		40342363	-1	no_errors	ENST00000436923	ensembl	human	known	70_37	missense	SNP	0.000	G
GHDC	84514	genome.wustl.edu	37	17	40342672	40342672	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:40342672C>G	ENST00000301671.8	-	7	1699	c.1258G>C	c.(1258-1260)Gac>Cac	p.D420H	GHDC_ENST00000436923.2_Missense_Mutation_p.D420H|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000414034.3_Missense_Mutation_p.D420H|GHDC_ENST00000593209.1_Missense_Mutation_p.D420H|GHDC_ENST00000428494.2_Missense_Mutation_p.D381H|GHDC_ENST00000587427.1_Missense_Mutation_p.D420H			Q8N2G8	GHDC_HUMAN	GH3 domain containing	420				D -> G (in Ref. 2; BAC11514). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGCCATGGTCCAGCAGCTTG	0.642																																																	0													33.0	32.0	32.0					17																	40342672		2203	4300	6503	SO:0001583	missense	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1258G>C	17.37:g.40342672C>G	ENSP00000301671:p.Asp420His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.D420H	ENST00000301671.8	37	c.1258	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917126	0.52546	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.18	4.18	0.49190	.	0.059460	0.64402	D	0.000003	T	0.76983	0.4064	M	0.79926	2.475	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	T	0.78748	-0.2083	9	0.59425	D	0.04	-17.1521	9.4557	0.38753	0.0:0.9029:0.0:0.0971	.	381;420;420	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	H	364;381;420;420;420	.	ENSP00000301671:D420H	D	-	1	0	GHDC	37596198	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	3.919000	0.56439	2.146000	0.66826	0.561000	0.74099	GAC	GHDC	-	pfam_GH3		0.642	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	C	NM_032484		40342672	-1	no_errors	ENST00000301671	ensembl	human	known	70_37	missense	SNP	1.000	G
GGA3	23163	genome.wustl.edu	37	17	73236973	73236973	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73236973G>C	ENST00000245541.6	-	11	1328	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	GGA3_ENST00000582486.1_Missense_Mutation_p.S299C|GGA3_ENST00000582717.1_Missense_Mutation_p.S299C|GGA3_ENST00000351904.7_Missense_Mutation_p.S338C|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000578348.1_Missense_Mutation_p.S249C|GGA3_ENST00000538886.1_Missense_Mutation_p.S249C	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	371	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGCCTGGCTAGAGGAGCGGCT	0.682											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49.0	46.0	47.0					17																	73236973		2203	4300	6503	SO:0001583	missense	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1112C>G	17.37:g.73236973G>C	ENSP00000245541:p.Ser371Cys	Somatic	1143	WXS	Illumina HiSeq	Phase_IV	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_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.S371C	ENST00000245541.6	37	c.1112	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	4.793	0.147525	0.09134	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.51071	1.98;0.72	5.7	4.72	0.59763	.	0.552404	0.20964	N	0.082511	T	0.59335	0.2186	L	0.55481	1.735	0.36413	D	0.863879	B;D;D	0.71674	0.014;0.998;0.993	B;P;P	0.61592	0.007;0.891;0.72	T	0.68168	-0.5480	10	0.62326	D	0.03	-20.6138	11.7463	0.51821	0.068:0.1244:0.8076:0.0	.	249;338;371	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	C	371;338;299;249	ENSP00000245541:S371C;ENSP00000326575:S338C	ENSP00000245541:S371C	S	-	2	0	GGA3	70748568	0.997000	0.39634	0.878000	0.34440	0.028000	0.11728	2.601000	0.46249	1.377000	0.46286	0.655000	0.94253	TCT	GGA3	-	NULL		0.682	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	G	NM_138619		73236973	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	missense	SNP	0.453	C
GIMAP2	26157	genome.wustl.edu	37	7	150389519	150389519	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150389519G>A	ENST00000223293.5	+	3	239	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	49	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAGCATTTGAATCGAAGCT	0.478																																																	0													75.0	71.0	72.0					7																	150389519		2203	4300	6503	SO:0001583	missense	26157			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.145G>A	7.37:g.150389519G>A	ENSP00000223293:p.Glu49Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96L25	Missense_Mutation	SNP	pfam_AIG1	p.E49K	ENST00000223293.5	37	c.145	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	G	9.795	1.178910	0.21787	.	.	ENSG00000106560	ENST00000223293	T	0.61040	0.14	3.8	1.69	0.24217	AIG1 (1);	0.303339	0.30639	N	0.009195	T	0.40448	0.1117	L	0.31845	0.965	0.40221	D	0.97773	B	0.27416	0.178	B	0.29353	0.101	T	0.13442	-1.0509	10	0.13470	T	0.59	.	9.2623	0.37619	0.0:0.4367:0.5633:0.0	.	49	Q9UG22	GIMA2_HUMAN	K	49	ENSP00000223293:E49K	ENSP00000223293:E49K	E	+	1	0	GIMAP2	150020452	0.000000	0.05858	0.225000	0.23894	0.204000	0.24138	-0.415000	0.07106	0.908000	0.36671	0.609000	0.83330	GAA	GIMAP2	-	pfam_AIG1		0.478	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1	G	NM_015660		150389519	+1	no_errors	ENST00000223293	ensembl	human	known	70_37	missense	SNP	0.634	A
GIMAP1	170575	genome.wustl.edu	37	7	150417411	150417411	+	Missense_Mutation	SNP	C	C	A	rs371565531		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150417411C>A	ENST00000307194.5	+	3	459	c.319C>A	c.(319-321)Ctc>Atc	p.L107I		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	107	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCTACCTGCTCTCGGCCCC	0.632																																																	0													49.0	44.0	46.0					7																	150417411		2203	4300	6503	SO:0001583	missense	170575			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.319C>A	7.37:g.150417411C>A	ENSP00000302833:p.Leu107Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI3|Q8NAZ0	Missense_Mutation	SNP	pfam_AIG1	p.L107I	ENST00000307194.5	37	c.319	CCDS5906.1	7	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099368	0.37048	.	.	ENSG00000213203	ENST00000307194	T	0.07800	3.16	4.72	3.85	0.44370	AIG1 (1);	0.777468	0.10978	U	0.612966	T	0.28466	0.0704	M	0.83483	2.645	0.09310	N	1	P	0.43633	0.813	P	0.60473	0.875	T	0.05007	-1.0912	10	0.56958	D	0.05	.	8.5576	0.33492	0.0:0.8955:0.0:0.1045	.	107	Q8WWP7	GIMA1_HUMAN	I	107	ENSP00000302833:L107I	ENSP00000302833:L107I	L	+	1	0	GIMAP1	150048344	0.061000	0.20836	0.877000	0.34402	0.079000	0.17450	0.772000	0.26647	1.235000	0.43724	0.655000	0.94253	CTC	GIMAP1	-	pfam_AIG1		0.632	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2	C	NM_130759		150417411	+1	no_errors	ENST00000307194	ensembl	human	known	70_37	missense	SNP	0.086	A
GIPC3	126326	genome.wustl.edu	37	19	3585802	3585802	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:3585802C>G	ENST00000322315.5	+	1	252	c.207C>G	c.(205-207)ttC>ttG	p.F69L		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	69										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAAGCCTTCGGGATCGCGC	0.692																																																	0																																										SO:0001583	missense	126326			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.207C>G	19.37:g.3585802C>G	ENSP00000319254:p.Phe69Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75227	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.F69L	ENST00000322315.5	37	c.207	CCDS32871.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946135	0.73672	.	.	ENSG00000179855	ENST00000322315	D	0.86497	-2.13	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.78916	2.43	0.58432	D	0.999997	D	0.58268	0.982	D	0.69142	0.962	D	0.90670	0.4597	10	0.59425	D	0.04	-19.1315	7.086	0.25257	0.0:0.8706:0.0:0.1294	.	69	Q8TF64	GIPC3_HUMAN	L	69	ENSP00000319254:F69L	ENSP00000319254:F69L	F	+	3	2	GIPC3	3536802	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.741000	0.26202	1.584000	0.49913	0.491000	0.48974	TTC	GIPC3	-	pirsf_UCP038083_PDZ		0.692	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1	C	NM_133261		3585802	+1	no_errors	ENST00000322315	ensembl	human	known	70_37	missense	SNP	1.000	G
GIT2	9815	genome.wustl.edu	37	12	110370926	110370926	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:110370926C>T	ENST00000355312.3	-	20	2136	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000354574.4_Missense_Mutation_p.E635K|GIT2_ENST00000360185.4_Missense_Mutation_p.E663K|GIT2_ENST00000338373.5_Missense_Mutation_p.E615K|GIT2_ENST00000356259.4_Missense_Mutation_p.E600K|GIT2_ENST00000457474.2_Missense_Mutation_p.E635K|GIT2_ENST00000343646.5_Missense_Mutation_p.E603K|GIT2_ENST00000551209.1_Missense_Mutation_p.E662K|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Missense_Mutation_p.E585K|GIT2_ENST00000361006.5_Missense_Mutation_p.E683K	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	713					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ttcttgcactctgactgcagt	0.557																																																	0													81.0	66.0	71.0					12																	110370926		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.2137G>A	12.37:g.110370926C>T	ENSP00000347464:p.Glu713Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.E713K	ENST00000355312.3	37	c.2137	CCDS9138.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.545580	0.96488	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000546613;ENST00000548000	T;T;T;T;T;T;T;T;T;T	0.77358	-0.95;-1.06;-0.88;-0.85;-1.03;-0.8;-0.85;-0.94;-0.96;-1.09	5.53	5.53	0.82687	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	M	0.82630	2.6	0.46260	D	0.998952	D;D;D;D;P	0.71674	0.981;0.981;0.998;0.985;0.912	D;D;D;D;P	0.83275	0.943;0.958;0.996;0.975;0.827	D	0.88177	0.2868	10	0.39692	T	0.17	.	18.4469	0.90688	0.0:1.0:0.0:0.0	.	635;635;585;713;683	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	K	713;663;635;615;603;600;635;683;585;662;99;99;115	ENSP00000347464:E713K;ENSP00000353312:E663K;ENSP00000346585:E635K;ENSP00000340342:E615K;ENSP00000340938:E603K;ENSP00000348595:E600K;ENSP00000391813:E635K;ENSP00000354282:E683K;ENSP00000447465:E585K;ENSP00000448832:E662K	ENSP00000340342:E615K	E	-	1	0	GIT2	108855309	1.000000	0.71417	0.985000	0.45067	0.673000	0.39480	6.003000	0.70701	2.593000	0.87608	0.455000	0.32223	GAG	GIT2	-	pfam_GIT1_C		0.557	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	C	NM_057169		110370926	-1	no_errors	ENST00000355312	ensembl	human	known	70_37	missense	SNP	1.000	T
GLB1	2720	genome.wustl.edu	37	3	33059991	33059991	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:33059991G>C	ENST00000399402.3	-	13	1337	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	GLB1_ENST00000307377.8_Silent_p.L301L|GLB1_ENST00000307363.5_Silent_p.L432L|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Silent_p.L480L	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	432					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGGGTGAAGAGAGAGGTGCTG	0.468																																																	0													167.0	165.0	166.0					3																	33059991		1974	4162	6136	SO:0001819	synonymous_variant	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1206C>G	3.37:g.33059991G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7H8|B7Z6B0|P16279	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.L480	ENST00000399402.3	37	c.1440	CCDS43062.1	3																																																																																			GLB1	-	NULL		0.468	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	G	NM_000404		33059991	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	silent	SNP	0.984	C
GLIS2	84662	genome.wustl.edu	37	16	4384930	4384930	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4384930C>G	ENST00000262366.3	+	5	1295	c.474C>G	c.(472-474)ctC>ctG	p.L158L	PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Silent_p.L158L			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	158	Interaction with CTNND1. {ECO:0000250}.|Transcription repression. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACAAGTGCCTCTCGCCAGACC	0.672																																																	0													42.0	48.0	46.0					16																	4384930		2196	4300	6496	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.474C>G	16.37:g.4384930C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L158	ENST00000262366.3	37	c.474	CCDS10511.1	16																																																																																			GLIS2	-	NULL		0.672	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4384930	+1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	1.000	G
GLIS2	84662	genome.wustl.edu	37	16	4385353	4385353	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4385353C>T	ENST00000262366.3	+	7	1555	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Missense_Mutation_p.S245F			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	245					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAGAGCTTCTCCCGCCTGGAG	0.652																																																	0													76.0	77.0	77.0					16																	4385353		2196	4300	6496	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.734C>T	16.37:g.4385353C>T	ENSP00000262366:p.Ser245Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S245F	ENST00000262366.3	37	c.734	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.267315	0.95399	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.20200	2.09;2.09	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.130731	0.53938	D	0.000058	T	0.46600	0.1401	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39231	-0.9624	10	0.87932	D	0	.	18.3184	0.90229	0.0:1.0:0.0:0.0	.	245	Q9BZE0	GLIS2_HUMAN	F	245	ENSP00000262366:S245F;ENSP00000395547:S245F	ENSP00000262366:S245F	S	+	2	0	GLIS2	4325354	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.968000	0.70413	2.619000	0.88677	0.561000	0.74099	TCC	GLIS2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4385353	+1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	1.000	T
GLIS3	169792	genome.wustl.edu	37	9	4125815	4125815	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:4125815G>C	ENST00000324333.10	-	2	243	c.50C>G	c.(49-51)tCt>tGt	p.S17C	GLIS3_ENST00000381971.3_Missense_Mutation_p.S172C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	17					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCATGCTGTAGAGACCTGGCT	0.478																																																	0													209.0	178.0	188.0					9																	4125815		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.50C>G	9.37:g.4125815G>C	ENSP00000325494:p.Ser17Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S172C	ENST00000324333.10	37	c.515	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319997	0.81469	.	.	ENSG00000107249	ENST00000324333;ENST00000381971;ENST00000477901;ENST00000478844;ENST00000481827;ENST00000478315;ENST00000462164	T;T	0.15017	2.46;2.66	5.65	5.65	0.86999	.	0.128810	0.34507	N	0.003909	T	0.29355	0.0731	N	0.19112	0.55	0.39616	D	0.969955	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.65874	0.939;0.939;0.87	T	0.08411	-1.0723	10	0.87932	D	0	.	20.073	0.97731	0.0:0.0:1.0:0.0	.	47;172;17	Q1PHJ1;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	C	17;172;172;17;172;17;17	ENSP00000325494:S17C;ENSP00000371398:S172C	ENSP00000325494:S17C	S	-	2	0	GLIS3	4115815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.405000	0.80007	2.811000	0.96726	0.655000	0.94253	TCT	GLIS3	-	NULL		0.478	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	G	NM_152629		4125815	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	C
GLIS3	169792	genome.wustl.edu	37	9	4125836	4125836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:4125836G>T	ENST00000324333.10	-	2	222	c.29C>A	c.(28-30)tCa>tAa	p.S10*	GLIS3_ENST00000381971.3_Nonsense_Mutation_p.S165*	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	10					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGCTGGAGGTGAAATGAGTCC	0.512																																																	0													185.0	157.0	166.0					9																	4125836		2203	4300	6503	SO:0001587	stop_gained	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.29C>A	9.37:g.4125836G>T	ENSP00000325494:p.Ser10*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL19|Q1PHK5	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S165*	ENST00000324333.10	37	c.494	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.606145	0.97701	.	.	ENSG00000107249	ENST00000324333;ENST00000381971;ENST00000477901;ENST00000478844;ENST00000481827;ENST00000478315;ENST00000462164	.	.	.	5.65	5.65	0.86999	.	0.000000	0.43416	D	0.000569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.263	0.73640	0.0694:0.0:0.9306:0.0	.	.	.	.	X	10;165;165;10;165;10;10	.	ENSP00000325494:S10X	S	-	2	0	GLIS3	4115836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.242000	0.65389	2.811000	0.96726	0.655000	0.94253	TCA	GLIS3	-	NULL		0.512	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	G	NM_152629		4125836	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GLRX	2745	genome.wustl.edu	37	5	95158313	95158313	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:95158313G>A	ENST00000379979.4	-	1	105	c.54C>T	c.(52-54)ttC>ttT	p.F18F	GLRX_ENST00000505427.1_Silent_p.F18F|GLRX_ENST00000237858.6_Silent_p.F18F|GLRX_ENST00000512469.2_Silent_p.F18F|GLRX_ENST00000508780.1_Silent_p.F18F|GLRX_ENST00000507605.1_5'Flank	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	18	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TGGGCTTGATGAACACAACCA	0.537																																																	0													88.0	79.0	82.0					5																	95158313		2203	4300	6503	SO:0001819	synonymous_variant	2745				CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.54C>T	5.37:g.95158313G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4L2|Q3KQS1|Q6ICT1	Silent	SNP	pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.F18	ENST00000379979.4	37	c.54	CCDS4078.1	5																																																																																			GLRX	-	pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir		0.537	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GLRX	HGNC	protein_coding	OTTHUMT00000370267.1	G	NM_002064		95158313	-1	no_errors	ENST00000237858	ensembl	human	known	70_37	silent	SNP	1.000	A
GLS2	27165	genome.wustl.edu	37	12	56868639	56868639	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56868639G>C	ENST00000311966.4	-	11	1316	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	346					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CCTGGAAGTAGAGATCAAGGG	0.547																																																	0													120.0	110.0	113.0					12																	56868639		2203	4300	6503	SO:0001819	synonymous_variant	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1038C>G	12.37:g.56868639G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.L346	ENST00000311966.4	37	c.1038	CCDS8921.1	12																																																																																			GLS2	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase		0.547	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	G	NM_013267		56868639	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	silent	SNP	1.000	C
GLT1D1	144423	genome.wustl.edu	37	12	129360521	129360521	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:129360521G>C	ENST00000442111.2	+	2	219	c.131G>C	c.(130-132)cGa>cCa	p.R44P	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.R33P|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R44P			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	44					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488																																																	0													164.0	165.0	164.0					12																	129360521		2203	4300	6503	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.131G>C	12.37:g.129360521G>C	ENSP00000394692:p.Arg44Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.R44P	ENST00000442111.2	37	c.131		12	.	.	.	.	.	.	.	.	.	.	C	2.069	-0.413499	0.04799	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79554	-1.28;1.03;0.97	5.54	4.64	0.57946	.	0.426948	0.25817	N	0.028105	T	0.46698	0.1406	N	0.00289	-1.7	0.25293	N	0.989345	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41963	-0.9479	10	0.20519	T	0.43	-2.0878	10.9997	0.47598	0.1464:0.7132:0.1404:0.0	.	33;44	F5H088;Q96MS3-2	.;.	P	44;44;33	ENSP00000394692:R44P;ENSP00000281703:R44P;ENSP00000438158:R33P	ENSP00000281703:R44P	R	+	2	0	GLT1D1	127926474	0.036000	0.19791	0.041000	0.18516	0.186000	0.23388	1.054000	0.30455	0.680000	0.31366	-0.120000	0.15030	CGA	GLT1D1	-	NULL		0.488	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	G	NM_144669		129360521	+1	no_errors	ENST00000442111	ensembl	human	known	70_37	missense	SNP	0.090	C
GNA12	2768	genome.wustl.edu	37	7	2883556	2883556	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:2883556G>C	ENST00000275364.3	-	1	402	c.240C>G	c.(238-240)atC>atG	p.I80M	GNA12_ENST00000544127.1_Missense_Mutation_p.I4M	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	80					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CGCGGCCGTGGATGATGCGCA	0.687																																																	0													32.0	27.0	29.0					7																	2883556		2203	4300	6503	SO:0001583	missense	2768			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.240C>G	7.37:g.2883556G>C	ENSP00000275364:p.Ile80Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	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_alpha12	p.I80M	ENST00000275364.3	37	c.240	CCDS5335.1	7	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515516	0.27123	.	.	ENSG00000146535	ENST00000275364;ENST00000544127	D;D	0.89050	-2.46;-2.46	2.68	0.466	0.16716	G protein alpha subunit, helical insertion (1);	0.188956	0.44097	D	0.000495	D	0.94152	0.8124	M	0.90977	3.165	0.80722	D	1	P;D	0.54397	0.71;0.966	P;D	0.67900	0.642;0.954	D	0.93639	0.6963	10	0.87932	D	0	.	10.6037	0.45381	0.0:0.0:0.6591:0.3409	.	80;80	Q5PPR5;Q03113	.;GNA12_HUMAN	M	80;4	ENSP00000275364:I80M;ENSP00000437469:I4M	ENSP00000275364:I80M	I	-	3	3	GNA12	2850082	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	2.824000	0.48088	0.451000	0.26802	-0.534000	0.04291	ATC	GNA12	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.687	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	G	NM_007353		2883556	-1	no_errors	ENST00000275364	ensembl	human	known	70_37	missense	SNP	1.000	C
GNAQ	2776	genome.wustl.edu	37	9	80336364	80336364	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:80336364C>T	ENST00000286548.4	-	7	1177	c.955G>A	c.(955-957)Gac>Aac	p.D319N	GNAQ_ENST00000397476.3_Missense_Mutation_p.D117N	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	319					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTGTCACTGTCTGGGTTCAGG	0.512			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	0													144.0	127.0	133.0					9																	80336364		2203	4300	6503	SO:0001583	missense	2776				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.955G>A	9.37:g.80336364C>T	ENSP00000286548:p.Asp319Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	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,prints_Fungi_GproteinA	p.D319N	ENST00000286548.4	37	c.955	CCDS6658.1	9	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733228	0.69189	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.87650	-2.28;-2.28	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	N	0.25485	0.75	0.80722	D	1	B	0.11235	0.004	B	0.17433	0.018	T	0.75291	-0.3369	10	0.45353	T	0.12	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	319	P50148	GNAQ_HUMAN	N	319;117	ENSP00000286548:D319N;ENSP00000443197:D117N	ENSP00000286548:D319N	D	-	1	0	GNAQ	79526184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.857000	0.98124	0.650000	0.86243	GAC	GNAQ	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA		0.512	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1	C	NM_002072		80336364	-1	no_errors	ENST00000286548	ensembl	human	known	70_37	missense	SNP	1.000	T
GNB5	10681	genome.wustl.edu	37	15	52416673	52416673	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52416673G>T	ENST00000261837.7	-	12	1238	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L	CTD-2184D3.6_ENST00000559825.1_lincRNA|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Silent_p.L279L|GNB5_ENST00000358784.7_Silent_p.L349L	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	391					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTCTTACTCTGAGGGTATGAT	0.522																																																	0													78.0	81.0	80.0					15																	52416673		2195	4293	6488	SO:0001819	synonymous_variant	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.1173C>A	15.37:g.52416673G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.L391	ENST00000261837.7	37	c.1173	CCDS10149.1	15																																																																																			GNB5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.522	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	G			52416673	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	silent	SNP	0.094	T
GNG2	54331	genome.wustl.edu	37	14	52344355	52344355	+	5'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:52344355C>G	ENST00000556752.1	+	0	46				GNG2_ENST00000335281.4_Intron|GNG2_ENST00000555472.1_5'UTR|GNG2_ENST00000554736.1_5'UTR|GNG2_ENST00000557376.1_Intron|GNG2_ENST00000556766.1_5'UTR|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000553432.1_Intron	NM_001243773.1|NM_053064.4	NP_001230702.1|NP_444292.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	CAGTGAGCCTCAGGCTTTAGG	0.338																																																	0																																										SO:0001623	5_prime_UTR_variant	54331			AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000556752.1:c.-50C>G	14.37:g.52344355C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPE2|Q6P9A9	Missense_Mutation	SNP	NULL	p.Q29E	ENST00000556752.1	37	c.85	CCDS32082.1	14																																																																																			GNG2	-	NULL		0.338	GNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG2	HGNC	protein_coding	OTTHUMT00000411592.1	C			52344355	+1	no_errors	ENST00000556522	ensembl	human	known	70_37	missense	SNP	0.971	G
GNL2	29889	genome.wustl.edu	37	1	38041233	38041233	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:38041233G>C	ENST00000373062.3	-	10	1204	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	369					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GGAGTCCTCAGAGGGGTAAAC	0.473																																																	0													113.0	109.0	111.0					1																	38041233		2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1106C>G	1.37:g.38041233G>C	ENSP00000362153:p.Ser369Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.S369C	ENST00000373062.3	37	c.1106	CCDS421.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.018198|5.018198	0.93404|0.93404	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000538069|ENST00000373062	.|T	.|0.15487	.|2.42	5.73|5.73	5.73|5.73	0.89815|0.89815	.|GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58807|0.58807	0.2148|0.2148	H|H	0.95850|0.95850	3.73|3.73	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	T|T	0.72290|0.72290	-0.4337|-0.4337	5|10	.|0.87932	.|D	.|0	-14.6952|-14.6952	19.888|19.888	0.96917|0.96917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369	.|Q13823	.|NOG2_HUMAN	V|C	221|369	.|ENSP00000362153:S369C	.|ENSP00000362153:S369C	L|S	-|-	1|2	2|0	GNL2|GNL2	37813820|37813820	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.994000|0.994000	0.84299|0.84299	9.824000|9.824000	0.99380|0.99380	2.720000|2.720000	0.93068|0.93068	0.591000|0.591000	0.81541|0.81541	CTG|TCT	GNL2	-	pfam_GTP_binding_domain,prints_GTP_binding_domain		0.473	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	G	NM_013285		38041233	-1	no_errors	ENST00000373062	ensembl	human	known	70_37	missense	SNP	1.000	C
GNPTAB	79158	genome.wustl.edu	37	12	102183783	102183783	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:102183783C>T	ENST00000299314.7	-	3	518	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GNPTAB_ENST00000549940.1_Missense_Mutation_p.D86N|snoU13_ENST00000459085.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	86					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTTCAAGATCTGTGCCATTC	0.433																																																	0													226.0	201.0	209.0					12																	102183783		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.256G>A	12.37:g.102183783C>T	ENSP00000299314:p.Asp86Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.D86N	ENST00000299314.7	37	c.256	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.802342	0.96960	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.98987	-5.07;-5.3	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99636	1.0987	10	0.87932	D	0	-25.2806	20.2182	0.98305	0.0:1.0:0.0:0.0	.	86;86	Q3T906-2;Q3T906	.;GNPTA_HUMAN	N	86	ENSP00000299314:D86N;ENSP00000449150:D86N	ENSP00000299314:D86N	D	-	1	0	GNPTAB	100707914	1.000000	0.71417	0.768000	0.31515	0.958000	0.62258	7.412000	0.80091	2.785000	0.95823	0.655000	0.94253	GAT	GNPTAB	-	NULL		0.433	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102183783	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.999	T
GOLGA3	2802	genome.wustl.edu	37	12	133365775	133365775	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:133365775C>T	ENST00000450791.2	-	12	2832	c.2649G>A	c.(2647-2649)ctG>ctA	p.L883L	GOLGA3_ENST00000204726.3_Silent_p.L883L|GOLGA3_ENST00000537452.1_Silent_p.L883L|GOLGA3_ENST00000456883.2_Silent_p.L883L|GOLGA3_ENST00000545875.1_Silent_p.L883L			Q08378	GOGA3_HUMAN	golgin A3	883					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTCCTGCCGCAGCTCCTTCA	0.652																																																	0													51.0	46.0	48.0					12																	133365775		2203	4300	6503	SO:0001819	synonymous_variant	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2649G>A	12.37:g.133365775C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.L883	ENST00000450791.2	37	c.2649	CCDS9281.1	12																																																																																			GOLGA3	-	superfamily_Prefoldin		0.652	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133365775	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	silent	SNP	1.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133383849	133383849	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:133383849C>G	ENST00000450791.2	-	5	1387	c.1204G>C	c.(1204-1206)Gaa>Caa	p.E402Q	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E402Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E402Q|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E402Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E402Q			Q08378	GOGA3_HUMAN	golgin A3	402					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCTGTGTTTCTGCTGCAGAG	0.547																																																	0													61.0	40.0	47.0					12																	133383849		2202	4298	6500	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1204G>C	12.37:g.133383849C>G	ENSP00000410378:p.Glu402Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E402Q	ENST00000450791.2	37	c.1204	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736736	0.69304	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.33	5.33	0.75918	.	0.091723	0.85682	D	0.000000	D	0.83599	0.5289	L	0.57536	1.79	0.80722	D	1	D;D;D	0.65815	0.986;0.986;0.995	P;P;P	0.59703	0.709;0.709;0.862	T	0.79424	-0.1809	10	0.17832	T	0.49	.	19.0179	0.92901	0.0:1.0:0.0:0.0	.	402;402;402	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Q	402	ENSP00000204726:E402Q;ENSP00000410378:E402Q;ENSP00000409303:E402Q;ENSP00000442143:E402Q;ENSP00000442603:E402Q	ENSP00000204726:E402Q	E	-	1	0	GOLGA3	131893922	1.000000	0.71417	0.018000	0.16275	0.009000	0.06853	7.430000	0.80321	2.496000	0.84212	0.561000	0.74099	GAA	GOLGA3	-	NULL		0.547	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133383849	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	0.985	G
GOLGA4	2803	genome.wustl.edu	37	3	37366456	37366456	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:37366456G>C	ENST00000361924.2	+	14	3453	c.3079G>C	c.(3079-3081)Gaa>Caa	p.E1027Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1049Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1027	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAACCAAAAAGAACAAATAGA	0.388																																																	0													59.0	60.0	60.0					3																	37366456		2202	4297	6499	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3079G>C	3.37:g.37366456G>C	ENSP00000354486:p.Glu1027Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.E1027Q	ENST00000361924.2	37	c.3079	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577964	0.45902	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.33438	1.41;1.43;1.44	5.43	4.54	0.55810	.	0.218701	0.23310	N	0.049572	T	0.33760	0.0874	L	0.31752	0.955	0.43642	D	0.996041	D;P;P;B	0.60575	0.988;0.923;0.923;0.251	P;P;B;B	0.51806	0.68;0.548;0.397;0.065	T	0.04203	-1.0969	10	0.35671	T	0.21	.	15.8217	0.78654	0.0:0.1409:0.8591:0.0	.	1027;1027;1049;1027	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	Q	1027;1049;898	ENSP00000354486:E1027Q;ENSP00000349305:E1049Q;ENSP00000405842:E898Q	ENSP00000349305:E1049Q	E	+	1	0	GOLGA4	37341460	1.000000	0.71417	0.998000	0.56505	0.730000	0.41778	6.300000	0.72776	1.262000	0.44165	0.561000	0.74099	GAA	GOLGA4	-	NULL		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37366456	+1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	1.000	C
GOLGA8H	728498	genome.wustl.edu	37	15	30902077	30902077	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:30902077G>A	ENST00000566740.1	+	9	660	c.660G>A	c.(658-660)ctG>ctA	p.L220L	RN7SL628P_ENST00000473920.2_RNA|RP11-932O9.8_ENST00000602595.1_RNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H	220						Golgi apparatus (GO:0005794)											AGGCACTACTGAAAGTGCAGC	0.547																																																	0																																										SO:0001819	synonymous_variant	728498				CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.660G>A	15.37:g.30902077G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L220	ENST00000566740.1	37	c.660		15																																																																																			GOLGA8H	-	NULL		0.547	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8H	HGNC	protein_coding	OTTHUMT00000430724.1	G	XM_001724395		30902077	+1	no_errors	ENST00000566740	ensembl	human	novel	70_37	silent	SNP	0.009	A
GOLGB1	2804	genome.wustl.edu	37	3	121417372	121417372	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121417372C>G	ENST00000340645.5	-	13	2108	c.1983G>C	c.(1981-1983)ttG>ttC	p.L661F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L666F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	661					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGTTGATTTCAATTCTACTC	0.388																																																	0													91.0	93.0	92.0					3																	121417372		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1983G>C	3.37:g.121417372C>G	ENSP00000341848:p.Leu661Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L661F	ENST00000340645.5	37	c.1983	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.581|3.581	-0.085517|-0.085517	0.07097|0.07097	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.28895|.	2.2;2.19;1.59|.	4.95|4.95	-4.6|-4.6	0.03390|0.03390	.|.	1.106060|.	0.06995|.	N|.	0.822250|.	T|.	0.37237|.	0.0996|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P;P;P;P;P|.	0.50617|.	0.773;0.937;0.773;0.937;0.773|.	B;P;B;P;B|.	0.55508|.	0.277;0.777;0.369;0.679;0.277|.	T|.	0.43048|.	-0.9415|.	10|.	0.21540|.	T|.	0.41|.	.|.	5.0708|5.0708	0.14606|0.14606	0.209:0.4153:0.0:0.3757|0.209:0.4153:0.0:0.3757	.|.	586;625;666;666;661|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	F|S	661;666;625;473|532	ENSP00000341848:L661F;ENSP00000377275:L666F;ENSP00000418231:L625F|.	ENSP00000341848:L661F|.	L|X	-|-	3|2	2|2	GOLGB1|GOLGB1	122900062|122900062	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.090000|0.090000	0.18270|0.18270	-0.261000|-0.261000	0.08694|0.08694	-0.771000|-0.771000	0.04608|0.04608	-0.140000|-0.140000	0.14226|0.14226	TTG|TGA	GOLGB1	-	NULL		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121417372	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.003	G
GOLGB1	2804	genome.wustl.edu	37	3	121449758	121449758	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121449758C>T	ENST00000340645.5	-	2	186	c.61G>A	c.(61-63)Gac>Aac	p.D21N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D21N|GOLGB1_ENST00000472829.1_5'Flank	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	21				Missing (in Ref. 3; BAA05025). {ECO:0000305}.	Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATCAGTGTCATCATCTCCT	0.388																																																	0													189.0	190.0	189.0					3																	121449758		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.61G>A	3.37:g.121449758C>T	ENSP00000341848:p.Asp21Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.D21N	ENST00000340645.5	37	c.61	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.472350	0.01044	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000472475	T;T;T	0.24350	2.46;2.45;1.86	0.361	-0.665	0.11403	.	0.323108	0.26149	N	0.026057	T	0.08980	0.0222	N	0.08118	0	0.20196	N	0.99992	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.004	T	0.27365	-1.0076	9	0.17832	T	0.49	.	.	.	.	.	21;21;21	E7EU81;E7EP74;Q14789	.;.;GOGB1_HUMAN	N	21	ENSP00000341848:D21N;ENSP00000377275:D21N;ENSP00000418231:D21N	ENSP00000341848:D21N	D	-	1	0	GOLGB1	122932448	0.999000	0.42202	0.948000	0.38648	0.049000	0.14656	1.654000	0.37334	-0.487000	0.06735	-0.474000	0.04947	GAC	GOLGB1	-	NULL		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121449758	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.977	T
GOLT1B	51026	genome.wustl.edu	37	12	21668697	21668697	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:21668697G>C	ENST00000229314.5	+	0	582				GOLT1B_ENST00000542038.1_3'UTR|GOLT1B_ENST00000540141.1_3'UTR|GOLT1B_ENST00000535593.1_3'UTR	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						AAAGTCATTTGAAGAATATTC	0.284																																																	0													48.0	41.0	43.0					12																	21668697		692	1572	2264	SO:0001624	3_prime_UTR_variant	51026			AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"""golgi transport 1 homolog B (S. cerevisiae)"""			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.*56G>C	12.37:g.21668697G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4R4|Q54A40|Q6I9W6|Q9P1R9	RNA	SNP	-	NULL	ENST00000229314.5	37	NULL	CCDS8689.1	12																																																																																			GOLT1B	-	-		0.284	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLT1B	HGNC	protein_coding	OTTHUMT00000402384.2	G	NM_016072		21668697	+1	no_errors	ENST00000535593	ensembl	human	known	70_37	rna	SNP	1.000	C
GORASP2	26003	genome.wustl.edu	37	2	171786399	171786399	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:171786399G>C	ENST00000234160.4	+	1	878				GORASP2_ENST00000493692.1_Intron|GORASP2_ENST00000452526.2_Intron	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa						mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGCGCCGGCCGAGTGGCCTGA	0.587																																																	0																																										SO:0001627	intron_variant	26003				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.63+486G>C	2.37:g.171786399G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	NULL	p.R71P	ENST00000234160.4	37	c.212	CCDS33325.1	2																																																																																			GORASP2	-	NULL		0.587	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP2	HGNC	protein_coding	OTTHUMT00000333719.2	G			171786399	+1	no_errors	ENST00000454751	ensembl	human	known	70_37	missense	SNP	0.000	C
GPANK1	7918	genome.wustl.edu	37	6	31631984	31631984	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31631984C>T	ENST00000375906.1	-	3	956	c.272G>A	c.(271-273)aGa>aAa	p.R91K	CSNK2B_ENST00000375866.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|GPANK1_ENST00000375900.4_Missense_Mutation_p.R91K|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.R91K|GPANK1_ENST00000375896.4_Missense_Mutation_p.R91K|CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375895.2_Missense_Mutation_p.R91K	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	91							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TTGTCCATGTCTTCCTGATGC	0.517																																																	0													121.0	109.0	113.0					6																	31631984		2203	4300	6503	SO:0001583	missense	7918				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.272G>A	6.37:g.31631984C>T	ENSP00000365071:p.Arg91Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom	p.R91K	ENST00000375906.1	37	c.272	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164188	0.01673	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842;ENST00000458083;ENST00000445768;ENST00000432291	T;T;T;T;T;T;T	0.29142	3.15;3.15;3.15;3.15;3.15;1.58;1.58	3.81	1.97	0.26223	.	1.001520	0.08051	N	0.996715	T	0.03390	0.0098	N	0.08118	0	0.09310	N	0.999999	B	0.17038	0.02	B	0.17433	0.018	T	0.42766	-0.9432	10	0.05959	T	0.93	-7.6407	5.3839	0.16208	0.1969:0.6921:0.0:0.111	.	91	O95872	GPAN1_HUMAN	K	91	ENSP00000365071:R91K;ENSP00000365060:R91K;ENSP00000365057:R91K;ENSP00000365059:R91K;ENSP00000365065:R91K;ENSP00000395307:R91K;ENSP00000409349:R91K	ENSP00000365057:R91K	R	-	2	0	GPANK1	31739963	0.271000	0.24162	0.226000	0.23910	0.175000	0.22909	0.675000	0.25232	0.349000	0.23975	0.561000	0.74099	AGA	GPANK1	-	NULL		0.517	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	HGNC	protein_coding	OTTHUMT00000144445.2	C	NM_033177		31631984	-1	no_errors	ENST00000375893	ensembl	human	known	70_37	missense	SNP	0.505	T
GPATCH2	55105	genome.wustl.edu	37	1	217688174	217688174	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:217688174G>T	ENST00000366935.3	-	6	1266	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	386					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCATGGTGATGAGAATCCGGG	0.353																																																	0													44.0	45.0	45.0					1																	217688174		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1156C>A	1.37:g.217688174G>T	ENSP00000355902:p.His386Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.H386N	ENST00000366935.3	37	c.1156	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317069	0.60524	.	.	ENSG00000092978	ENST00000366935	T	0.31510	1.49	5.95	5.95	0.96441	.	0.047302	0.85682	D	0.000000	T	0.41994	0.1183	M	0.63428	1.95	0.80722	D	1	D	0.53619	0.961	P	0.48270	0.572	T	0.06770	-1.0808	10	0.21540	T	0.41	-21.8907	20.4024	0.99000	0.0:0.0:1.0:0.0	.	386	Q9NW75	GPTC2_HUMAN	N	386	ENSP00000355902:H386N	ENSP00000355902:H386N	H	-	1	0	GPATCH2	215754797	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.052000	0.76634	2.827000	0.97445	0.650000	0.86243	CAT	GPATCH2	-	NULL		0.353	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	G	NM_018040		217688174	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	missense	SNP	1.000	T
GPATCH2	55105	genome.wustl.edu	37	1	217688182	217688182	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:217688182G>A	ENST00000366935.3	-	6	1258	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	383					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		ATGAGAATCCGGGGAAAAATG	0.348																																																	0													46.0	46.0	46.0					1																	217688182		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1148C>T	1.37:g.217688182G>A	ENSP00000355902:p.Pro383Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.P383L	ENST00000366935.3	37	c.1148	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964408	0.53507	.	.	ENSG00000092978	ENST00000366935	T	0.31247	1.5	5.95	5.95	0.96441	.	0.106321	0.64402	D	0.000003	T	0.27629	0.0679	L	0.51422	1.61	0.80722	D	1	D	0.52996	0.957	B	0.39068	0.289	T	0.02933	-1.1092	10	0.25106	T	0.35	-25.4565	15.0324	0.71717	0.0:0.0:0.8247:0.1753	.	383	Q9NW75	GPTC2_HUMAN	L	383	ENSP00000355902:P383L	ENSP00000355902:P383L	P	-	2	0	GPATCH2	215754805	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	3.689000	0.54706	2.827000	0.97445	0.650000	0.86243	CCG	GPATCH2	-	NULL		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	G	NM_018040		217688182	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	missense	SNP	0.991	A
GPATCH8	23131	genome.wustl.edu	37	17	42478508	42478508	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42478508C>T	ENST00000591680.1	-	8	967	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.E235K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	313							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTATTGATTCGAGTTTGACA	0.458											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													165.0	180.0	175.0					17																	42478508		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.937G>A	17.37:g.42478508C>T	ENSP00000467556:p.Glu313Lys	Somatic	909	WXS	Illumina HiSeq	Phase_IV	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.E313K	ENST00000591680.1	37	c.937	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790752	0.70452	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.27557	1.66	5.65	5.65	0.86999	.	0.053566	0.64402	D	0.000001	T	0.53753	0.1816	M	0.73598	2.24	0.58432	D	0.999999	D	0.71674	0.998	P	0.57679	0.825	T	0.56786	-0.7921	10	0.72032	D	0.01	-20.115	19.724	0.96154	0.0:1.0:0.0:0.0	.	313	Q9UKJ3	GPTC8_HUMAN	K	313;235	ENSP00000395016:E235K	ENSP00000335486:E313K	E	-	1	0	GPATCH8	39834034	1.000000	0.71417	0.939000	0.37840	0.934000	0.57294	7.625000	0.83145	2.654000	0.90174	0.557000	0.71058	GAA	GPATCH8	-	NULL		0.458	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	C	NM_001002909		42478508	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	missense	SNP	1.000	T
GPBP1L1	60313	genome.wustl.edu	37	1	46124624	46124624	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46124624G>C	ENST00000290795.3	-	3	1282				GPBP1L1_ENST00000355105.3_Intron			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1						positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					aaaacaaaatgaaaccaaaaa	0.478																																																	0																																										SO:0001627	intron_variant	60313				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.60+75C>G	1.37:g.46124624G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ10|Q9H751	RNA	SNP	-	NULL	ENST00000290795.3	37	NULL	CCDS528.1	1																																																																																			GPBP1L1	-	-		0.478	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1	G	NM_021639		46124624	-1	no_errors	ENST00000495616	ensembl	human	known	70_37	rna	SNP	0.000	C
GPC1	2817	genome.wustl.edu	37	2	241404942	241404942	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:241404942G>A	ENST00000264039.2	+	8	1569	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	441					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAACAACCCCGAGGTGGAGGT	0.622																																																	0													109.0	90.0	96.0					2																	241404942		2203	4300	6503	SO:0001583	missense	2817			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1321G>A	2.37:g.241404942G>A	ENSP00000264039:p.Glu441Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTD1|Q53QM4	Missense_Mutation	SNP	pfam_Glypican	p.E441K	ENST00000264039.2	37	c.1321	CCDS2534.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.644268|4.644268	0.87859|0.87859	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000264039|ENST00000420138;ENST00000455111	T|.	0.64991|.	-0.13|.	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.80396|0.80396	0.4615|0.4615	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84996|0.84996	0.0897|0.0897	10|5	0.87932|.	D|.	0|.	-26.2632|-26.2632	12.9948|12.9948	0.58640|0.58640	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	441|.	P35052|.	GPC1_HUMAN|.	K|Q	441|480;192	ENSP00000264039:E441K|.	ENSP00000264039:E441K|.	E|R	+|+	1|2	0|0	GPC1|GPC1	241053615|241053615	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.950000|0.950000	0.60333|0.60333	7.481000|7.481000	0.81124|0.81124	1.704000|1.704000	0.51252|0.51252	0.551000|0.551000	0.68910|0.68910	GAG|CGA	GPC1	-	pfam_Glypican		0.622	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	HGNC	protein_coding	OTTHUMT00000257179.3	G	NM_002081		241404942	+1	no_errors	ENST00000264039	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR110	266977	genome.wustl.edu	37	6	46988506	46988506	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:46988506C>G	ENST00000371253.2	-	7	787	c.572G>C	c.(571-573)aGa>aCa	p.R191T	GPR110_ENST00000371243.2_Missense_Mutation_p.R191T|GPR110_ENST00000283297.5_5'Flank|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	191	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R191I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGAATTCTTTCATATGC	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											91.0	86.0	88.0					6																	46988506		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.572G>C	6.37:g.46988506C>G	ENSP00000360299:p.Arg191Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.R191T	ENST00000371253.2	37	c.572	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731499	0.15507	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T;T	0.33438	1.41;1.41	5.12	1.22	0.21188	SEA (1);	0.681363	0.13437	N	0.388007	T	0.05731	0.0150	L	0.31926	0.97	0.09310	N	1	P;B	0.37276	0.589;0.273	B;B	0.35813	0.211;0.134	T	0.34775	-0.9815	10	0.12430	T	0.62	0.1548	4.0256	0.09685	0.1623:0.5673:0.0:0.2704	.	191;191	Q5T601-2;Q5T601	.;GP110_HUMAN	T	191	ENSP00000360299:R191T;ENSP00000360289:R191T	ENSP00000360289:R191T	R	-	2	0	GPR110	47096465	0.010000	0.17322	0.009000	0.14445	0.729000	0.41735	0.216000	0.17585	-0.079000	0.12707	-0.150000	0.13652	AGA	GPR110	-	pfam_SEA		0.388	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	C	NM_153840		46988506	-1	no_errors	ENST00000371253	ensembl	human	known	70_37	missense	SNP	0.006	G
GPR111	222611	genome.wustl.edu	37	6	47650137	47650137	+	Silent	SNP	C	C	T	rs200862951		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:47650137C>T	ENST00000296862.1	+	6	1842	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	GPR111_ENST00000507065.1_Silent_p.I546I|GPR111_ENST00000398742.2_Silent_p.I546I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	614					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTTGGCCATCGTGGTAGTAA	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22520	0.0		0.0	False		,,,				2504	0.0																0								C		2,4114		0,2,2056	57.0	58.0	58.0		1638	-7.7	0.8	6		58	9,8403		0,9,4197	no	coding-synonymous	GPR111	NM_153839.6		0,11,6253	TT,TC,CC		0.107,0.0486,0.0878		546/643	47650137	11,12517	2058	4206	6264	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1842C>T	6.37:g.47650137C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I614	ENST00000296862.1	37	c.1842		6																																																																																			GPR111	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.527	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	C	NM_153839		47650137	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.775	T
GPR113	165082	genome.wustl.edu	37	2	26532840	26532840	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:26532840G>A	ENST00000311519.1	-	13	3211	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000459892.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1071					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTCCTCTGAGGAGGGCCA	0.552																																																	0													44.0	45.0	45.0					2																	26532840		692	1591	2283	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3212C>T	2.37:g.26532840G>A	ENSP00000307831:p.Ser1071Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1071L	ENST00000311519.1	37	c.3212	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841198	0.51057	.	.	ENSG00000173567	ENST00000311519	T	0.29917	1.55	5.45	-1.01	0.10169	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.44086	T	0.13	.	3.5943	0.08000	0.1527:0.3642:0.3666:0.1165	.	1071	Q8IZF5	GP113_HUMAN	L	1071	ENSP00000307831:S1071L	ENSP00000307831:S1071L	S	-	2	0	GPR113	26386344	0.000000	0.05858	0.000000	0.03702	0.475000	0.33008	-1.231000	0.02939	-0.292000	0.08999	0.655000	0.94253	TCA	GPR113	-	NULL		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26532840	-1	no_errors	ENST00000311519	ensembl	human	putative	70_37	missense	SNP	0.000	A
GPR113	165082	genome.wustl.edu	37	2	26532887	26532887	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:26532887G>A	ENST00000311519.1	-	13	3164	c.3165C>T	c.(3163-3165)ctC>ctT	p.L1055L	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000459892.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1055					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCACAGCTGAGGATCTGAA	0.552																																																	0													72.0	70.0	70.0					2																	26532887		2203	4300	6503	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3165C>T	2.37:g.26532887G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L1055	ENST00000311519.1	37	c.3165	CCDS46239.1	2																																																																																			GPR113	-	NULL		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26532887	-1	no_errors	ENST00000311519	ensembl	human	putative	70_37	silent	SNP	0.001	A
ADGRG5	221188	genome.wustl.edu	37	16	57624556	57624556	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:57624556G>A								GPR114 (13449 upstream) : GPR56 (29093 downstream)																							TAAGAAGAGTGATGATACCAC	0.478																																																	0																																										SO:0001628	intergenic_variant	221188																															16.37:g.57624556G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		16	.	.	.	.	.	.	.	.	.	.	G	7.925	0.739517	0.15642	.	.	ENSG00000159618	ENST00000349457	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.19945	N	0.999941	.	.	.	.	.	.	T	0.31223	-0.9951	5	0.54805	T	0.06	.	6.5563	0.22462	0.0:0.0:1.0:0.0	.	.	.	.	N	507	.	ENSP00000290823:D507N	D	+	1	0	GPR114	56182057	0.012000	0.17670	0.059000	0.19551	0.247000	0.25773	0.588000	0.23924	1.212000	0.43366	0.473000	0.43528	GAT	GPR114	-	-	0	0.478					GPR114	HGNC			G			57624556	+1	no_errors	ENST00000569839	ensembl	human	known	70_37	rna	SNP	0.057	A
GPR179	440435	genome.wustl.edu	37	17	36499245	36499245	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:36499245C>T	ENST00000342292.4	-	1	448	c.428G>A	c.(427-429)aGa>aAa	p.R143K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	143					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGTACACTCTTGGGTCCCC	0.622																																																	0													51.0	54.0	53.0					17																	36499245		2105	4219	6324	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.428G>A	17.37:g.36499245C>T	ENSP00000345060:p.Arg143Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.R143K	ENST00000342292.4	37	c.428	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143486	0.01728	.	.	ENSG00000188888	ENST00000342292	T	0.77750	-1.12	5.67	-0.0876	0.13677	.	0.466449	0.22036	N	0.065531	T	0.53433	0.1796	N	0.17082	0.46	0.09310	N	1	B	0.22276	0.067	B	0.12156	0.007	T	0.30679	-0.9970	10	0.17832	T	0.49	-11.7207	5.4437	0.16523	0.0:0.3685:0.1455:0.486	.	143	Q6PRD1	GP179_HUMAN	K	143	ENSP00000345060:R143K	ENSP00000345060:R143K	R	-	2	0	GPR179	33752771	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-0.150000	0.10189	0.128000	0.18479	-0.140000	0.14226	AGA	GPR179	-	NULL		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36499245	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.000	T
GPR64	10149	genome.wustl.edu	37	X	19021127	19021127	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:19021127C>G	ENST00000379869.3	-	24	2230	c.2067G>C	c.(2065-2067)aaG>aaC	p.K689N	GPR64_ENST00000356606.4_Missense_Mutation_p.K675N|GPR64_ENST00000340581.3_Missense_Mutation_p.K570N|GPR64_ENST00000354791.3_Missense_Mutation_p.K673N|GPR64_ENST00000357544.3_Missense_Mutation_p.K659N|GPR64_ENST00000379876.1_Missense_Mutation_p.K665N|GPR64_ENST00000379873.2_Missense_Mutation_p.K689N|GPR64_ENST00000357991.3_Missense_Mutation_p.K686N|GPR64_ENST00000360279.4_Missense_Mutation_p.K667N|GPR64_ENST00000379878.3_Missense_Mutation_p.K673N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	689					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGCCTTGCATCTTATACAGAG	0.493																																																	0													87.0	79.0	82.0					X																	19021127		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2067G>C	X.37:g.19021127C>G	ENSP00000369198:p.Lys689Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K689N	ENST00000379869.3	37	c.2067	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.230970	0.01518	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.36	1.42	0.22433	GPCR, family 2-like (1);	0.479462	0.18667	N	0.134556	T	0.11024	0.0269	N	0.02181	-0.65	0.20638	N	0.999878	B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.11329	0.006;0.001;0.002;0.001;0.001;0.001;0.001;0.001;0.001;0.002;0.002	T	0.27054	-1.0085	10	0.02654	T	1	.	1.2871	0.02052	0.228:0.1322:0.4068:0.233	.	570;651;659;665;673;689;667;675;686;689;673	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	N	689;673;673;665;659;689;667;686;675;570	ENSP00000369202:K689N;ENSP00000369207:K673N;ENSP00000346845:K673N;ENSP00000369205:K665N;ENSP00000350152:K659N;ENSP00000369198:K689N;ENSP00000353421:K667N;ENSP00000350680:K686N;ENSP00000349015:K675N;ENSP00000344972:K570N	ENSP00000344972:K570N	K	-	3	2	GPR64	18931048	0.031000	0.19500	0.010000	0.14722	0.837000	0.47467	0.266000	0.18534	0.079000	0.16929	0.544000	0.68410	AAG	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.493	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19021127	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	0.279	G
GPR98	84059	genome.wustl.edu	37	5	89985822	89985822	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:89985822G>A	ENST00000405460.2	+	30	6731	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2212					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAACAGGAGGAGCCAGACTA	0.403																																																	0													55.0	53.0	53.0					5																	89985822		1842	4083	5925	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6635G>A	5.37:g.89985822G>A	ENSP00000384582:p.Gly2212Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G2212E	ENST00000405460.2	37	c.6635	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728835	0.89390	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34275	1.37	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66300	-0.5958	10	0.56958	D	0.05	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2212	Q8WXG9	GPR98_HUMAN	E	2212	ENSP00000384582:G2212E	ENSP00000296619:G2212E	G	+	2	0	GPR98	90021578	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.538000	0.98072	2.501000	0.84356	0.650000	0.86243	GGA	GPR98	-	NULL		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89985822	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90101239	90101239	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:90101239G>A	ENST00000405460.2	+	72	14896	c.14800G>A	c.(14800-14802)Gaa>Aaa	p.E4934K	GPR98_ENST00000425867.2_Missense_Mutation_p.E595K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4934					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAATTCCTGAATTCATTGT	0.458																																																	0													106.0	99.0	101.0					5																	90101239		1861	4101	5962	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14800G>A	5.37:g.90101239G>A	ENSP00000384582:p.Glu4934Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4934K	ENST00000405460.2	37	c.14800	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308196	0.40895	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29397	1.57;1.65	5.8	4.93	0.64822	.	0.439108	0.28214	N	0.016177	T	0.33702	0.0872	L	0.56769	1.78	0.31489	N	0.666179	P;P;P	0.52842	0.908;0.956;0.944	B;B;P	0.44561	0.265;0.366;0.453	T	0.45614	-0.9249	9	.	.	.	.	12.7735	0.57434	0.0766:0.0:0.9234:0.0	.	595;4934;595	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	K	4934;4934;595	ENSP00000384582:E4934K;ENSP00000392618:E595K	.	E	+	1	0	GPR98	90136995	1.000000	0.71417	0.024000	0.17045	0.706000	0.40770	3.880000	0.56145	1.439000	0.47511	0.561000	0.74099	GAA	GPR98	-	NULL		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90101239	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.623	A
GPRIN3	285513	genome.wustl.edu	37	4	90170445	90170445	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:90170445C>G	ENST00000609438.1	-	2	1335	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E273Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	273										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCCGAAGGTTCGCTAGTGAGG	0.562																																																	0													75.0	79.0	78.0					4																	90170445		2203	4300	6503	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.817G>C	4.37:g.90170445C>G	ENSP00000476603:p.Glu273Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVE4	Missense_Mutation	SNP	NULL	p.E273Q	ENST00000609438.1	37	c.817	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566519	0.13560	.	.	ENSG00000185477	ENST00000333209	T	0.09723	2.95	5.64	-11.3	0.00108	.	1.647680	0.03996	N	0.295687	T	0.03390	0.0098	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.30765	-0.9967	10	0.13108	T	0.6	3.472	11.2018	0.48745	0.0:0.2222:0.232:0.5458	.	273	Q6ZVF9	GRIN3_HUMAN	Q	273	ENSP00000328672:E273Q	ENSP00000328672:E273Q	E	-	1	0	GPRIN3	90389468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.396000	0.01052	-2.912000	0.00307	-0.769000	0.03391	GAA	GPRIN3	-	NULL		0.562	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90170445	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	missense	SNP	0.000	G
GRB14	2888	genome.wustl.edu	37	2	165353988	165353988	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:165353988C>T	ENST00000263915.3	-	10	1655	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	GRB14_ENST00000543549.1_Missense_Mutation_p.E286K|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	373					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGGAATTCTCTGATATACTT	0.358																																																	0													72.0	73.0	73.0					2																	165353988		2203	4300	6503	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1117G>A	2.37:g.165353988C>T	ENSP00000263915:p.Glu373Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E373K	ENST00000263915.3	37	c.1117	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.335129	0.95758	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.32023	1.86;1.9;1.47	5.71	5.71	0.89125	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.57536	1.79	0.80722	D	1	D;P	0.56035	0.974;0.771	P;B	0.55222	0.771;0.444	T	0.37731	-0.9693	10	0.52906	T	0.07	-17.1247	19.8625	0.96789	0.0:1.0:0.0:0.0	.	286;373	B7Z7F9;Q14449	.;GRB14_HUMAN	K	373;286;328	ENSP00000263915:E373K;ENSP00000443699:E286K;ENSP00000416786:E328K	ENSP00000263915:E373K	E	-	1	0	GRB14	165062234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.797000	0.85911	2.689000	0.91719	0.655000	0.94253	GAG	GRB14	-	pfam_BPS-dom		0.358	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	C			165353988	-1	no_errors	ENST00000263915	ensembl	human	known	70_37	missense	SNP	1.000	T
GREB1L	80000	genome.wustl.edu	37	18	19053101	19053101	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:19053101G>A	ENST00000580732.2	+	16	2673	c.2292G>A	c.(2290-2292)atG>atA	p.M764I	GREB1L_ENST00000400483.4_Intron|GREB1L_ENST00000424526.1_Missense_Mutation_p.M764I|GREB1L_ENST00000269218.6_Missense_Mutation_p.M655I			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	764						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						AAGTTTTTATGAGGAGAGTGA	0.428																																																	0													159.0	144.0	148.0					18																	19053101		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.2292G>A	18.37:g.19053101G>A	ENSP00000464162:p.Met764Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.M764I	ENST00000580732.2	37	c.2292	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353260	0.82132	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.06068	3.35;3.35	6.08	6.08	0.98989	.	.	.	.	.	T	0.20047	0.0482	L	0.48362	1.52	0.80722	D	1	D;D	0.58268	0.982;0.982	D;D	0.68943	0.961;0.961	T	0.00496	-1.1705	9	0.24483	T	0.36	-1.7653	20.6647	0.99678	0.0:0.0:1.0:0.0	.	655;764	Q9C091-3;Q9C091	.;GRB1L_HUMAN	I	764;655	ENSP00000412060:M764I;ENSP00000269218:M655I	ENSP00000269218:M655I	M	+	3	0	GREB1L	17307099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.974000	0.88039	2.890000	0.99128	0.655000	0.94253	ATG	GREB1L	-	NULL		0.428	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	G	NM_024935		19053101	+1	no_errors	ENST00000424526	ensembl	human	known	70_37	missense	SNP	1.000	A
GRIN2A	2903	genome.wustl.edu	37	16	9858728	9858728	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:9858728C>T	ENST00000396573.2	-	14	2982	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	GRIN2A_ENST00000535259.1_Silent_p.Q734Q|GRIN2A_ENST00000404927.2_Silent_p.Q891Q|GRIN2A_ENST00000330684.3_Silent_p.Q891Q|GRIN2A_ENST00000562109.1_Silent_p.Q891Q|GRIN2A_ENST00000396575.2_Silent_p.Q891Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	891					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACATGTTGCTCTGGGATCCCG	0.463																																																	0													179.0	163.0	168.0					16																	9858728		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2673G>A	16.37:g.9858728C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q891	ENST00000396573.2	37	c.2673	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9858728	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIP1	23426	genome.wustl.edu	37	12	66786232	66786232	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:66786232C>T	ENST00000398016.3	-	18	2232	c.2164G>A	c.(2164-2166)Gac>Aac	p.D722N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D774N|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.D774N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCCCCAGGTCACTCAAATGG	0.498																																																	0													131.0	129.0	129.0					12																	66786232		1942	4150	6092	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2164G>A	12.37:g.66786232C>T	ENSP00000381098:p.Asp722Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D774N	ENST00000398016.3	37	c.2320	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182779	0.38511	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.19532	2.15;2.14;2.14;2.14;2.2;2.21	4.83	4.83	0.62350	.	0.306795	0.39909	N	0.001230	T	0.15609	0.0376	N	0.19112	0.55	0.43874	D	0.996484	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.10450	0.005;0.0;0.003;0.004	T	0.07908	-1.0748	9	.	.	.	-14.3596	18.4992	0.90875	0.0:1.0:0.0:0.0	.	722;774;722;774	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	N	722;774;774;722;666;614	ENSP00000381098:D722N;ENSP00000352780:D774N;ENSP00000286445:D774N;ENSP00000446047:D722N;ENSP00000446024:D666N;ENSP00000446011:D614N	.	D	-	1	0	GRIP1	65072499	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	4.474000	0.60203	2.691000	0.91804	0.561000	0.74099	GAC	GRIP1	-	NULL		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66786232	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T
GTF2I	2969	genome.wustl.edu	37	7	74157852	74157852	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:74157852G>C	ENST00000324896.4	+	20	2132	c.1743G>C	c.(1741-1743)ttG>ttC	p.L581F	GTF2I_ENST00000416070.1_Missense_Mutation_p.L540F|GTF2I_ENST00000346152.4_Missense_Mutation_p.L560F|GTF2I_ENST00000353920.4_Missense_Mutation_p.L561F	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	581					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTTAATTTGAAATTTGGTA	0.363																																																	0													1.0	1.0	1.0					7																	74157852		590	851	1441	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1743G>C	7.37:g.74157852G>C	ENSP00000322542:p.Leu581Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L581F	ENST00000324896.4	37	c.1743	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967391	0.34754	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.03	5.03	0.67393	.	0.226358	0.31061	N	0.008331	T	0.28366	0.0701	N	0.04203	-0.255	0.80722	D	1	P;B;P;P;P	0.52577	0.934;0.003;0.944;0.815;0.954	P;B;P;P;P	0.52909	0.713;0.003;0.553;0.494;0.681	T	0.07065	-1.0792	10	0.10902	T	0.67	-14.8791	10.9703	0.47436	0.0858:0.0:0.9142:0.0	.	559;540;561;560;581	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	F	581;576;561;560;540	ENSP00000322542:L581F;ENSP00000322671:L561F;ENSP00000322599:L560F;ENSP00000387651:L540F	ENSP00000322542:L581F	L	+	3	2	GTF2I	73795788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.108000	0.50337	2.365000	0.80145	0.545000	0.68477	TTG	GTF2I	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.363	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	G	NM_032999		74157852	+1	no_errors	ENST00000324896	ensembl	human	known	70_37	missense	SNP	1.000	C
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72658866	72658866	+	RNA	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:72658866G>T	ENST00000425256.1	-	0	1045									GTF2I repeat domain containing 2 pseudogene 1																		cacttttcttgaaacacacgg	0.393																																																	0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658866G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-		0.393	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	G	NR_002164		72658866	-1	no_errors	ENST00000425256	ensembl	human	known	70_37	rna	SNP	1.000	T
GTF2IRD1	9569	genome.wustl.edu	37	7	74005296	74005296	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:74005296G>T	ENST00000265755.3	+	24	2979	c.2586G>T	c.(2584-2586)aaG>aaT	p.K862N	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.K847N|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.K879N|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.K847N	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	862					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGGAGAAGATCCTGAAGG	0.617																																																	0													81.0	72.0	75.0					7																	74005296		2203	4300	6503	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2586G>T	7.37:g.74005296G>T	ENSP00000265755:p.Lys862Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K862N	ENST00000265755.3	37	c.2586	CCDS5571.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.223671|3.223671	0.58668|0.58668	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.|T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.052925	.|0.64402	.|D	.|0.000001	T|T	0.56949|0.56949	0.2020|0.2020	L|L	0.31926|0.31926	0.97|0.97	0.54753|0.54753	D|D	0.99998|0.99998	.|P;D;B;B	.|0.56287	.|0.889;0.975;0.02;0.007	.|P;D;B;B	.|0.63113	.|0.725;0.911;0.057;0.013	T|T	0.57154|0.57154	-0.7860|-0.7860	5|10	.|0.54805	.|T	.|0.06	-22.7621|-22.7621	16.5755|16.5755	0.84635|0.84635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|879;847;862;847	.|Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.|.;.;GT2D1_HUMAN;.	Y|N	225|862;879;847;847	.|ENSP00000265755:K862N;ENSP00000397566:K879N;ENSP00000408477:K847N;ENSP00000418383:K847N	.|ENSP00000265755:K862N	D|K	+|+	1|3	0|2	GTF2IRD1|GTF2IRD1	73643232|73643232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	2.160000|2.160000	0.42348|0.42348	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	GAT|AAG	GTF2IRD1	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.617	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	G	NM_016328		74005296	+1	no_errors	ENST00000265755	ensembl	human	known	70_37	missense	SNP	1.000	T
GTF2I	2969	genome.wustl.edu	37	7	74172300	74172300	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:74172300G>C	ENST00000324896.4	+	33	3294	c.2905G>C	c.(2905-2907)Gaa>Caa	p.E969Q	GTF2I_ENST00000416070.1_Missense_Mutation_p.E928Q|GTF2I_ENST00000346152.4_Missense_Mutation_p.E948Q|GTF2I_ENST00000353920.4_Missense_Mutation_p.E949Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	969					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGAATCAGCTGAACCAAGCCA	0.418																																																	0													6.0	7.0	7.0					7																	74172300		2050	3907	5957	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2905G>C	7.37:g.74172300G>C	ENSP00000322542:p.Glu969Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.E969Q	ENST00000324896.4	37	c.2905	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181388	0.38511	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	3.72	3.72	0.42706	.	0.457002	0.19714	N	0.107752	T	0.21103	0.0508	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.16166	0.016;0.007;0.007;0.007;0.004	B;B;B;B;B	0.17722	0.008;0.012;0.019;0.019;0.008	T	0.09662	-1.0664	10	0.72032	D	0.01	-16.6487	12.7677	0.57401	0.0:0.0:1.0:0.0	.	947;928;949;948;969	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	Q	969;964;949;948;928	ENSP00000322542:E969Q;ENSP00000322671:E949Q;ENSP00000322599:E948Q;ENSP00000387651:E928Q	ENSP00000322542:E969Q	E	+	1	0	GTF2I	73810236	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	4.722000	0.61958	2.104000	0.64026	0.449000	0.29647	GAA	GTF2I	-	pirsf_TF_II-I		0.418	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	G	NM_032999		74172300	+1	no_errors	ENST00000324896	ensembl	human	known	70_37	missense	SNP	1.000	C
GTF3C1	2975	genome.wustl.edu	37	16	27475925	27475925	+	Missense_Mutation	SNP	C	C	T	rs370190480		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:27475925C>T	ENST00000356183.4	-	34	5603	c.5588G>A	c.(5587-5589)cGc>cAc	p.R1863H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1863H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1863					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R1863H(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCTGGCGCGCCTCTTGGT	0.692																																																	1	Substitution - Missense(1)	large_intestine(1)						T	HIS/ARG	1,4391		0,1,2195	35.0	44.0	41.0		5588	1.2	0.0	16		41	0,8588		0,0,4294	no	missense	GTF3C1	NM_001520.3	29	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	benign	1863/2110	27475925	1,12979	2196	4294	6490	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5588G>A	16.37:g.27475925C>T	ENSP00000348510:p.Arg1863His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R1863H	ENST00000356183.4	37	c.5588	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	c	15.75	2.924873	0.52759	2.28E-4	0.0	ENSG00000077235	ENST00000356183	T	0.26373	1.74	4.71	1.18	0.20946	.	0.662303	0.14249	N	0.331597	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	1	B;D	0.69078	0.014;0.997	B;P	0.57548	0.005;0.823	T	0.11179	-1.0598	10	0.39692	T	0.17	-16.5542	9.1594	0.37012	0.0:0.7077:0.0:0.2923	.	1863;1863	Q12789;Q12789-3	TF3C1_HUMAN;.	H	1863	ENSP00000348510:R1863H	ENSP00000348510:R1863H	R	-	2	0	GTF3C1	27383426	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	0.046000	0.14035	0.449000	0.26747	-1.402000	0.01139	CGC	GTF3C1	-	NULL		0.692	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27475925	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.019	T
GTF3C6	112495	genome.wustl.edu	37	6	111288815	111288815	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:111288815C>T	ENST00000329970.7	+	6	674	c.464C>T	c.(463-465)tCa>tTa	p.S155L	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	155					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GTGGTAGCTTCAGCCCCAGAT	0.398																																																	0													107.0	112.0	110.0					6																	111288815		2203	4300	6503	SO:0001583	missense	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.464C>T	6.37:g.111288815C>T	ENSP00000357863:p.Ser155Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.S155L	ENST00000329970.7	37	c.464	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	c	9.857	1.195200	0.22037	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.15	3.03	0.35002	.	0.940382	0.08994	N	0.863997	T	0.13543	0.0328	N	0.19112	0.55	0.09310	N	0.999999	B	0.11235	0.004	B	0.04013	0.001	T	0.32375	-0.9909	9	0.49607	T	0.09	-22.6893	10.8176	0.46585	0.5292:0.4708:0.0:0.0	.	155	Q969F1	TF3C6_HUMAN	L	155	.	ENSP00000357863:S155L	S	+	2	0	GTF3C6	111395508	0.052000	0.20516	0.009000	0.14445	0.277000	0.26821	1.653000	0.37323	1.264000	0.44198	0.491000	0.48974	TCA	GTF3C6	-	NULL		0.398	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	C	NM_138408		111288815	+1	no_errors	ENST00000329970	ensembl	human	known	70_37	missense	SNP	0.422	T
GTPBP2	54676	genome.wustl.edu	37	6	43588571	43588571	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:43588571G>C	ENST00000307126.5	-	0	2588				GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GATCCAGCATGAAAGCCAACA	0.532																																					GBM(116;405 1620 28302 32150 44768)												0																																										SO:0001624	3_prime_UTR_variant	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.*780C>G	6.37:g.43588571G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000307126.5	37	NULL	CCDS4903.1	6																																																																																			GTPBP2	-	-		0.532	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	G			43588571	-1	no_errors	ENST00000476510	ensembl	human	known	70_37	rna	SNP	0.080	C
GTF3C6	112495	genome.wustl.edu	37	6	111288847	111288847	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:111288847G>A	ENST00000329970.7	+	6	706	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	166					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		ATTGGAAGAGGAAGAGATTCA	0.388																																																	0													112.0	113.0	113.0					6																	111288847		2203	4300	6503	SO:0001583	missense	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.496G>A	6.37:g.111288847G>A	ENSP00000357863:p.Glu166Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.E166K	ENST00000329970.7	37	c.496	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	g	12.89	2.074069	0.36566	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.15	0.839	0.18907	.	1.121500	0.06572	N	0.748721	T	0.11067	0.0270	N	0.22421	0.69	0.23787	N	0.996843	B	0.23442	0.085	B	0.19666	0.026	T	0.34030	-0.9845	9	0.12103	T	0.63	-20.2914	12.3564	0.55178	0.106:0.3997:0.4944:0.0	.	166	Q969F1	TF3C6_HUMAN	K	166	.	ENSP00000357863:E166K	E	+	1	0	GTF3C6	111395540	0.838000	0.29461	0.608000	0.28969	0.901000	0.52897	0.842000	0.27627	0.228000	0.21019	-0.479000	0.04858	GAA	GTF3C6	-	NULL		0.388	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	G	NM_138408		111288847	+1	no_errors	ENST00000329970	ensembl	human	known	70_37	missense	SNP	0.733	A
GUCY1A3	2982	genome.wustl.edu	37	4	156632145	156632145	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:156632145G>A	ENST00000296518.7	+	6	1037	c.828G>A	c.(826-828)gtG>gtA	p.V276V	GUCY1A3_ENST00000513574.1_Silent_p.V276V|GUCY1A3_ENST00000511507.1_Silent_p.V276V|GUCY1A3_ENST00000393832.3_Silent_p.V18V|GUCY1A3_ENST00000511108.1_Silent_p.V276V|GUCY1A3_ENST00000455639.2_Silent_p.V276V|GUCY1A3_ENST00000506455.1_Silent_p.V276V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	276					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCTCGCTGGTGATTCCCACAT	0.463																																																	0													110.0	104.0	106.0					4																	156632145		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.828G>A	4.37:g.156632145G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V276	ENST00000296518.7	37	c.828	CCDS34085.1	4																																																																																			GUCY1A3	-	pfam_Haem_no_assoc-bd		0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	G			156632145	+1	no_errors	ENST00000296518	ensembl	human	known	70_37	silent	SNP	0.935	A
GUCY1B3	2983	genome.wustl.edu	37	4	156723364	156723364	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:156723364G>C	ENST00000264424.8	+	10	1257				GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000513437.1_Intron|GUCY1B3_ENST00000505764.1_Intron|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000502959.1_Intron|GUCY1B3_ENST00000503520.1_Intron	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCTAATTTTAGAGGATGTCCT	0.368																																																	0																																										SO:0001627	intron_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1176-130G>C	4.37:g.156723364G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z426|Q86WY5	Splice_Site	SNP	-	e7-1	ENST00000264424.8	37	c.972-1	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	1.904	-0.452359	0.04540	.	.	ENSG00000061918	ENST00000507146	.	.	.	4.13	-4.37	0.03633	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7845	0.01046	0.4351:0.1425:0.1995:0.2229	.	.	.	.	.	-1	.	.	.	+	.	.	GUCY1B3	156942814	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.578000	0.05841	-0.542000	0.06249	-0.142000	0.14014	.	GUCY1B3	-	-		0.368	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	G			156723364	+1	no_errors	ENST00000507146	ensembl	human	putative	70_37	splice_site	SNP	0.000	C
GYG1	2992	genome.wustl.edu	37	3	148714544	148714544	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:148714544G>A	ENST00000345003.4	+	4	634	c.334G>A	c.(334-336)Gat>Aat	p.D112N	GYG1_ENST00000484197.1_Missense_Mutation_p.D112N|GYG1_ENST00000483267.1_Missense_Mutation_p.D112N|GYG1_ENST00000296048.6_Missense_Mutation_p.D112N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	112					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAAATATTGATGATCTTTT	0.433																																																	0													85.0	84.0	84.0					3																	148714544		2203	4300	6503	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.334G>A	3.37:g.148714544G>A	ENSP00000340736:p.Asp112Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D112N	ENST00000345003.4	37	c.334	CCDS3139.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.625892	0.96671	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000492285;ENST00000461191	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	H	0.95365	3.66	0.80722	D	1	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	0.90475	0.4456	10	0.87932	D	0	-32.0382	20.7147	0.99709	0.0:0.0:1.0:0.0	.	112;112;112;112	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	N	112;112;112;112;66;112	ENSP00000340736:D112N;ENSP00000296048:D112N;ENSP00000419499:D112N;ENSP00000420683:D112N;ENSP00000418297:D66N;ENSP00000420247:D112N	ENSP00000296048:D112N	D	+	1	0	GYG1	150197234	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.438000	0.97539	2.902000	0.99343	0.650000	0.86243	GAT	GYG1	-	pfam_Glyco_trans_8		0.433	GYG1-001	KNOWN	basic|CCDS	protein_coding	GYG1	HGNC	protein_coding	OTTHUMT00000356046.1	G	NM_004130		148714544	+1	no_errors	ENST00000345003	ensembl	human	known	70_37	missense	SNP	1.000	A
GYG2	8908	genome.wustl.edu	37	X	2773193	2773193	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:2773193G>T	ENST00000381163.3	+	6	859	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	GYG2_ENST00000338623.5_Missense_Mutation_p.D193Y|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000542787.1_Missense_Mutation_p.D193Y|GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000398806.3_Missense_Mutation_p.D162Y	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	193					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCAGCTTTGACGGTAAGTC	0.547																																																	0													84.0	66.0	72.0					X																	2773193		2203	4299	6502	SO:0001583	missense	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.577G>T	X.37:g.2773193G>T	ENSP00000370555:p.Asp193Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D193Y	ENST00000381163.3	37	c.577	CCDS14121.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661484|2.661484	0.47572|0.47572	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93|.	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	D|.	0.85478|.	0.5706|.	H|H	0.94542|0.94542	3.55|3.55	0.58432|0.58432	D|D	0.999995|0.999995	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;1.0;1.0;1.0|.	D|.	0.90128|.	0.4204|.	10|.	0.87932|.	D|.	0|.	.|.	14.664|14.664	0.68893|0.68893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	193;193;153;162;162;193|.	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488|.	.;.;.;.;.;GLYG2_HUMAN|.	Y|L	162;193;193;193|11	ENSP00000381786:D162Y;ENSP00000370555:D193Y;ENSP00000341273:D193Y;ENSP00000446092:D193Y|.	ENSP00000341273:D193Y|.	D|X	+|+	1|2	0|2	GYG2|GYG2	2783193|2783193	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.085000|0.085000	0.17905|0.17905	7.703000|7.703000	0.84585|0.84585	1.519000|1.519000	0.48950|0.48950	0.600000|0.600000	0.82982|0.82982	GAC|TGA	GYG2	-	pfam_Glyco_trans_8		0.547	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	G	NM_003918		2773193	+1	no_errors	ENST00000381163	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC01219	104355220	genome.wustl.edu	37	11	2017210	2017210	+	lincRNA	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:2017210G>C	ENST00000418612.1	+	0	1444				H19_ENST00000390168.4_RNA																							GCCCAGGCTTGAGCTGGGTAG	0.562																																																	0													40.0	39.0	40.0					11																	2017210		875	1990	2865			283120																															11.37:g.2017210G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000418612.1	37	NULL		11																																																																																			H19	-	-		0.562	AC051649.6-001	KNOWN	basic	lincRNA	H19	HGNC	lincRNA	OTTHUMT00000034754.1	G			2017210	-1	no_errors	ENST00000411754	ensembl	human	known	70_37	rna	SNP	0.995	C
H3F3B	3021	genome.wustl.edu	37	17	73774737	73774737	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73774737C>T	ENST00000254810.4	-	4	482	c.350G>A	c.(349-351)aGa>aAa	p.R117K	H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000587560.1_Missense_Mutation_p.R117K|H3F3B_ENST00000592643.1_Missense_Mutation_p.E93K|H3F3B_ENST00000586607.1_Missense_Mutation_p.R117K|H3F3B_ENST00000589599.1_Missense_Mutation_p.R117K	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	117					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGGTGACTCTCTTAGCGTG	0.507																																																	0													126.0	121.0	123.0					17																	73774737		2203	4300	6503	SO:0001583	missense	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.350G>A	17.37:g.73774737C>T	ENSP00000254810:p.Arg117Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R117K	ENST00000254810.4	37	c.350	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187851	0.57909	.	.	ENSG00000132475	ENST00000254810	T	0.63096	-0.02	5.31	5.31	0.75309	.	0.000000	0.47852	U	0.000219	D	0.90369	0.6986	H	0.99955	5.045	0.44937	D	0.997951	.	.	.	.	.	.	D	0.94896	0.8052	8	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	K	117	ENSP00000254810:R117K	ENSP00000254810:R117K	R	-	2	0	H3F3B	71286332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.489000	0.81451	2.767000	0.95098	0.561000	0.74099	AGA	H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.507	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	C	NM_005324		73774737	-1	no_errors	ENST00000254810	ensembl	human	known	70_37	missense	SNP	1.000	T
H3F3B	3021	genome.wustl.edu	37	17	73774771	73774771	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73774771C>T	ENST00000254810.4	-	4	448	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000587560.1_Missense_Mutation_p.E106K|H3F3B_ENST00000592643.1_Silent_p.S81S|H3F3B_ENST00000586607.1_Missense_Mutation_p.E106K|H3F3B_ENST00000589599.1_Missense_Mutation_p.E106K	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	106					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGTATCTTCGAACAGACCC	0.582																																																	0													119.0	113.0	115.0					17																	73774771		2203	4300	6503	SO:0001583	missense	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.316G>A	17.37:g.73774771C>T	ENSP00000254810:p.Glu106Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E106K	ENST00000254810.4	37	c.316	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604792	0.66445	.	.	ENSG00000132475	ENST00000254810	T	0.71341	-0.56	5.31	4.35	0.52113	.	0.000000	0.64402	U	0.000019	D	0.84347	0.5452	M	0.89478	3.035	0.50813	D	0.999896	.	.	.	.	.	.	D	0.87731	0.2579	8	0.87932	D	0	.	14.1167	0.65159	0.0:0.9282:0.0:0.0718	.	.	.	.	K	106	ENSP00000254810:E106K	ENSP00000254810:E106K	E	-	1	0	H3F3B	71286366	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	7.489000	0.81451	1.482000	0.48325	-0.258000	0.10820	GAA	H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.582	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	C	NM_005324		73774771	-1	no_errors	ENST00000254810	ensembl	human	known	70_37	missense	SNP	1.000	T
HACL1	26061	genome.wustl.edu	37	3	15633153	15633153	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:15633153G>C	ENST00000321169.5	-	4	629	c.262C>G	c.(262-264)Ctc>Gtc	p.L88V	HACL1_ENST00000451445.2_Missense_Mutation_p.L88V|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.L88V	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	88					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCATGGATGAGACCTGGGCCA	0.383																																																	0													71.0	65.0	67.0					3																	15633153		2203	4300	6503	SO:0001583	missense	26061			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.262C>G	3.37:g.15633153G>C	ENSP00000323811:p.Leu88Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.L88V	ENST00000321169.5	37	c.262	CCDS2627.1	3	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581258	0.46006	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000457447	T;T;T	0.43688	1.52;1.53;0.94	5.65	5.65	0.86999	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.056130	0.64402	D	0.000001	T	0.47619	0.1455	N	0.17838	0.53	0.58432	D	0.999992	B;P;P	0.39551	0.206;0.529;0.678	P;P;P	0.54499	0.754;0.609;0.609	T	0.38156	-0.9674	10	0.38643	T	0.18	.	18.5568	0.91088	0.0:0.0:1.0:0.0	.	88;88;88	B4DXI5;E9PEN4;Q9UJ83	.;.;HACL1_HUMAN	V	88	ENSP00000323811:L88V;ENSP00000403656:L88V;ENSP00000404883:L88V	ENSP00000323811:L88V	L	-	1	0	HACL1	15608157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.181000	0.58303	2.698000	0.92095	0.585000	0.79938	CTC	HACL1	-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.383	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	G	NM_012260		15633153	-1	no_errors	ENST00000321169	ensembl	human	known	70_37	missense	SNP	1.000	C
HAO2	51179	genome.wustl.edu	37	1	119923791	119923791	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:119923791G>C	ENST00000325945.3	+	2	156	c.83G>C	c.(82-84)gGa>gCa	p.G28A	HAO2_ENST00000361035.4_Missense_Mutation_p.G41A	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	28	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATTGAAGGTGGAGCAGATGAC	0.483																																																	0													210.0	195.0	200.0					1																	119923791		2203	4300	6503	SO:0001583	missense	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.83G>C	1.37:g.119923791G>C	ENSP00000316339:p.Gly28Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.G41A	ENST00000325945.3	37	c.122	CCDS901.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358364	0.41801	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.36878	1.23;1.23;1.23	5.4	1.25	0.21368	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.220918	0.47455	N	0.000225	T	0.21801	0.0525	L	0.55834	1.745	0.58432	D	0.999999	P	0.42357	0.777	P	0.47827	0.558	T	0.02966	-1.1088	9	.	.	.	-3.5141	6.9975	0.24791	0.0696:0.1795:0.6361:0.1148	.	28	Q9NYQ3	HAOX2_HUMAN	A	28;41;28	ENSP00000393955:G28A;ENSP00000354314:G41A;ENSP00000316339:G28A	.	G	+	2	0	HAO2	119725314	1.000000	0.71417	0.827000	0.32855	0.072000	0.16883	3.520000	0.53465	-0.013000	0.14199	0.655000	0.94253	GGA	HAO2	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.483	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	G	NM_001005783		119923791	+1	no_errors	ENST00000361035	ensembl	human	known	70_37	missense	SNP	1.000	C
CHTF8	54921	genome.wustl.edu	37	16	69152355	69152355	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69152355G>C	ENST00000448552.2	-	0	2460				CHTF8_ENST00000518041.1_3'UTR|HAS3_ENST00000219322.3_Missense_Mutation_p.R279T|CHTF8_ENST00000306585.6_3'UTR|CHTF8_ENST00000523421.1_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CACGTTTCTAGAGAGCAGTGA	0.537																																																	0													106.0	82.0	90.0					16																	69152355		2198	4300	6498	SO:0001624	3_prime_UTR_variant	3038				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*1973C>G	16.37:g.69152355G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	NULL	p.R279T	ENST00000448552.2	37	c.836	CCDS42185.1	16	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966084	0.34659	.	.	ENSG00000103044	ENST00000219322	T	0.48836	0.8	5.07	0.149	0.14863	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.47994	D	0.999567	B	0.02656	0.0	B	0.01281	0.0	T	0.30504	-0.9976	8	0.87932	D	0	.	0.7337	0.00961	0.2361:0.1852:0.3886:0.1901	.	279	O00219-2	.	T	279	ENSP00000219322:R279T	ENSP00000219322:R279T	R	+	2	0	HAS3	67709856	0.987000	0.35691	0.922000	0.36590	0.972000	0.66771	0.188000	0.17018	0.232000	0.21100	0.655000	0.94253	AGA	HAS3	-	NULL		0.537	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000376352.2	G	NM_017804		69152355	+1	no_errors	ENST00000219322	ensembl	human	known	70_37	missense	SNP	0.780	C
HAUS6	54801	genome.wustl.edu	37	9	19060161	19060161	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:19060161C>G	ENST00000380502.3	-	15	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E428Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	564					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTAGTTCCTCTAATTTTATT	0.368																																																	0													45.0	42.0	43.0					9																	19060161		2203	4297	6500	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1690G>C	9.37:g.19060161C>G	ENSP00000369871:p.Glu564Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.E564Q	ENST00000380502.3	37	c.1690	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734678	0.48939	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.50277	1.75;1.78;0.75	5.78	3.82	0.43975	.	0.353223	0.35615	N	0.003089	T	0.62405	0.2425	M	0.70595	2.14	0.28229	N	0.926173	D;D;P;P	0.71674	0.998;0.998;0.607;0.599	P;P;B;B	0.59703	0.862;0.862;0.223;0.28	T	0.60141	-0.7321	10	0.37606	T	0.19	-8.4463	15.2398	0.73461	0.0:0.7343:0.2657:0.0	.	529;564;428;564	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	Q	564;428;80	ENSP00000369871:E564Q;ENSP00000369865:E428Q;ENSP00000409615:E80Q	ENSP00000369865:E428Q	E	-	1	0	HAUS6	19050161	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.355000	0.52262	1.437000	0.47472	0.591000	0.81541	GAG	HAUS6	-	NULL		0.368	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	C	NM_017645		19060161	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	missense	SNP	1.000	G
HCFC2	29915	genome.wustl.edu	37	12	104480731	104480731	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:104480731G>C	ENST00000229330.4	+	8	1274	c.1170G>C	c.(1168-1170)ttG>ttC	p.L390F		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTTGCAGTTGAGTACAGACT	0.433																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													141.0	123.0	129.0					12																	104480731		2203	4300	6503	SO:0001583	missense	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1170G>C	12.37:g.104480731G>C	ENSP00000229330:p.Leu390Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L390F	ENST00000229330.4	37	c.1170	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259852	0.59321	.	.	ENSG00000111727	ENST00000229330	T	0.54479	0.57	5.43	1.47	0.22746	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.321368	0.28865	N	0.013883	T	0.66963	0.2843	M	0.70595	2.14	0.36336	D	0.859149	D	0.71674	0.998	D	0.83275	0.996	T	0.69453	-0.5141	10	0.49607	T	0.09	-1.9779	10.2822	0.43545	0.3619:0.0:0.6381:0.0	.	390	Q9Y5Z7	HCFC2_HUMAN	F	390	ENSP00000229330:L390F	ENSP00000229330:L390F	L	+	3	2	HCFC2	103004861	1.000000	0.71417	0.945000	0.38365	0.848000	0.48234	2.035000	0.41155	-0.004000	0.14419	0.650000	0.86243	TTG	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.433	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	G	NM_013320		104480731	+1	no_errors	ENST00000229330	ensembl	human	known	70_37	missense	SNP	0.998	C
HCK	3055	genome.wustl.edu	37	20	30659523	30659523	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:30659523G>A	ENST00000520553.1	+	2	304	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	HCK_ENST00000534862.1_Missense_Mutation_p.E21K|HCK_ENST00000518730.1_Missense_Mutation_p.E20K|HCK_ENST00000375852.2_Missense_Mutation_p.E41K|HCK_ENST00000375862.2_Missense_Mutation_p.E41K|HCK_ENST00000538448.1_Missense_Mutation_p.E20K	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	41					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTCAAAAACTGAAACCAGCGC	0.582																																																	0													118.0	97.0	104.0					20																	30659523		2203	4300	6503	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.58G>A	20.37:g.30659523G>A	ENSP00000429848:p.Glu20Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E41K	ENST00000520553.1	37	c.121	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886750	0.33348	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.73;-0.74	4.28	3.29	0.37713	.	0.224852	0.27206	N	0.020427	T	0.58148	0.2102	L	0.27053	0.805	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.19391	0.025;0.007	T	0.39482	-0.9612	10	0.16896	T	0.51	.	9.9746	0.41774	0.0:0.2065:0.7935:0.0	.	20;41	P08631-3;P08631	.;HCK_HUMAN	K	21;20;41;20;20;41	ENSP00000444986:E21K;ENSP00000441169:E20K;ENSP00000365022:E41K;ENSP00000429848:E20K;ENSP00000427757:E20K;ENSP00000365012:E41K	ENSP00000365012:E41K	E	+	1	0	HCK	30123184	0.972000	0.33761	0.022000	0.16811	0.125000	0.20455	2.270000	0.43355	1.099000	0.41499	0.305000	0.20034	GAA	HCK	-	NULL		0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	G			30659523	+1	no_errors	ENST00000375852	ensembl	human	known	70_37	missense	SNP	0.028	A
HDAC6	10013	genome.wustl.edu	37	X	48674575	48674575	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48674575C>G	ENST00000334136.5	+	18	1699	c.1521C>G	c.(1519-1521)atC>atG	p.I507M	HDAC6_ENST00000376619.2_Missense_Mutation_p.I507M|HDAC6_ENST00000444343.2_Missense_Mutation_p.I521M			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	507	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCAGCGCATCTTGCGGATCA	0.647																																					Pancreas(112;205 1675 2305 8976 15959)												0													98.0	79.0	85.0					X																	48674575		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1521C>G	X.37:g.48674575C>G	ENSP00000334061:p.Ile507Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.I521M	ENST00000334136.5	37	c.1563	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993464	0.35131	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.71579	-0.58;-0.58;-0.58	5.85	3.85	0.44370	Histone deacetylase domain (2);	0.174104	0.47093	D	0.000241	T	0.79435	0.4445	M	0.76938	2.355	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.981	P;D;P	0.79784	0.882;0.993;0.882	T	0.78914	-0.2016	10	0.87932	D	0	-13.2619	2.5883	0.04836	0.231:0.4919:0.0:0.277	.	497;155;507	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	M	521;507;507;507	ENSP00000398566:I521M;ENSP00000334061:I507M;ENSP00000365804:I507M	ENSP00000334061:I507M	I	+	3	3	HDAC6	48559519	0.027000	0.19231	0.099000	0.21106	0.144000	0.21451	0.102000	0.15272	1.207000	0.43291	0.594000	0.82650	ATC	HDAC6	-	pfam_His_deacetylse_dom		0.647	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48674575	+1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	0.503	G
HES1	3280	genome.wustl.edu	37	3	193855591	193855591	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:193855591C>G	ENST00000232424.3	+	4	648	c.412C>G	c.(412-414)Cgg>Ggg	p.R138G		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GGTGCGCACTCGGCTGCTCGG	0.667																																																	0													65.0	58.0	60.0					3																	193855591		2203	4300	6503	SO:0001583	missense	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.412C>G	3.37:g.193855591C>G	ENSP00000232424:p.Arg138Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.R138G	ENST00000232424.3	37	c.412	CCDS3305.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248254	0.80024	.	.	ENSG00000114315	ENST00000232424	T	0.59772	0.24	4.46	4.46	0.54185	Orange subgroup (1);Orange (2);	0.178359	0.49305	N	0.000158	T	0.71888	0.3393	M	0.87971	2.92	0.80722	D	1	P	0.47762	0.9	P	0.49953	0.627	T	0.79451	-0.1798	10	0.66056	D	0.02	-11.9577	16.5053	0.84270	0.0:1.0:0.0:0.0	.	138	Q14469	HES1_HUMAN	G	138	ENSP00000232424:R138G	ENSP00000232424:R138G	R	+	1	2	HES1	195338285	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.942000	0.70203	2.190000	0.69967	0.555000	0.69702	CGG	HES1	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange		0.667	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	C			193855591	+1	no_errors	ENST00000232424	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H2AH	85235	genome.wustl.edu	37	6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27115271G>A	ENST00000377459.1	+	1	411	c.364G>A	c.(364-366)Gag>Aag	p.E122K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522																																																	0													59.0	62.0	61.0					6																	27115271		2203	4300	6503	SO:0001583	missense	85235			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.364G>A	6.37:g.27115271G>A	ENSP00000366679:p.Glu122Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122K	ENST00000377459.1	37	c.364	CCDS4622.1	6	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198379	0.38806	.	.	ENSG00000184825	ENST00000377459	D	0.90261	-2.64	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (1);	0.000000	0.41500	D	0.000879	T	0.73892	0.3645	N	0.12527	0.23	0.38976	D	0.958849	B	0.19935	0.04	B	0.19148	0.024	T	0.72320	-0.4329	10	0.39692	T	0.17	.	14.5447	0.68020	0.0:0.0:1.0:0.0	.	122	Q96KK5	H2A1H_HUMAN	K	122	ENSP00000366679:E122K	ENSP00000366679:E122K	E	+	1	0	HIST1H2AH	27223250	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	8.660000	0.91121	2.201000	0.70794	0.655000	0.94253	GAG	HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	G	NM_080596		27115271	+1	no_errors	ENST00000377459	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H2AJ	8331	genome.wustl.edu	37	6	27782446	27782446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27782446G>A	ENST00000333151.3	-	1	161	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACGGGAAACTGAAGCCCGGCC	0.627																																																	0													26.0	34.0	32.0					6																	27782446		2195	4290	6485	SO:0001587	stop_gained	8331			Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"""Histones / Replication-dependent"""	4727	protein-coding gene	gene with protein product		602791	"""H2A histone family, member E"", ""histone 1, H2aj"""	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.73C>T	6.37:g.27782446G>A	ENSP00000328484:p.Gln25*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUU6|Q5JXQ5	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q25*	ENST00000333151.3	37	c.73	CCDS4628.1	6	.	.	.	.	.	.	.	.	.	.	.	25.4	4.638337	0.87760	.	.	ENSG00000182611	ENST00000333151	.	.	.	4.06	4.06	0.47325	.	0.000000	0.31268	U	0.007948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4632	0.84070	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000328484:Q25X	Q	-	1	0	HIST1H2AJ	27890425	1.000000	0.71417	0.962000	0.40283	0.584000	0.36387	5.196000	0.65136	2.531000	0.85337	0.655000	0.94253	CAG	HIST1H2AJ	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.627	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AJ	HGNC	protein_coding	OTTHUMT00000040154.1	G	NM_021066		27782446	-1	no_errors	ENST00000333151	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HIST1H3F	8968	genome.wustl.edu	37	6	26250758	26250758	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:26250758C>T	ENST00000446824.2	-	1	77	c.76G>A	c.(76-78)Gct>Act	p.A26T	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	26					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						CTTTTGCGAGCCGCCTTAGTG	0.607																																																	0													41.0	48.0	46.0					6																	26250758		2203	4300	6503	SO:0001583	missense	8968			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.76G>A	6.37:g.26250758C>T	ENSP00000444823:p.Ala26Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.A26T	ENST00000446824.2	37	c.76	CCDS4600.1	6	.	.	.	.	.	.	.	.	.	.	.	12.95	2.092099	0.36952	.	.	ENSG00000256316	ENST00000446824	T	0.48201	0.82	4.73	4.73	0.59995	.	.	.	.	.	T	0.57403	0.2051	.	.	.	0.44110	D	0.996881	.	.	.	.	.	.	T	0.59836	-0.7379	6	0.54805	T	0.06	.	17.5462	0.87863	0.0:1.0:0.0:0.0	.	.	.	.	T	26	ENSP00000444823:A26T	ENSP00000444823:A26T	A	-	1	0	HIST1H3F	26358737	1.000000	0.71417	0.989000	0.46669	0.037000	0.13140	7.632000	0.83247	2.555000	0.86185	0.491000	0.48974	GCT	HIST1H3F	-	superfamily_Histone-fold,prints_Histone_H3		0.607	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	HGNC	protein_coding	OTTHUMT00000040098.1	C	NM_021018		26250758	-1	no_errors	ENST00000446824	ensembl	human	known	70_37	missense	SNP	1.000	T
HIST1H3G	8355	genome.wustl.edu	37	6	26271487	26271487	+	Silent	SNP	G	G	A	rs377432393		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:26271487G>A	ENST00000305910.3	-	1	125	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	42					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCCGGGACGGTAGCGATGAG	0.642																																																	0													48.0	52.0	51.0					6																	26271487		2203	4300	6503	SO:0001819	synonymous_variant	8355			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.126C>T	6.37:g.26271487G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.Y42	ENST00000305910.3	37	c.126	CCDS4602.1	6																																																																																			HIST1H3G	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.642	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	G	NM_003534		26271487	-1	no_errors	ENST00000305910	ensembl	human	known	70_37	silent	SNP	1.000	A
HIST1H3H	8357	genome.wustl.edu	37	6	27778143	27778143	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27778143G>A	ENST00000369163.2	+	1	302	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGAGGCATGCGAGGCCTACCT	0.602																																																	0													73.0	65.0	67.0					6																	27778143		2203	4300	6503	SO:0001583	missense	8357			Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.292G>A	6.37:g.27778143G>A	ENSP00000358160:p.Glu98Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98K	ENST00000369163.2	37	c.292	CCDS4627.1	6	.	.	.	.	.	.	.	.	.	.	.	19.12	3.765987	0.69878	.	.	ENSG00000203813	ENST00000369163	T	0.77489	-1.1	4.33	4.33	0.51752	.	.	.	.	.	D	0.83317	0.5228	.	.	.	0.46011	D	0.998813	.	.	.	.	.	.	D	0.86016	0.1504	6	0.87932	D	0	.	16.683	0.85297	0.0:0.0:1.0:0.0	.	.	.	.	K	98	ENSP00000358160:E98K	ENSP00000358160:E98K	E	+	1	0	HIST1H3H	27886122	1.000000	0.71417	0.977000	0.42913	0.430000	0.31655	7.520000	0.81821	2.329000	0.79093	0.655000	0.94253	GAG	HIST1H3H	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.602	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3H	HGNC	protein_coding	OTTHUMT00000040151.1	G	NM_003536		27778143	+1	no_errors	ENST00000369163	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H2AK	8330	genome.wustl.edu	37	6	27805978	27805978	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27805978C>A	ENST00000330180.2	-	1	139	c.140G>T	c.(139-141)gGa>gTa	p.G47V	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	47						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CACCGGCGCTCCGGCACCGAC	0.642																																																	0													41.0	45.0	44.0					6																	27805978		2203	4299	6502	SO:0001583	missense	8330			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.140G>T	6.37:g.27805978C>A	ENSP00000330307:p.Gly47Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.G47V	ENST00000330180.2	37	c.140	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	14.48	2.549188	0.45383	.	.	ENSG00000184348	ENST00000330180	T	0.44083	0.93	4.42	3.54	0.40534	.	0.000000	0.31709	U	0.007184	T	0.45236	0.1332	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.49051	-0.8979	7	0.87932	D	0	.	11.5811	0.50891	0.0:0.91:0.0:0.09	.	.	.	.	V	47	ENSP00000330307:G47V	ENSP00000330307:G47V	G	-	2	0	HIST1H2AK	27913957	0.998000	0.40836	0.977000	0.42913	0.197000	0.23852	4.543000	0.60684	2.369000	0.80426	0.655000	0.94253	GGA	HIST1H2AK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.642	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	C	NM_003510		27805978	-1	no_errors	ENST00000330180	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST3H2A	92815	genome.wustl.edu	37	1	228645291	228645291	+	Missense_Mutation	SNP	C	C	G	rs368009827		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:228645291C>G	ENST00000366695.2	-	1	269	c.228G>C	c.(226-228)aaG>aaC	p.K76N	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	76					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				TGATGCGCGTCTTCTTGTTGT	0.692																																																	0													72.0	68.0	69.0					1																	228645291		2203	4299	6502	SO:0001583	missense	92815			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.228G>C	1.37:g.228645291C>G	ENSP00000355656:p.Lys76Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K76N	ENST00000366695.2	37	c.228	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.318741	0.60524	.	.	ENSG00000181218	ENST00000366695	T	0.70282	-0.47	3.84	1.98	0.26296	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.50627	D	0.000113	D	0.86485	0.5944	H	0.96547	3.84	0.39550	D	0.968967	D	0.89917	1.0	D	0.81914	0.995	D	0.86765	0.1969	10	0.87932	D	0	.	8.3204	0.32126	0.0:0.7992:0.0:0.2008	.	76	Q7L7L0	H2A3_HUMAN	N	76	ENSP00000355656:K76N	ENSP00000355656:K76N	K	-	3	2	HIST3H2A	226711914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.207000	0.42788	0.599000	0.29845	0.655000	0.94253	AAG	HIST3H2A	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.692	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	HGNC	protein_coding	OTTHUMT00000096598.1	C	NM_033445		228645291	-1	no_errors	ENST00000366695	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST4H4	121504	genome.wustl.edu	37	12	14923746	14923746	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:14923746C>T	ENST00000539745.1	-	1	319	c.273G>A	c.(271-273)ctG>ctA	p.L91L	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	91					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CCTGGCGTTTCAGCGCGTACA	0.577											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94.0	81.0	85.0					12																	14923746		2203	4300	6503	SO:0001819	synonymous_variant	121504			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.273G>A	12.37:g.14923746C>T		Somatic	698	WXS	Illumina HiSeq	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L91	ENST00000539745.1	37	c.273	CCDS8665.1	12																																																																																			HIST4H4	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4		0.577	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST4H4	HGNC	protein_coding	OTTHUMT00000400844.1	C	NM_175054		14923746	-1	no_errors	ENST00000358064	ensembl	human	known	70_37	silent	SNP	0.954	T
HK2	3099	genome.wustl.edu	37	2	75108881	75108881	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:75108881C>A	ENST00000290573.2	+	11	2214	c.1614C>A	c.(1612-1614)ttC>ttA	p.F538L	HK2_ENST00000409174.1_Missense_Mutation_p.F510L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	538	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.F538F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACAAATTTCCGGGTCCTGC	0.557																																																	1	Substitution - coding silent(1)	breast(1)											83.0	80.0	81.0					2																	75108881		2203	4300	6503	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1614C>A	2.37:g.75108881C>A	ENSP00000290573:p.Phe538Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.F538L	ENST00000290573.2	37	c.1614	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347431	0.61183	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98633	-5.04;-5.04	5.25	4.38	0.52667	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.99184	1.0868	10	0.59425	D	0.04	-25.7677	11.9803	0.53115	0.0:0.9161:0.0:0.0839	.	538	P52789	HXK2_HUMAN	L	538;538;510	ENSP00000290573:F538L;ENSP00000387140:F510L	ENSP00000290573:F538L	F	+	3	2	HK2	74962389	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.021000	0.41020	1.591000	0.50007	-0.140000	0.14226	TTC	HK2	-	pfam_Hexokinase_N,prints_Hexokinase		0.557	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75108881	+1	no_errors	ENST00000290573	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-A	3105	genome.wustl.edu	37	6	29911302	29911302	+	Nonsense_Mutation	SNP	G	G	T	rs41546018		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:29911302G>T	ENST00000396634.1	+	5	942	c.601G>T	c.(601-603)Gag>Tag	p.E201*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E201*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	201	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)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAACGGGAAGGAGACGCTGCA	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.601G>T	6.37:g.29911302G>T	ENSP00000379873:p.Glu201*	Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_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.E201*	ENST00000396634.1	37	c.601	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	37	6.618998	0.97709	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.54	3.54	0.40534	.	1.724340	0.04698	U	0.415309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.0189	0.58775	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000365998:E201X	E	+	1	0	HLA-A	30019281	0.951000	0.32395	0.529000	0.27951	0.371000	0.29859	1.475000	0.35409	1.987000	0.57996	0.485000	0.47835	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29911302	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.975	T
HLA-B	3106	genome.wustl.edu	37	6	31323127	31323127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31323127C>A	ENST00000412585.2	-	4	890	c.862G>T	c.(862-864)Gag>Tag	p.E288*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	288	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E288*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCAGCCCCTCATGCTGTACA	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Substitution - Nonsense(1)	endometrium(1)											66.0	61.0	63.0					6																	31323127		2203	4300	6503	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.862G>T	6.37:g.31323127C>A	ENSP00000399168:p.Glu288*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29764	Nonsense_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.E288*	ENST00000412585.2	37	c.862	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.97	1.798406	0.31777	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	1.29	0.21616	.	0.421858	0.17204	U	0.182989	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.6137	0.08070	0.0:0.5455:0.2111:0.2434	.	.	.	.	X	288;167;167	.	ENSP00000399168:E288X	E	-	1	0	HLA-B	31431106	0.027000	0.19231	0.618000	0.29105	0.058000	0.15608	0.432000	0.21461	0.188000	0.20168	-0.502000	0.04539	GAG	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514		31323127	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.933	A
HLA-B	3106	genome.wustl.edu	37	6	31323160	31323160	+	Nonsense_Mutation	SNP	C	C	A	rs41542113		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31323160C>A	ENST00000412585.2	-	4	857	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	277	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTGCTCTTCTCCAGAAGGC	0.567									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													86.0	72.0	77.0					6																	31323160		2203	4300	6503	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.829G>T	6.37:g.31323160C>A	ENSP00000399168:p.Glu277*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29764	Nonsense_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.E277*	ENST00000412585.2	37	c.829	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	14.85	2.658499	0.47467	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	-0.183	0.13284	.	0.353908	0.19562	U	0.111317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.8421	0.23969	0.0:0.5591:0.3306:0.1104	.	.	.	.	X	277;156;156	.	ENSP00000399168:E277X	E	-	1	0	HLA-B	31431139	0.017000	0.18338	0.996000	0.52242	0.488000	0.33401	0.486000	0.22340	0.166000	0.19597	0.442000	0.29010	GAA	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.567	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514		31323160	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.991	A
HLA-DQA1	3117	genome.wustl.edu	37	6	32609161	32609161	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32609161G>C	ENST00000343139.5	+	2	259	c.157G>C	c.(157-159)Gat>Cat	p.D53H	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.D53H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.D53H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	53	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CCATGAATTTGATGGAGATGA	0.522																																																	0													127.0	106.0	113.0					6																	32609161		2202	4285	6487	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.157G>C	6.37:g.32609161G>C	ENSP00000339398:p.Asp53His	Somatic		WXS	Illumina HiSeq	Phase_IV	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.D53H	ENST00000343139.5	37	c.157	CCDS4752.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.13|12.13	1.845218|1.845218	0.32606|0.32606	.|.	.|.	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.03004|.	4.08;4.08;4.08;4.08|.	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.78240|0.78240	0.4252|0.4252	H|H	0.96365|0.96365	3.81|3.81	0.37296|0.37296	D|D	0.908465|0.908465	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.82651|0.82651	-0.0352|-0.0352	10|5	0.87932|.	D|.	0|.	.|.	7.4539|7.4539	0.27255|0.27255	0.1172:0.0:0.8828:0.0|0.1172:0.0:0.8828:0.0	.|.	59;53|.	Q59F33;G4XQK2|.	.;.|.	H|F	53|25	ENSP00000339398:D53H;ENSP00000378767:D53H;ENSP00000437302:D53H;ENSP00000364087:D53H|.	ENSP00000339398:D53H|.	D|L	+|+	1|3	0|2	HLA-DQA1|HLA-DQA1	32717139|32717139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.073000|0.073000	0.16967|0.16967	3.780000|3.780000	0.55386|0.55386	2.151000|2.151000	0.67156|0.67156	0.462000|0.462000	0.41574|0.41574	GAT|TTG	HLA-DQA1	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.522	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	G	NM_002122		32609161	+1	no_errors	ENST00000343139	ensembl	human	known	70_37	missense	SNP	1.000	C
HLA-DMA	3108	genome.wustl.edu	37	6	32917053	32917053	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32917053G>C	ENST00000374843.4	-	4	861	c.776C>G	c.(775-777)tCa>tGa	p.S259*	HLA-DMA_ENST00000395303.3_Nonsense_Mutation_p.S225*|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Nonsense_Mutation_p.S164*	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	259					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						CATACCACCTGAGCAAGGCTT	0.567																																																	0													82.0	81.0	81.0					6																	32917053		2203	4300	6503	SO:0001587	stop_gained	3108				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.776C>G	6.37:g.32917053G>C	ENSP00000363976:p.Ser259*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29639|Q29640	Nonsense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.S259*	ENST00000374843.4	37	c.776	CCDS4761.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025782	0.54683	.	.	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	.	.	.	5.0	1.12	0.20585	.	4.259390	0.00481	N	0.000136	.	.	.	.	.	.	0.25391	N	0.988524	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7695	0.08636	0.0876:0.3063:0.4482:0.1579	.	.	.	.	X	164;225;259;289	.	ENSP00000363976:S259X	S	-	2	0	HLA-DMA	33025031	0.204000	0.23447	0.202000	0.23494	0.793000	0.44817	0.585000	0.23879	0.088000	0.17205	0.551000	0.68910	TCA	HLA-DMA	-	NULL		0.567	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMA	HGNC	protein_coding	OTTHUMT00000076325.2	G	NM_006120		32917053	-1	no_errors	ENST00000374843	ensembl	human	known	70_37	nonsense	SNP	0.235	C
HMCN1	83872	genome.wustl.edu	37	1	186050494	186050494	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:186050494C>T	ENST00000271588.4	+	56	8984	c.8755C>T	c.(8755-8757)Cat>Tat	p.H2919Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.H2919Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2919	Ig-like C2-type 27.				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						AGATGACCATCATAAATTTCT	0.383																																																	0													105.0	104.0	105.0					1																	186050494		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.8755C>T	1.37:g.186050494C>T	ENSP00000271588:p.His2919Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	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.H2919Y	ENST00000271588.4	37	c.8755	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454182	0.43634	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64438	-0.1;-0.1	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.137912	0.64402	D	0.000003	T	0.44138	0.1279	N	0.10972	0.075	0.42596	D	0.993263	P	0.40834	0.73	P	0.44860	0.462	T	0.46721	-0.9171	10	0.02654	T	1	.	13.3845	0.60789	0.0:0.9284:0.0:0.0716	.	2919	Q96RW7	HMCN1_HUMAN	Y	2919	ENSP00000271588:H2919Y;ENSP00000356462:H2919Y	ENSP00000271588:H2919Y	H	+	1	0	HMCN1	184317117	0.959000	0.32827	0.041000	0.18516	0.950000	0.60333	2.449000	0.44935	2.778000	0.95560	0.655000	0.94253	CAT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		186050494	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.746	T
HMGN1	3150	genome.wustl.edu	37	21	40720242	40720242	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:40720242C>A	ENST00000380749.5	-	4	384	c.102G>T	c.(100-102)gcG>gcT	p.A34A	HMGN1_ENST00000361263.4_5'Flank|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000380748.1_Silent_p.A24A|HMGN1_ENST00000380747.1_Silent_p.A50A|HMGN1_ENST00000489072.1_5'UTR	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	34					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTTCGGCTTCGCTTCCACTT	0.562																																																	0													90.0	90.0	90.0					21																	40720242		2203	4300	6503	SO:0001819	synonymous_variant	3150				CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.102G>T	21.37:g.40720242C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQR8	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A34	ENST00000380749.5	37	c.102	CCDS33559.1	21																																																																																			HMGN1	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam		0.562	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN1	HGNC	protein_coding	OTTHUMT00000141645.2	C	NM_004965		40720242	-1	no_errors	ENST00000380749	ensembl	human	known	70_37	silent	SNP	0.759	A
HMGXB3	22993	genome.wustl.edu	37	5	149420366	149420366	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149420366C>T	ENST00000502717.1	+	14	2933	c.2469C>T	c.(2467-2469)atC>atT	p.I823I	HMGXB3_ENST00000503427.1_Silent_p.I791I	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	1069					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						TTTTTGCAATCAGAAATCAGA	0.448																																																	0													196.0	171.0	179.0					5																	149420366		692	1591	2283	SO:0001819	synonymous_variant	22993			D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.2469C>T	5.37:g.149420366C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9Y4|Q86UG3|Q9UMF4	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.I823	ENST00000502717.1	37	c.2469	CCDS54935.1	5																																																																																			HMGXB3	-	NULL		0.448	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGXB3	HGNC	protein_coding	OTTHUMT00000373771.1	C	XM_001717202		149420366	+1	no_errors	ENST00000502717	ensembl	human	known	70_37	silent	SNP	1.000	T
HNRNPUL1	11100	genome.wustl.edu	37	19	41778084	41778084	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:41778084G>C	ENST00000392006.3	+	3	689	c.516G>C	c.(514-516)aaG>aaC	p.K172N	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.K72N|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.K172N|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.K83N|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.K129N|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.K72N|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.K72N|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	172					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGTCGAAAGAGGCCTTATG	0.532																																																	0													131.0	146.0	141.0					19																	41778084		2203	4300	6503	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.516G>C	19.37:g.41778084G>C	ENSP00000375863:p.Lys172Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.K172N	ENST00000392006.3	37	c.516	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555921	0.86231	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.91894	0.6;-2.93;1.24;-2.88	6.08	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	L	0.58510	1.815	0.37231	D	0.905681	D;D;D;D;D;D	0.76494	0.979;0.962;0.998;0.999;0.995;0.988	P;P;D;D;P;P	0.80764	0.841;0.824;0.952;0.994;0.897;0.891	D	0.94905	0.8060	10	0.66056	D	0.02	-24.9568	11.9862	0.53149	0.1334:0.0:0.8666:0.0	.	83;72;172;129;172;72	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	N	72;172;129;83	ENSP00000340857:K72N;ENSP00000375863:K172N;ENSP00000367460:K129N;ENSP00000263367:K83N	ENSP00000263367:K83N	K	+	3	2	HNRNPUL1	46469924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.516000	0.45520	2.894000	0.99253	0.591000	0.81541	AAG	HNRNPUL1	-	NULL		0.532	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	G	NM_144732, NM_007040		41778084	+1	no_errors	ENST00000392006	ensembl	human	known	70_37	missense	SNP	1.000	C
HOXC11	3227	genome.wustl.edu	37	12	54369373	54369373	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:54369373G>A	ENST00000546378.1	+	0	1207				HOXC11_ENST00000243082.4_Silent_p.L365L|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11						anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CCCTCTATCTGACTCTCGCTG	0.632			T	NUP98	AML																																			Dom	yes		12	12q13.3	3227	homeo box C11		L	0																																										SO:0001624	3_prime_UTR_variant	3227				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.*176G>A	12.37:g.54369373G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7D1|Q96DH2	Silent	SNP	pfam_DUF3528	p.L365	ENST00000546378.1	37	c.1095	CCDS8867.1	12																																																																																			HOXC11	-	NULL		0.632	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC11	HGNC	protein_coding	OTTHUMT00000358869.2	G			54369373	+1	no_errors	ENST00000243082	ensembl	human	novel	70_37	silent	SNP	0.259	A
HOXD12	3238	genome.wustl.edu	37	2	176965365	176965365	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:176965365G>A	ENST00000406506.2	+	2	762	c.690G>A	c.(688-690)caG>caA	p.Q230Q	HOXD12_ENST00000404162.2_Missense_Mutation_p.E240K			P35452	HXD12_HUMAN	homeobox D12	230					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCAACAGGCAGAAACGCAAGG	0.547																																																	0													40.0	43.0	42.0					2																	176965365		1992	4185	6177	SO:0001819	synonymous_variant	3238				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.690G>A	2.37:g.176965365G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	NULL	p.E240K	ENST00000406506.2	37	c.718	CCDS46456.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939002	0.52972	.	.	ENSG00000170178	ENST00000404162	.	.	.	5.29	4.42	0.53409	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.30339	N	0.785923	B	0.18863	0.031	B	0.19946	0.027	T	0.44757	-0.9307	7	0.87932	D	0	.	10.171	0.42911	0.1512:0.0:0.8488:0.0	.	240	B5MCD3	.	K	240	.	ENSP00000385132:E240K	E	+	1	0	HOXD12	176673611	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.086000	0.57664	1.249000	0.43950	-0.140000	0.14226	GAA	HOXD12	-	NULL		0.547	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD12	HGNC	protein_coding	OTTHUMT00000359253.2	G	NM_021193		176965365	+1	no_errors	ENST00000404162	ensembl	human	novel	70_37	missense	SNP	1.000	A
HRASLS5	117245	genome.wustl.edu	37	11	63258427	63258427	+	Missense_Mutation	SNP	G	G	A	rs148328959		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:63258427G>A	ENST00000301790.4	-	1	239	c.80C>T	c.(79-81)tCg>tTg	p.S27L	HRASLS5_ENST00000540857.1_Missense_Mutation_p.S27L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.S27L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	27							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGCGGTTCGCGAGGCGGGTTT	0.706																																																	0													12.0	13.0	13.0					11																	63258427		2194	4288	6482	SO:0001583	missense	117245			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.80C>T	11.37:g.63258427G>A	ENSP00000301790:p.Ser27Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.S27L	ENST00000301790.4	37	c.80	CCDS8044.1	11	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955921	0.18507	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.35421	1.31;1.8;1.31	2.57	0.607	0.17564	.	.	.	.	.	T	0.16599	0.0399	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25169	0.045;0.119;0.027	B;B;B	0.17433	0.006;0.018;0.003	T	0.23190	-1.0195	8	.	.	.	-2.5132	3.7134	0.08428	0.153:0.2598:0.5872:0.0	.	27;27;27	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	27	ENSP00000444809:S27L;ENSP00000443873:S27L;ENSP00000301790:S27L	.	S	-	2	0	HRASLS5	63015003	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.859000	0.04277	0.163000	0.19507	-1.031000	0.02408	TCG	HRASLS5	-	NULL		0.706	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	HGNC	protein_coding	OTTHUMT00000396375.1	G	NM_054108		63258427	-1	no_errors	ENST00000301790	ensembl	human	known	70_37	missense	SNP	0.002	A
HRNR	388697	genome.wustl.edu	37	1	152188725	152188725	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152188725C>T	ENST00000368801.2	-	3	5455	c.5380G>A	c.(5380-5382)Gac>Aac	p.D1794N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1794					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)			CCCTCCTGGTCAAAGGTTGAT	0.537																																																	0													5.0	9.0	8.0					1																	152188725		1235	3213	4448	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.5380G>A	1.37:g.152188725C>T	ENSP00000357791:p.Asp1794Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.D1794N	ENST00000368801.2	37	c.5380	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.586	0.669654	0.14776	.	.	ENSG00000197915	ENST00000368801	T	0.01538	4.79	3.59	-1.67	0.08238	.	.	.	.	.	T	0.00412	0.0013	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37596	-0.9699	9	0.13853	T	0.58	.	8.3962	0.32559	0.0:0.484:0.0:0.516	.	1794	Q86YZ3	HORN_HUMAN	N	1794	ENSP00000357791:D1794N	ENSP00000357791:D1794N	D	-	1	0	HRNR	150455349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.023000	0.01438	-0.214000	0.10078	-0.131000	0.14894	GAC	HRNR	-	NULL		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188725	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T
HSD17B12	51144	genome.wustl.edu	37	11	43702327	43702327	+	5'UTR	SNP	C	C	G	rs374030200		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:43702327C>G	ENST00000278353.4	+	0	69				HSD17B12_ENST00000395700.4_5'Flank|HSD17B12_ENST00000529261.1_Intron	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						CTCCTGGATTCATTCACTCGC	0.632																																					Ovarian(58;548 1143 13948 16572 34258)												0													32.0	37.0	36.0					11																	43702327		2203	4299	6502	SO:0001623	5_prime_UTR_variant	51144			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.-51C>G	11.37:g.43702327C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	RNA	SNP	-	NULL	ENST00000278353.4	37	NULL	CCDS7905.1	11																																																																																			HSD17B12	-	-		0.632	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	HGNC	protein_coding	OTTHUMT00000389594.1	C			43702327	+1	no_errors	ENST00000527433	ensembl	human	putative	70_37	rna	SNP	0.933	G
HSD17B13	345275	genome.wustl.edu	37	4	88235080	88235080	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88235080C>T	ENST00000328546.4	-	5	654	c.590G>A	c.(589-591)aGa>aAa	p.R197K	HSD17B13_ENST00000302219.6_Missense_Mutation_p.R161K	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	197						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TGTCAGACCTCTGTGAAAGCC	0.428																																																	0													96.0	93.0	94.0					4																	88235080		2203	4300	6503	SO:0001583	missense	345275				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.590G>A	4.37:g.88235080C>T	ENSP00000333300:p.Arg197Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R197K	ENST00000328546.4	37	c.590	CCDS3618.1	4	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348908	0.41599	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.87809	-2.3;-2.3	5.55	4.71	0.59529	NAD(P)-binding domain (1);	0.090404	0.45867	D	0.000323	T	0.73079	0.3541	N	0.11201	0.11	0.26677	N	0.971619	B;B	0.09022	0.002;0.002	B;B	0.13407	0.005;0.009	T	0.62473	-0.6847	10	0.42905	T	0.14	.	6.995	0.24777	0.0:0.7066:0.0:0.2934	.	161;197	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	K	161;197	ENSP00000305438:R161K;ENSP00000333300:R197K	ENSP00000305438:R161K	R	-	2	0	HSD17B13	88454104	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.286000	0.43496	1.327000	0.45338	0.655000	0.94253	AGA	HSD17B13	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR		0.428	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1	C	NM_178135		88235080	-1	no_errors	ENST00000328546	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPA8	3312	genome.wustl.edu	37	11	122930607	122930607	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:122930607C>A	ENST00000532636.1	-	5	813	c.694G>T	c.(694-696)Gat>Tat	p.D232Y	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.D232Y|HSPA8_ENST00000453788.2_Missense_Mutation_p.D232Y|HSPA8_ENST00000533540.1_Intron|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.D213Y|HSPA8_ENST00000227378.3_Missense_Mutation_p.D232Y|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	232	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGTCAAAATCTTCTCCACCC	0.463																																					Colon(21;486 594 5900 6733 14272)												0													65.0	63.0	63.0					11																	122930607		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.694G>T	11.37:g.122930607C>A	ENSP00000437125:p.Asp232Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D232Y	ENST00000532636.1	37	c.694	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832036	0.71258	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292	T;T;T;T;T;T	0.01272	5.07;5.07;5.07;5.07;5.07;5.07	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	H	0.99996	5.45	0.80722	D	1	P;B;B;P	0.44627	0.839;0.035;0.028;0.839	B;B;B;B	0.41946	0.371;0.009;0.005;0.371	T	0.56384	-0.7988	10	0.87932	D	0	-20.3621	17.7554	0.88447	0.0:1.0:0.0:0.0	.	232;232;232;232	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	Y	232;232;232;232;213;172	ENSP00000437125:D232Y;ENSP00000432083:D232Y;ENSP00000404372:D232Y;ENSP00000227378:D232Y;ENSP00000433584:D213Y;ENSP00000432884:D172Y	ENSP00000227378:D232Y	D	-	1	0	HSPA8	122435817	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.754000	0.85163	2.233000	0.73108	0.561000	0.74099	GAT	HSPA8	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122930607	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPA8	3312	genome.wustl.edu	37	11	122931493	122931493	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:122931493C>T	ENST00000532636.1	-	3	338	c.219G>A	c.(217-219)ctG>ctA	p.L73L	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Silent_p.L73L|HSPA8_ENST00000453788.2_Silent_p.L73L|HSPA8_ENST00000533540.1_Silent_p.L73L|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000526110.1_Silent_p.L73L|HSPA8_ENST00000227378.3_Silent_p.L73L|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	73					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCGTCCAATCAGACGTTTGG	0.403																																					Colon(21;486 594 5900 6733 14272)												0													71.0	72.0	72.0					11																	122931493		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.219G>A	11.37:g.122931493C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3R6	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L73	ENST00000532636.1	37	c.219	CCDS8440.1	11																																																																																			HSPA8	-	pfam_Hsp_70_fam		0.403	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122931493	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	silent	SNP	1.000	T
HSPBAP1	79663	genome.wustl.edu	37	3	122459587	122459587	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:122459587C>T	ENST00000306103.2	-	8	1215	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	358						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ACATTTAATTCTTCCTTTTTC	0.468																																																	0													216.0	204.0	208.0					3																	122459587		2203	4300	6503	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1072G>A	3.37:g.122459587C>T	ENSP00000302562:p.Glu358Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.E358K	ENST00000306103.2	37	c.1072	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799470	0.31869	.	.	ENSG00000169087	ENST00000306103	T	0.30182	1.54	5.01	4.06	0.47325	.	2.673090	0.00783	N	0.001283	T	0.24586	0.0596	L	0.27053	0.805	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.22417	-1.0217	10	0.16896	T	0.51	.	7.9623	0.30079	0.0:0.8399:0.0:0.1601	.	358	Q96EW2	HBAP1_HUMAN	K	358	ENSP00000302562:E358K	ENSP00000302562:E358K	E	-	1	0	HSPBAP1	123942277	0.006000	0.16342	0.104000	0.21259	0.261000	0.26267	1.436000	0.34980	1.213000	0.43380	0.655000	0.94253	GAA	HSPBAP1	-	NULL		0.468	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	C	NM_024610		122459587	-1	no_errors	ENST00000306103	ensembl	human	known	70_37	missense	SNP	0.008	T
HSPG2	3339	genome.wustl.edu	37	1	22161247	22161247	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22161247C>A	ENST00000374695.3	-	77	10724	c.10645G>T	c.(10645-10647)Gat>Tat	p.D3549Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3549	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGTCCCGCATCAGCCAGCTCT	0.607																																																	0													108.0	73.0	85.0					1																	22161247		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10645G>T	1.37:g.22161247C>A	ENSP00000363827:p.Asp3549Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.D3549Y	ENST00000374695.3	37	c.10645	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052555	0.55218	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	D;D	0.81821	-1.54;-1.54	4.54	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39687	N	0.001283	D	0.90950	0.7155	M	0.88450	2.955	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92961	0.6389	10	0.87932	D	0	.	15.8576	0.78994	0.0:1.0:0.0:0.0	.	1489;3549	Q59EG0;P98160	.;PGBM_HUMAN	Y	3549;101	ENSP00000363827:D3549Y;ENSP00000392022:D101Y	ENSP00000363827:D3549Y	D	-	1	0	HSPG2	22033834	1.000000	0.71417	0.361000	0.25849	0.216000	0.24613	7.330000	0.79181	2.072000	0.62099	0.313000	0.20887	GAT	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22161247	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.998	A
HSPG2	3339	genome.wustl.edu	37	1	22170719	22170719	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22170719C>G	ENST00000374695.3	-	65	8617	c.8538G>C	c.(8536-8538)ctG>ctC	p.L2846L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2846	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCACGCACTTCAGATCCAGGG	0.672																																																	0													63.0	62.0	62.0					1																	22170719		2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8538G>C	1.37:g.22170719C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.L2846	ENST00000374695.3	37	c.8538	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22170719	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	silent	SNP	1.000	G
HSPG2	3339	genome.wustl.edu	37	1	22202129	22202129	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22202129C>T	ENST00000374695.3	-	25	3374	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1099	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CACCTGCTCTCAGCGGGCTGC	0.657																																																	0													52.0	58.0	56.0					1																	22202129		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3295G>A	1.37:g.22202129C>T	ENSP00000363827:p.Glu1099Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.E1099K	ENST00000374695.3	37	c.3295	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021513	0.75275	.	.	ENSG00000142798	ENST00000374695	T	0.36157	1.27	5.44	5.44	0.79542	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.40385	N	0.001116	T	0.59783	0.2219	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.62001	-0.6946	10	0.72032	D	0.01	.	16.7485	0.85479	0.0:1.0:0.0:0.0	.	1099	P98160	PGBM_HUMAN	K	1099	ENSP00000363827:E1099K	ENSP00000363827:E1099K	E	-	1	0	HSPG2	22074716	1.000000	0.71417	0.953000	0.39169	0.144000	0.21451	5.348000	0.66004	2.551000	0.86045	0.511000	0.50034	GAG	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22202129	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.999	T
HSPG2	3339	genome.wustl.edu	37	1	22202741	22202741	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22202741G>C	ENST00000374695.3	-	23	3063	c.2984C>G	c.(2983-2985)tCa>tGa	p.S995*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	995	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	caggAAGCGTGAAGGGAGGCT	0.607																																																	0													38.0	37.0	38.0					1																	22202741		2203	4300	6503	SO:0001587	stop_gained	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2984C>G	1.37:g.22202741G>C	ENSP00000363827:p.Ser995*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S995*	ENST00000374695.3	37	c.2984	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.582153	0.98371	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.01	4.1	0.47936	.	0.913415	0.08919	N	0.874639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	6.4232	0.21756	0.0939:0.0:0.726:0.1801	.	.	.	.	X	995	.	ENSP00000363827:S995X	S	-	2	0	HSPG2	22075328	0.024000	0.19004	0.002000	0.10522	0.593000	0.36681	2.164000	0.42387	1.112000	0.41740	0.561000	0.74099	TCA	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.607	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22202741	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	nonsense	SNP	0.004	C
HTR3A	3359	genome.wustl.edu	37	11	113852023	113852023	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:113852023C>T	ENST00000504030.2	+	4	808	c.363C>T	c.(361-363)ctC>ctT	p.L121L	HTR3A_ENST00000355556.2_Silent_p.L127L|HTR3A_ENST00000299961.5_Silent_p.L106L|HTR3A_ENST00000375498.2_Silent_p.L127L|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Silent_p.L121L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	121					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGGACATTCTCATCAATGAGT	0.517																																																	0													113.0	79.0	91.0					11																	113852023		2201	4296	6497	SO:0001819	synonymous_variant	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.363C>T	11.37:g.113852023C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L127	ENST00000504030.2	37	c.381		11																																																																																			HTR3A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.517	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	C	NM_000869		113852023	+1	no_errors	ENST00000355556	ensembl	human	known	70_37	silent	SNP	1.000	T
HTR3D	200909	genome.wustl.edu	37	3	183756706	183756706	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:183756706C>G	ENST00000382489.3	+	8	1308	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	HTR3D_ENST00000453435.1_Silent_p.L215L|HTR3D_ENST00000428798.2_Silent_p.L386L|HTR3D_ENST00000334128.2_Silent_p.L261L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	436					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L261L(1)|p.L436L(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TCTTCCGCCTCTACCTGCTCT	0.587																																																	2	Substitution - coding silent(2)	lung(2)											171.0	157.0	162.0					3																	183756706		2203	4300	6503	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1308C>G	3.37:g.183756706C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L436	ENST00000382489.3	37	c.1308	CCDS54685.1	3																																																																																			HTR3D	-	superfamily_Neurotrans-gated_channel_TM		0.587	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183756706	+1	no_errors	ENST00000382489	ensembl	human	known	70_37	silent	SNP	0.229	G
HTR3E	285242	genome.wustl.edu	37	3	183815375	183815375	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:183815375C>T	ENST00000415389.2	+	1	524	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	HTR3E_ENST00000440596.2_5'Flank|HTR3E_ENST00000436361.2_5'Flank|HTR3E_ENST00000425359.2_Silent_p.L20L|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_5'Flank	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	20					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCTCGGTTTTCTGCTTCAAGG	0.443																																					Melanoma(7;227 727 6634 44770)												0																																										SO:0001819	synonymous_variant	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.58C>T	3.37:g.183815375C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.L20	ENST00000415389.2	37	c.58	CCDS58868.1	3																																																																																			HTR3E	-	NULL		0.443	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	C	NM_182589		183815375	+1	no_errors	ENST00000415389	ensembl	human	known	70_37	silent	SNP	0.292	T
HYDIN	54768	genome.wustl.edu	37	16	70952271	70952271	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:70952271G>A	ENST00000393567.2	-	47	7997	c.7847C>T	c.(7846-7848)tCa>tTa	p.S2616L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2616					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGACGATTGAGAATAAGGC	0.517																																																	0													2.0	2.0	2.0					16																	70952271		1357	3128	4485	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7847C>T	16.37:g.70952271G>A	ENSP00000377197:p.Ser2616Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.S2615L	ENST00000393567.2	37	c.7844	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976626	0.74360	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01745	4.66	5.76	5.76	0.90799	.	0.000000	0.30235	U	0.010098	T	0.09862	0.0242	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00599	-1.1651	10	0.56958	D	0.05	.	18.524	0.90965	0.0:0.0:1.0:0.0	.	2615	F8WD23	.	L	2616;2615	ENSP00000377197:S2616L	ENSP00000313052:S2615L	S	-	2	0	HYDIN	69509772	1.000000	0.71417	0.960000	0.40013	0.118000	0.20060	7.148000	0.77389	2.721000	0.93114	0.514000	0.50259	TCA	HYDIN	-	NULL		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	G			70952271	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.997	A
HYDIN	54768	genome.wustl.edu	37	16	71019146	71019146	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:71019146T>C	ENST00000393567.2	-	28	4424	c.4274A>G	c.(4273-4275)gAc>gGc	p.D1425G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1425					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTGGTGGTCAGTCAGAAC	0.502																																																	0																																										SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4274A>G	16.37:g.71019146T>C	ENSP00000377197:p.Asp1425Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.D1424G	ENST00000393567.2	37	c.4271	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	9.504	1.104062	0.20632	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	4.75	-0.329	0.12686	.	.	.	.	.	T	0.00784	0.0026	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45818	-0.9235	9	0.22109	T	0.4	.	5.3006	0.15776	0.0:0.3443:0.1518:0.504	.	1424	F8WD23	.	G	1425;1424	ENSP00000377197:D1425G	ENSP00000313052:D1424G	D	-	2	0	HYDIN	69576647	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.045000	0.14013	0.082000	0.17018	0.496000	0.49642	GAC	HYDIN	-	NULL		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71019146	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.000	C
IARS	3376	genome.wustl.edu	37	9	95003120	95003120	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:95003120C>G	ENST00000375643.3	-	30	3550				IARS_ENST00000443024.2_Intron|IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Intron|IARS_ENST00000375627.1_Intron|IARS_ENST00000474340.1_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCACACAAATCATGGAATTTA	0.328																																																	0													83.0	72.0	76.0					9																	95003120		2203	4300	6503	SO:0001627	intron_variant	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3283+17G>C	9.37:g.95003120C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	RNA	SNP	-	NULL	ENST00000375643.3	37	NULL	CCDS6694.1	9																																																																																			IARS	-	-		0.328	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	C	NM_002161		95003120	-1	no_errors	ENST00000473915	ensembl	human	known	70_37	rna	SNP	0.000	G
ICAM5	7087	genome.wustl.edu	37	19	10402778	10402778	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10402778G>A	ENST00000221980.4	+	4	804	c.741G>A	c.(739-741)gtG>gtA	p.V247V		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	247	Ig-like C2-type 3.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AAAGGCCCGTGAGCTGCACTC	0.617																																																	0													53.0	54.0	53.0					19																	10402778		2203	4300	6503	SO:0001819	synonymous_variant	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.741G>A	19.37:g.10402778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.V247	ENST00000221980.4	37	c.741	CCDS12233.1	19																																																																																			ICAM5	-	NULL		0.617	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	G	NM_003259		10402778	+1	no_errors	ENST00000221980	ensembl	human	known	70_37	silent	SNP	1.000	A
ICAM3	3385	genome.wustl.edu	37	19	10446430	10446430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10446430G>C	ENST00000160262.5	-	3	774	c.566C>G	c.(565-567)tCa>tGa	p.S189*	ICAM3_ENST00000589261.1_Nonsense_Mutation_p.S112*|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	189	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TGTGCGGCATGAGAAAGGGGC	0.662																																																	0													35.0	30.0	31.0					19																	10446430		2203	4300	6503	SO:0001587	stop_gained	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.566C>G	19.37:g.10446430G>C	ENSP00000160262:p.Ser189*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PD68	Nonsense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.S189*	ENST00000160262.5	37	c.566	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524655	0.85600	.	.	ENSG00000076662	ENST00000160262	.	.	.	4.98	4.98	0.66077	.	0.486052	0.20231	N	0.096473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.7764	14.1117	0.65126	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000160262:S189X	S	-	2	0	ICAM3	10307430	0.992000	0.36948	0.691000	0.30163	0.510000	0.34073	3.231000	0.51294	2.479000	0.83701	0.555000	0.69702	TCA	ICAM3	-	pfscan_Ig-like		0.662	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	G			10446430	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	nonsense	SNP	0.951	C
IDH3B	3420	genome.wustl.edu	37	20	2639177	2639177	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:2639177G>A	ENST00000380843.4	-	0	1408				IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						ACCTGTGGGGGAGAATCATCA	0.562																																																	0													83.0	77.0	79.0					20																	2639177		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3420				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.*220C>T	20.37:g.2639177G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	RNA	SNP	-	NULL	ENST00000380843.4	37	NULL	CCDS13032.1	20																																																																																			IDH3B	-	-		0.562	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	G			2639177	-1	no_errors	ENST00000488299	ensembl	human	known	70_37	rna	SNP	1.000	A
IDO2	169355	genome.wustl.edu	37	8	39847293	39847293	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:39847293C>G	ENST00000389060.4	+	7	603	c.603C>G	c.(601-603)ctC>ctG	p.L201L	IDO2_ENST00000502986.2_Silent_p.L214L|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	201					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AGGCCCTGCTCCAAGCCCTGC	0.512											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69.0	70.0	70.0					8																	39847293		2024	4200	6224	SO:0001819	synonymous_variant	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.603C>G	8.37:g.39847293C>G		Somatic	889	WXS	Illumina HiSeq	Phase_IV	A4UD41	Silent	SNP	pfam_Indolamine_dOase	p.L214	ENST00000389060.4	37	c.642		8																																																																																			IDO2	-	pfam_Indolamine_dOase		0.512	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	C	NM_194294		39847293	+1	no_errors	ENST00000502986	ensembl	human	known	70_37	silent	SNP	0.119	G
IDO2	169355	genome.wustl.edu	37	8	39862883	39862883	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:39862883G>A	ENST00000389060.4	+	8	705	c.705G>A	c.(703-705)cgG>cgA	p.R235R	IDO2_ENST00000502986.2_Silent_p.R248R|IDO2_ENST00000343295.4_Intron			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	235			R -> W (reduced catalytic activity; dbSNP:rs10109853). {ECO:0000269|PubMed:17671174}.		cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGGCATCCGGATCTTTCTCT	0.398																																																	0													183.0	157.0	165.0					8																	39862883		1884	4113	5997	SO:0001819	synonymous_variant	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.705G>A	8.37:g.39862883G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4UD41	Silent	SNP	pfam_Indolamine_dOase	p.R248	ENST00000389060.4	37	c.744		8																																																																																			IDO2	-	pfam_Indolamine_dOase		0.398	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	G	NM_194294		39862883	+1	no_errors	ENST00000502986	ensembl	human	known	70_37	silent	SNP	1.000	A
IER5	51278	genome.wustl.edu	37	1	181058848	181058848	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:181058848C>T	ENST00000367577.4	+	1	1211	c.810C>T	c.(808-810)atC>atT	p.I270I	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	270										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CTAACCTCATCAGCATCTTCG	0.652																																																	0													38.0	38.0	38.0					1																	181058848		2202	4299	6501	SO:0001819	synonymous_variant	51278			BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.810C>T	1.37:g.181058848C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Silent	SNP	pfam_IER	p.I270	ENST00000367577.4	37	c.810	CCDS1343.1	1																																																																																			IER5	-	pfam_IER		0.652	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5	HGNC	protein_coding	OTTHUMT00000085142.1	C	NM_016545		181058848	+1	no_errors	ENST00000367577	ensembl	human	known	70_37	silent	SNP	0.991	T
IFIT1B	439996	genome.wustl.edu	37	10	91143935	91143935	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:91143935C>T	ENST00000371809.3	+	2	945	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	289										endometrium(2)|large_intestine(3)|lung(8)	13						CTTCCTGCATCACCAAATGGG	0.463																																																	0													102.0	104.0	104.0					10																	91143935		2203	4300	6503	SO:0001583	missense	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.865C>T	10.37:g.91143935C>T	ENSP00000360874:p.His289Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E245	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H289Y	ENST00000371809.3	37	c.865	CCDS31242.1	10	.	.	.	.	.	.	.	.	.	.	C	7.918	0.737869	0.15574	.	.	ENSG00000204010	ENST00000371809	T	0.34667	1.35	4.16	3.24	0.37175	Tetratricopeptide-like helical (1);	0.476732	0.22318	N	0.061643	T	0.31295	0.0792	M	0.62088	1.915	0.33769	D	0.622873	B	0.19200	0.034	B	0.20384	0.029	T	0.35773	-0.9775	10	0.09843	T	0.71	.	10.1651	0.42875	0.0:0.9004:0.0:0.0996	.	289	Q5T764	IFT1B_HUMAN	Y	289	ENSP00000360874:H289Y	ENSP00000360874:H289Y	H	+	1	0	IFIT1B	91133915	0.994000	0.37717	1.000000	0.80357	0.476000	0.33039	0.503000	0.22610	0.920000	0.36970	0.557000	0.71058	CAC	IFIT1B	-	NULL		0.463	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	C	NM_001010987		91143935	+1	no_errors	ENST00000371809	ensembl	human	known	70_37	missense	SNP	1.000	T
IFITM10	402778	genome.wustl.edu	37	11	1769107	1769107	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1769107C>G	ENST00000340134.4	-	2	475	c.327G>C	c.(325-327)aaG>aaC	p.K109N	IFITM10_ENST00000482459.1_5'UTR|RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R309T	NM_001170820.3	NP_001164291.2	A6NMD0	IFM10_HUMAN	interferon induced transmembrane protein 10	109					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCTTGCTGCTCTTGGACTCCA	0.701																																																	0													68.0	69.0	68.0					11																	1769107		692	1591	2283	SO:0001583	missense	402778				CCDS53593.1, CCDS53593.2	11p15.5	2011-05-06			ENSG00000244242	ENSG00000244242			40022	protein-coding gene	gene with protein product							Standard	NM_001170820		Approved		uc021qbs.2	A6NMD0	OTTHUMG00000043933	ENST00000340134.4:c.327G>C	11.37:g.1769107C>G	ENSP00000344430:p.Lys109Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEU7	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.K109N	ENST00000340134.4	37	c.327	CCDS53593.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.56|17.56	3.420182|3.420182	0.62622|0.62622	.|.	.|.	ENSG00000244242|ENSG00000250644	ENST00000382123;ENST00000340134|ENST00000427721	T|.	0.52526|.	0.66|.	2.6|2.6	1.63|1.63	0.23807|0.23807	.|.	0.177209|.	0.35708|.	U|.	0.003038|.	T|T	0.33265|0.33265	0.0857|0.0857	N|N	0.14661|0.14661	0.345|0.345	0.37426|0.37426	D|D	0.913828|0.913828	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.12993|0.12993	-1.0526|-1.0526	8|5	0.59425|.	D|.	0.04|.	.|.	6.0679|6.0679	0.19873|0.19873	0.0:0.7431:0.0:0.2569|0.0:0.7431:0.0:0.2569	.|.	.|.	.|.	.|.	N|T	11;109|309	ENSP00000344430:K109N|.	ENSP00000344430:K109N|.	K|R	-|-	3|2	2|0	IFITM10|RP11-295K3.1	1725683|1725683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	0.688000|0.688000	0.25422|0.25422	0.401000|0.401000	0.25424|0.25424	0.306000|0.306000	0.20318|0.20318	AAG|AGA	IFITM10	-	NULL		0.701	IFITM10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IFITM10	HGNC	protein_coding	OTTHUMT00000102341.5	C	NM_001170820		1769107	-1	no_errors	ENST00000340134	ensembl	human	known	70_37	missense	SNP	1.000	G
IFNGR2	3460	genome.wustl.edu	37	21	34783822	34783822	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:34783822C>G	ENST00000290219.6	+	2	721				IFNGR2_ENST00000381995.1_Intron|IFNGR2_ENST00000405436.1_Intron	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	ccctcatcctcagagtccgtg	0.532																																																	0																																										SO:0001627	intron_variant	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.74-3373C>G	21.37:g.34783822C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTL5	Missense_Mutation	SNP	NULL	p.Q68E	ENST00000290219.6	37	c.202	CCDS33544.1	21																																																																																			IFNGR2	-	NULL		0.532	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR2	HGNC	protein_coding	OTTHUMT00000139916.1	C			34783822	+1	no_errors	ENST00000439213	ensembl	human	known	70_37	missense	SNP	0.000	G
IFRD2	7866	genome.wustl.edu	37	3	50326103	50326103	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:50326103C>G	ENST00000429673.2	-	10	1254	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	IFRD2_ENST00000417626.2_Missense_Mutation_p.E355Q|IFRD2_ENST00000436390.1_Missense_Mutation_p.E355Q|IFRD2_ENST00000336089.4_Missense_Mutation_p.E521Q|IFRD2_ENST00000484043.1_5'Flank			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	419						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TAGAGCACCTCAAAGCCGAAG	0.617																																																	0													69.0	74.0	72.0					3																	50326103		2132	4239	6371	SO:0001583	missense	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1255G>C	3.37:g.50326103C>G	ENSP00000398971:p.Glu419Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVB4|Q9UJ88	Missense_Mutation	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.E521Q	ENST00000429673.2	37	c.1561	CCDS46831.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012709	0.93346	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.53206	0.67;0.67;0.64;0.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.73534	-0.3952	10	0.66056	D	0.02	-20.3608	17.5464	0.87863	0.0:1.0:0.0:0.0	.	419;521	Q12894;Q9UJ88	IFRD2_HUMAN;.	Q	355;355;521;419	ENSP00000402849:E355Q;ENSP00000392316:E355Q;ENSP00000336936:E521Q;ENSP00000398971:E419Q	ENSP00000336936:E521Q	E	-	1	0	IFRD2	50301107	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	7.233000	0.78125	2.826000	0.97356	0.655000	0.94253	GAG	IFRD2	-	NULL		0.617	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		C	NM_006764		50326103	-1	no_errors	ENST00000336089	ensembl	human	known	70_37	missense	SNP	1.000	G
IFT172	26160	genome.wustl.edu	37	2	27700992	27700992	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27700992C>T	ENST00000260570.3	-	11	1140	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	IFT172_ENST00000359466.6_Missense_Mutation_p.R346Q|IFT172_ENST00000416524.2_Missense_Mutation_p.R325Q|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	346					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAGCACCACTCGGGTTCCTGA	0.498																																																	0													201.0	182.0	189.0					2																	27700992		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1037G>A	2.37:g.27700992C>T	ENSP00000260570:p.Arg346Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.R346Q	ENST00000260570.3	37	c.1037	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685013	0.68157	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.23147	1.92;1.92;1.92	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.76838	2.35	0.80722	D	1	P;P;P	0.46656	0.812;0.882;0.882	B;B;B	0.37304	0.103;0.178;0.246	T	0.16217	-1.0410	10	0.27785	T	0.31	-5.6862	18.993	0.92801	0.0:1.0:0.0:0.0	.	346;346;346	A5PKZ0;Q9UG01-2;Q9UG01	.;.;IF172_HUMAN	Q	346;346;325	ENSP00000260570:R346Q;ENSP00000352443:R346Q;ENSP00000407408:R325Q	ENSP00000260570:R346Q	R	-	2	0	IFT172	27554496	1.000000	0.71417	0.848000	0.33437	0.530000	0.34684	5.730000	0.68546	2.839000	0.97877	0.650000	0.86243	CGA	IFT172	-	superfamily_WD40_repeat_dom		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27700992	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	0.993	T
IFT27	11020	genome.wustl.edu	37	22	37171857	37171857	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:37171857G>C	ENST00000433985.2	-	0	315				IFT27_ENST00000340630.5_5'UTR|IFT27_ENST00000476548.1_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27						small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAAGGTGGGGAGGGGAGGGC	0.721																																																	0																																										SO:0001623	5_prime_UTR_variant	11020			Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.-106C>G	22.37:g.37171857G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60897	RNA	SNP	-	NULL	ENST00000433985.2	37	NULL	CCDS54523.1	22																																																																																			IFT27	-	-		0.721	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT27	HGNC	protein_coding		G	NM_006860		37171857	-1	no_errors	ENST00000476548	ensembl	human	known	70_37	rna	SNP	0.000	C
IFT27	11020	genome.wustl.edu	37	22	37172223	37172223	+	5'Flank	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:37172223C>G	ENST00000433985.2	-	0	0				IFT27_ENST00000340630.5_5'Flank|IFT27_ENST00000476548.1_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27						small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCCACCCTCAAGGTCTCAC	0.537																																																	0																																										SO:0001631	upstream_gene_variant	11020			Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544		22.37:g.37172223C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	O60897	RNA	SNP	-	NULL	ENST00000433985.2	37	NULL	CCDS54523.1	22																																																																																			IFT27	-	-		0.537	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT27	HGNC	protein_coding		C	NM_006860		37172223	-1	no_errors	ENST00000476548	ensembl	human	known	70_37	rna	SNP	0.011	G
IFT46	56912	genome.wustl.edu	37	11	118425999	118425999	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:118425999G>A	ENST00000264021.3	-	5	642	c.224C>T	c.(223-225)tCt>tTt	p.S75F	IFT46_ENST00000530872.1_Missense_Mutation_p.S126F|IFT46_ENST00000264020.2_Missense_Mutation_p.S126F	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	75					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AATTTCAGCAGAAACTGGCAA	0.502																																																	0													110.0	107.0	108.0					11																	118425999		2200	4295	6495	SO:0001583	missense	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.224C>T	11.37:g.118425999G>A	ENSP00000264021:p.Ser75Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0F6|Q9H6V5	Missense_Mutation	SNP	pfam_Intraflagellar_transp_cmplxB	p.S126F	ENST00000264021.3	37	c.377	CCDS53718.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606797	0.87157	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156;ENST00000534114;ENST00000528378	T;T;T;T;T;T;T	0.56275	0.67;0.66;0.66;0.67;0.67;0.47;0.5	5.73	5.73	0.89815	.	0.110163	0.64402	D	0.000019	T	0.75953	0.3920	M	0.82716	2.605	0.51767	D	0.999935	D;D;D	0.71674	0.998;0.996;0.996	D;P;D	0.68943	0.961;0.832;0.914	T	0.78677	-0.2111	10	0.87932	D	0	1.0173	19.9025	0.96993	0.0:0.0:1.0:0.0	.	126;75;126	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	F	75;126;126;75;75;126;75	ENSP00000264021:S75F;ENSP00000264020:S126F;ENSP00000432384:S126F;ENSP00000435826:S75F;ENSP00000434175:S75F;ENSP00000432982:S126F;ENSP00000435278:S75F	ENSP00000264020:S126F	S	-	2	0	IFT46	117931209	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.882000	0.69714	2.722000	0.93159	0.655000	0.94253	TCT	IFT46	-	pfam_Intraflagellar_transp_cmplxB		0.502	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	HGNC	protein_coding	OTTHUMT00000389627.1	G	NM_020153		118425999	-1	no_errors	ENST00000264020	ensembl	human	known	70_37	missense	SNP	0.997	A
IGSF10	285313	genome.wustl.edu	37	3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:151154847C>G	ENST00000282466.3	-	6	7501	c.7502G>C	c.(7501-7503)aGa>aCa	p.R2501T	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2501	Ig-like C2-type 11.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393																																																	0													155.0	150.0	152.0					3																	151154847		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7502G>C	3.37:g.151154847C>G	ENSP00000282466:p.Arg2501Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R2501T	ENST00000282466.3	37	c.7502	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479231	0.63849	.	.	ENSG00000152580	ENST00000282466	T	0.66280	-0.2	5.3	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139684	0.33457	N	0.004888	T	0.67505	0.2900	L	0.41027	1.25	0.50171	D	0.999857	D;D	0.76494	0.999;0.995	D;D	0.71870	0.975;0.928	T	0.62914	-0.6753	10	0.22109	T	0.4	.	11.5878	0.50929	0.0:0.806:0.1245:0.0695	.	2501;528	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	T	2501	ENSP00000282466:R2501T	ENSP00000282466:R2501T	R	-	2	0	IGSF10	152637537	0.554000	0.26522	0.956000	0.39512	0.945000	0.59286	2.450000	0.44943	1.334000	0.45468	0.655000	0.94253	AGA	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151154847	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	1.000	G
IGSF10	285313	genome.wustl.edu	37	3	151166624	151166624	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:151166624C>G	ENST00000282466.3	-	4	1144	c.1145G>C	c.(1144-1146)aGt>aCt	p.S382T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	382					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAGAATCACTGTACAAAGC	0.393																																																	0													85.0	79.0	81.0					3																	151166624		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1145G>C	3.37:g.151166624C>G	ENSP00000282466:p.Ser382Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S382T	ENST00000282466.3	37	c.1145	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961153	0.74016	.	.	ENSG00000152580	ENST00000282466	D	0.83506	-1.73	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000027	D	0.90741	0.7094	M	0.72894	2.215	0.51012	D	0.999904	D	0.89917	1.0	D	0.83275	0.996	D	0.90257	0.4298	10	0.46703	T	0.11	.	19.113	0.93326	0.0:1.0:0.0:0.0	.	382	Q6WRI0	IGS10_HUMAN	T	382	ENSP00000282466:S382T	ENSP00000282466:S382T	S	-	2	0	IGSF10	152649314	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.487000	0.81328	2.524000	0.85096	0.650000	0.86243	AGT	IGSF10	-	NULL		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151166624	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	1.000	G
IKBKB	3551	genome.wustl.edu	37	8	42174305	42174305	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:42174305G>C	ENST00000520810.1	+	11	1194	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.L334F|IKBKB_ENST00000416505.2_Missense_Mutation_p.L277F|IKBKB_ENST00000379708.3_Missense_Mutation_p.L113F	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	336					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGCAGAGCTTGAAGGCCAGAA	0.567																																																	0													83.0	74.0	77.0					8																	42174305		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1008G>C	8.37:g.42174305G>C	ENSP00000430684:p.Leu336Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L336F	ENST00000520810.1	37	c.1008	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241759	0.79912	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.47	-7.88	0.01178	Ubiquitin supergroup (1);	0.145081	0.46758	D	0.000267	T	0.66307	0.2776	M	0.69358	2.11	0.51012	D	0.999906	P;D;P;D;P;D	0.58620	0.883;0.983;0.843;0.971;0.651;0.964	B;D;B;P;P;P	0.66351	0.34;0.943;0.295;0.84;0.483;0.49	T	0.75932	-0.3143	10	0.37606	T	0.19	.	17.9369	0.89015	0.1266:0.1038:0.7697:0.0	.	277;334;113;287;336;336	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	F	336;277;334;113	ENSP00000430684:L336F;ENSP00000404920:L277F;ENSP00000430868:L334F;ENSP00000369030:L113F	ENSP00000369030:L113F	L	+	3	2	IKBKB	42293462	0.493000	0.26035	0.844000	0.33320	0.988000	0.76386	-0.321000	0.08018	-1.260000	0.02465	-0.345000	0.07892	TTG	IKBKB	-	pfscan_Ubiquitin_supergroup		0.567	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	G			42174305	+1	no_errors	ENST00000520810	ensembl	human	known	70_37	missense	SNP	0.966	C
IL13RA1	3597	genome.wustl.edu	37	X	117925733	117925733	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117925733G>A	ENST00000371666.3	+	11	1267	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	IL13RA1_ENST00000371637.3_Silent_p.K199K	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	400					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGCACTGGAAGAAGTACGACA	0.388																																																	0													179.0	153.0	162.0					X																	117925733		2203	4300	6503	SO:0001819	synonymous_variant	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1200G>A	X.37:g.117925733G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.K400	ENST00000371666.3	37	c.1200	CCDS14573.1	X																																																																																			IL13RA1	-	NULL		0.388	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	G	NM_001560		117925733	+1	no_errors	ENST00000371666	ensembl	human	known	70_37	silent	SNP	1.000	A
IL17C	27189	genome.wustl.edu	37	16	88705630	88705630	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:88705630C>T	ENST00000244241.4	+	2	297	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	83					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GAGAGGCCCTCAGCTACGACC	0.677																																																	0													24.0	32.0	29.0					16																	88705630		2171	4280	6451	SO:0001583	missense	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.248C>T	16.37:g.88705630C>T	ENSP00000244241:p.Ser83Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.S83L	ENST00000244241.4	37	c.248	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910947	0.33721	.	.	ENSG00000124391	ENST00000244241	T	0.52983	0.64	5.05	-8.69	0.00855	.	1.694970	0.03464	N	0.212622	T	0.17195	0.0413	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08700	-1.0709	10	0.26408	T	0.33	0.2013	0.0368	0.00007	0.3069:0.179:0.2033:0.3108	.	83	Q9P0M4	IL17C_HUMAN	L	83	ENSP00000244241:S83L	ENSP00000244241:S83L	S	+	2	0	IL17C	87233131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.704000	0.01898	-1.393000	0.02079	0.561000	0.74099	TCA	IL17C	-	pfam_Interleukin-17		0.677	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	C	NM_013278		88705630	+1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	0.000	T
IL1A	3552	genome.wustl.edu	37	2	113535661	113535661	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:113535661G>A	ENST00000263339.3	-	6	673	c.518C>T	c.(517-519)tCa>tTa	p.S173L		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	173					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	ATCCTTTGATGACTTATAAGC	0.353																																																	0													132.0	123.0	126.0					2																	113535661		2203	4300	6503	SO:0001583	missense	3552			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.518C>T	2.37:g.113535661G>A	ENSP00000263339:p.Ser173Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QF9|Q7RU02	Missense_Mutation	SNP	pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1	p.S173L	ENST00000263339.3	37	c.518	CCDS2101.1	2	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365317	0.61513	.	.	ENSG00000115008	ENST00000263339	T	0.20598	2.06	5.48	-3.18	0.05186	.	1.125730	0.06769	N	0.783180	T	0.20740	0.0499	M	0.80746	2.51	0.09310	N	1	P	0.39847	0.691	B	0.33454	0.164	T	0.30822	-0.9965	10	0.54805	T	0.06	-23.8437	4.4969	0.11842	0.4406:0.0:0.221:0.3384	.	173	P01583	IL1A_HUMAN	L	173	ENSP00000263339:S173L	ENSP00000263339:S173L	S	-	2	0	IL1A	113252132	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	2.008000	0.40893	-0.413000	0.07507	-0.150000	0.13652	TCA	IL1A	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB		0.353	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	G	NM_000575		113535661	-1	no_errors	ENST00000263339	ensembl	human	known	70_37	missense	SNP	0.000	A
IL1RAPL2	26280	genome.wustl.edu	37	X	104512091	104512091	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:104512091G>C	ENST00000372582.1	+	5	1320	c.564G>C	c.(562-564)tgG>tgC	p.W188C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.W188C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	188	Ig-like C2-type 2.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAAAATGTGGAGAAGCATAA	0.333																																																	0													87.0	81.0	83.0					X																	104512091		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.564G>C	X.37:g.104512091G>C	ENSP00000361663:p.Trp188Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.W188C	ENST00000372582.1	37	c.564	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582086	0.65992	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.77098	-1.07;-1.07	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	D	0.88596	0.6479	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88852	0.3320	10	0.48119	T	0.1	.	17.4286	0.87533	0.0:0.0:1.0:0.0	.	188	Q9NP60	IRPL2_HUMAN	C	188	ENSP00000361663:W188C;ENSP00000344976:W188C	ENSP00000344976:W188C	W	+	3	0	IL1RAPL2	104398747	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.210000	0.89753	2.330000	0.79161	0.513000	0.50165	TGG	IL1RAPL2	-	smart_Ig_sub,pfscan_Ig-like		0.333	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	G	NM_017416		104512091	+1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	1.000	C
IL6ST	3572	genome.wustl.edu	37	5	55265471	55265471	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:55265471C>G	ENST00000381298.2	-	4	589	c.277G>C	c.(277-279)Gat>Cat	p.D93H	IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.D93H|IL6ST_ENST00000536319.1_Missense_Mutation_p.D93H|IL6ST_ENST00000522633.2_Missense_Mutation_p.D93H|IL6ST_ENST00000336909.5_Missense_Mutation_p.D93H|IL6ST_ENST00000381287.4_Missense_Mutation_p.D93H|IL6ST_ENST00000381294.3_Missense_Mutation_p.D93H|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	93	Ig-like C2-type.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAGCTATATCTGTAAAGGTG	0.333			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													109.0	99.0	102.0					5																	55265471		2203	4299	6502	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.277G>C	5.37:g.55265471C>G	ENSP00000370698:p.Asp93His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D93H	ENST00000381298.2	37	c.277	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404031	0.62288	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.86	-9.62	0.00547	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	1.064340	0.07146	N	0.848156	T	0.76118	0.3943	L	0.43152	1.355	0.30988	N	0.721713	P;D;P	0.58268	0.798;0.982;0.782	P;P;P	0.55667	0.701;0.674;0.781	T	0.77219	-0.2668	10	0.39692	T	0.17	.	14.3793	0.66900	0.0:0.6608:0.102:0.2372	.	93;93;93	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	H	93	ENSP00000370698:D93H;ENSP00000338799:D93H;ENSP00000370694:D93H;ENSP00000370687:D93H;ENSP00000444456:D93H;ENSP00000435399:D93H	ENSP00000338799:D93H	D	-	1	0	IL6ST	55301228	0.003000	0.15002	0.053000	0.19242	0.931000	0.56810	-0.640000	0.05440	-1.407000	0.02043	-0.225000	0.12378	GAT	IL6ST	-	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3		0.333	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	C	NM_002184		55265471	-1	no_errors	ENST00000336909	ensembl	human	known	70_37	missense	SNP	0.040	G
ILK	3611	genome.wustl.edu	37	11	6631824	6631824	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6631824G>A	ENST00000396751.2	+	12	1797	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000420936.2_Silent_p.E447E|ILK_ENST00000299421.4_Silent_p.E447E|ILK_ENST00000528995.1_Silent_p.E386E|ILK_ENST00000537806.1_Silent_p.E313E	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	447					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTATCCTTGAGAAGATGCAGG	0.517																																																	0													85.0	87.0	86.0					11																	6631824		2201	4296	6497	SO:0001819	synonymous_variant	3611			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1341G>A	11.37:g.6631824G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E447	ENST00000396751.2	37	c.1341	CCDS7768.1	11																																																																																			ILK	-	superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase		0.517	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	G	NM_004517		6631824	+1	no_errors	ENST00000299421	ensembl	human	known	70_37	silent	SNP	0.999	A
IMPAD1	54928	genome.wustl.edu	37	8	57905782	57905782	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:57905782G>C	ENST00000262644.4	-	1	621	c.363C>G	c.(361-363)ctC>ctG	p.L121L		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	121					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|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)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGGCGGTCTTGAGCAGGTAGA	0.647																																																	0													55.0	49.0	51.0					8																	57905782		2201	4300	6501	SO:0001819	synonymous_variant	54928				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.363C>G	8.37:g.57905782G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NVY7	Silent	SNP	pfam_Inositol_monophosphatase	p.L121	ENST00000262644.4	37	c.363	CCDS6169.1	8																																																																																			IMPAD1	-	pfam_Inositol_monophosphatase		0.647	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPAD1	HGNC	protein_coding	OTTHUMT00000378665.1	G	NM_017813		57905782	-1	no_errors	ENST00000262644	ensembl	human	known	70_37	silent	SNP	0.999	C
NDUFAF3	25915	genome.wustl.edu	37	3	49061967	49061967	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49061967G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.S495F|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CTGGGCTGAGGACGTTCTCTT	0.572																																																	0													127.0	116.0	119.0					3																	49061967		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49061967G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_Cysta_beta_synth_core,pirsf_IMP_DH,tigrfam_IMP_DH	p.S495F	ENST00000326925.6	37	c.1484	CCDS2784.1	3	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127760	0.20959	.	.	ENSG00000178035	ENST00000326739	T	0.79454	-1.27	5.68	5.68	0.88126	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.230275	0.42548	D	0.000689	T	0.77850	0.4192	M	0.76328	2.33	0.40504	D	0.980671	B	0.15473	0.013	B	0.28784	0.094	T	0.76269	-0.3021	10	0.66056	D	0.02	-19.6144	10.261	0.43427	0.1467:0.0:0.8533:0.0	.	495	P12268	IMDH2_HUMAN	F	495	ENSP00000321584:S495F	ENSP00000321584:S495F	S	-	2	0	IMPDH2	49036971	0.576000	0.26700	1.000000	0.80357	0.982000	0.71751	2.081000	0.41596	2.670000	0.90874	0.655000	0.94253	TCC	IMPDH2	-	pfam_IMP_DH_GMPRt,pirsf_IMP_DH		0.572	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345683.2	G	NM_199069		49061967	-1	no_errors	ENST00000326739	ensembl	human	known	70_37	missense	SNP	0.999	A
IMPG2	50939	genome.wustl.edu	37	3	101023077	101023077	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:101023077C>T	ENST00000193391.7	-	3	601	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	138					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACACAAATTCATCCAGTAAT	0.408																																																	0													131.0	127.0	128.0					3																	101023077		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.414G>A	3.37:g.101023077C>T	ENSP00000193391:p.Met138Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.M138I	ENST00000193391.7	37	c.414	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024749	0.75390	.	.	ENSG00000081148	ENST00000193391	T	0.76060	-0.99	5.75	5.75	0.90469	.	0.058711	0.64402	D	0.000001	T	0.71031	0.3292	L	0.57536	1.79	0.37964	D	0.933076	B;B	0.22346	0.068;0.068	B;B	0.21708	0.036;0.036	T	0.71513	-0.4570	10	0.59425	D	0.04	-13.9081	12.8456	0.57827	0.0:0.9248:0.0:0.0752	.	138;138	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	I	138	ENSP00000193391:M138I	ENSP00000193391:M138I	M	-	3	0	IMPG2	102505767	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.003000	0.49505	2.716000	0.92895	0.650000	0.86243	ATG	IMPG2	-	NULL		0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			101023077	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	1.000	T
INCENP	3619	genome.wustl.edu	37	11	61897557	61897557	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61897557C>G	ENST00000394818.3	+	4	760	c.558C>G	c.(556-558)ctC>ctG	p.L186L	INCENP_ENST00000278849.4_Silent_p.L186L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	186					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCACCCAGCTCATGTCCACCG	0.602																																																	0													63.0	55.0	58.0					11																	61897557		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.558C>G	11.37:g.61897557C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.L186	ENST00000394818.3	37	c.558	CCDS44624.1	11																																																																																			INCENP	-	NULL		0.602	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	C	NM_020238		61897557	+1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	0.028	G
INPP5D	3635	genome.wustl.edu	37	2	234078039	234078039	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:234078039G>C	ENST00000359570.5	+	16	1608	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	INPP5D_ENST00000538935.1_Missense_Mutation_p.K535N|INPP5D_ENST00000450745.1_Missense_Mutation_p.K300N|INPP5D_ENST00000455936.2_Missense_Mutation_p.K300N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	548					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAAGTGAAAAGAAACTCAGGT	0.512																																					NSCLC(82;1215 1426 16163 20348 41018)												0													52.0	54.0	53.0					2																	234078039		1942	4132	6074	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1608G>C	2.37:g.234078039G>C	ENSP00000352575:p.Lys536Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.K536N	ENST00000359570.5	37	c.1608		2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865463	0.71949	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.37	3.48	0.39840	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	.	.	.	0.47737	D	0.999507	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89250	0.3590	9	0.87932	D	0	.	11.4379	0.50078	0.0893:0.0:0.9107:0.0	.	547;548	Q92835-2;Q92835	.;SHIP1_HUMAN	N	536;535;300;300;169;169;169	ENSP00000352575:K536N;ENSP00000441010:K535N;ENSP00000407916:K300N;ENSP00000404610:K300N;ENSP00000400151:K169N;ENSP00000397421:K169N;ENSP00000405338:K169N	ENSP00000352575:K536N	K	+	3	2	INPP5D	233742104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.398000	0.44486	1.029000	0.39812	0.561000	0.74099	AAG	INPP5D	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.512	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		G	NM_001017915		234078039	+1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	1.000	C
INSIG1	3638	genome.wustl.edu	37	7	155090103	155090103	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:155090103G>C	ENST00000340368.4	+	2	319	c.108G>C	c.(106-108)gaG>gaC	p.E36D	INSIG1_ENST00000342407.5_Missense_Mutation_p.E36D|INSIG1_ENST00000344756.4_Intron|AC144652.1_ENST00000609974.1_lincRNA	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	36					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTTGGGGAGATGATCAACG	0.741																																																	0													7.0	8.0	8.0					7																	155090103		2086	3999	6085	SO:0001583	missense	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.108G>C	7.37:g.155090103G>C	ENSP00000344741:p.Glu36Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	pfam_INSIG_fam	p.E36D	ENST00000340368.4	37	c.108	CCDS5938.1	7	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574951	0.28092	.	.	ENSG00000186480	ENST00000340368;ENST00000425172;ENST00000342407	T;T;T	0.51071	0.72;0.75;0.77	4.27	-8.54	0.00912	.	0.530450	0.19523	N	0.112221	T	0.20536	0.0494	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.05566	-1.0877	10	0.23302	T	0.38	.	9.562	0.39376	0.3845:0.1799:0.4356:0.0	.	36;36	A4D2N1;O15503	.;INSI1_HUMAN	D	36	ENSP00000344741:E36D;ENSP00000414691:E36D;ENSP00000344035:E36D	ENSP00000344741:E36D	E	+	3	2	INSIG1	154721036	0.967000	0.33354	0.002000	0.10522	0.243000	0.25628	0.063000	0.14410	-1.528000	0.01756	0.485000	0.47835	GAG	INSIG1	-	NULL		0.741	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	G	NM_198336		155090103	+1	no_errors	ENST00000340368	ensembl	human	known	70_37	missense	SNP	0.507	C
INSIG2	51141	genome.wustl.edu	37	2	118867466	118867466	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:118867466G>C	ENST00000245787.4	+	0	2452				INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TATTCATTTAGAACAAATAAG	0.239																																																	0																																										SO:0001624	3_prime_UTR_variant	51141			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.*1568G>C	2.37:g.118867466G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5W8|Q8TBI8	RNA	SNP	-	NULL	ENST00000245787.4	37	NULL	CCDS2122.1	2																																																																																			INSIG2	-	-		0.239	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	G	NM_016133		118867466	+1	no_errors	ENST00000471186	ensembl	human	known	70_37	rna	SNP	1.000	C
INTS3	65123	genome.wustl.edu	37	1	153735821	153735821	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:153735821C>G	ENST00000318967.2	+	16	2317	c.1749C>G	c.(1747-1749)ctC>ctG	p.L583L	INTS3_ENST00000456435.1_Silent_p.L377L|INTS3_ENST00000435409.2_Silent_p.L583L|INTS3_ENST00000512605.1_Silent_p.L377L|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	584					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAAAGTACTCCAGCTACAGA	0.522																																																	0													122.0	117.0	119.0					1																	153735821		2203	4300	6503	SO:0001819	synonymous_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1749C>G	1.37:g.153735821C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Int_cplx_su3	p.L583	ENST00000318967.2	37	c.1749	CCDS1052.1	1																																																																																			INTS3	-	NULL		0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	C	NM_023015		153735821	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	silent	SNP	0.999	G
IPO5	3843	genome.wustl.edu	37	13	98664577	98664577	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:98664577G>A	ENST00000490680.1	+	18	2198	c.2133G>A	c.(2131-2133)ctG>ctA	p.L711L	IPO5_ENST00000539640.1_Silent_p.L586L|IPO5_ENST00000261574.5_Silent_p.L729L			O00410	IPO5_HUMAN	importin 5	711					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TCCCTTTACTGAAATTTTATT	0.378																																																	0													132.0	125.0	128.0					13																	98664577		2203	4300	6503	SO:0001819	synonymous_variant	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2133G>A	13.37:g.98664577G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.L729	ENST00000490680.1	37	c.2187		13																																																																																			IPO5	-	superfamily_ARM-type_fold		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	G	NM_002271		98664577	+1	no_errors	ENST00000261574	ensembl	human	known	70_37	silent	SNP	1.000	A
IPO9	55705	genome.wustl.edu	37	1	201835972	201835972	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:201835972C>G	ENST00000361565.4	+	15	1809	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	580					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAGAGGTCCTCAACCTGGTGA	0.522																																																	0													159.0	149.0	153.0					1																	201835972		2203	4300	6503	SO:0001819	synonymous_variant	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1740C>G	1.37:g.201835972C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L580	ENST00000361565.4	37	c.1740	CCDS1415.1	1																																																																																			IPO9	-	superfamily_ARM-type_fold		0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201835972	+1	no_errors	ENST00000361565	ensembl	human	known	70_37	silent	SNP	1.000	G
IQCA1P1	392843	genome.wustl.edu	37	7	150890455	150890455	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150890455C>G	ENST00000602518.1	-	0	398							A6NCM1	IQCAL_HUMAN	IQ motif containing with AAA domain 1 pseudogene 1								ATP binding (GO:0005524)										GGCGACAGGTCGAACAGGTTG	0.587																																																	0																																												392843					7q36.1	2014-04-09	2011-04-28	2011-04-28	ENSG00000183016	ENSG00000278685			22831	other	unknown			"""IQ motif containing with AAA domain 1-like"""	IQCA1L			Standard	XR_426269		Approved	TCAG_9762		A6NCM1	OTTHUMG00000156140		7.37:g.150890455C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000602518.1	37	NULL		7																																																																																			IQCA1P1	-	-		0.587	IQCA1P1-004	KNOWN	basic	processed_transcript	IQCA1P1	HGNC	pseudogene	OTTHUMT00000467767.1	C			150890455	-1	no_errors	ENST00000453127	ensembl	human	known	70_37	rna	SNP	1.000	G
IQGAP1	8826	genome.wustl.edu	37	15	91026761	91026761	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:91026761C>G	ENST00000268182.5	+	29	3848	c.3724C>G	c.(3724-3726)Ctg>Gtg	p.L1242V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L670V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1242	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAGATGTTTCTGGGAGATAA	0.458																																																	0													94.0	87.0	89.0					15																	91026761		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3724C>G	15.37:g.91026761C>G	ENSP00000268182:p.Leu1242Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L1242V	ENST00000268182.5	37	c.3724	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145369	0.21288	.	.	ENSG00000140575	ENST00000268182	T	0.02140	4.43	5.34	4.42	0.53409	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.166929	0.41097	D	0.000959	T	0.02533	0.0077	L	0.47716	1.5	0.44976	D	0.997994	B	0.09022	0.002	B	0.08055	0.003	T	0.50841	-0.8780	10	0.23302	T	0.38	-17.4134	8.7554	0.34643	0.1626:0.7564:0.0:0.0809	.	1242	P46940	IQGA1_HUMAN	V	1242	ENSP00000268182:L1242V	ENSP00000268182:L1242V	L	+	1	2	IQGAP1	88827765	0.724000	0.28038	1.000000	0.80357	0.995000	0.86356	1.364000	0.34171	2.937000	0.99478	0.650000	0.86243	CTG	IQGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.458	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	C	NM_003870		91026761	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	0.995	G
IRGQ	126298	genome.wustl.edu	37	19	44099376	44099376	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44099376C>T	ENST00000602269.1	-	1	300	c.115G>A	c.(115-117)Gag>Aag	p.E39K	IRGQ_ENST00000422989.1_Missense_Mutation_p.E39K|SRRM5_ENST00000607544.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|SRRM5_ENST00000526798.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	39										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCCGTCCCTCGGGGGCCTCG	0.716																																																	0													14.0	16.0	15.0					19																	44099376		2152	4193	6345	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.115G>A	19.37:g.44099376C>T	ENSP00000472250:p.Glu39Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNP3	Missense_Mutation	SNP	NULL	p.E39K	ENST00000602269.1	37	c.115	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856013	0.51376	.	.	ENSG00000167378	ENST00000422989	T	0.49720	0.77	3.43	3.43	0.39272	.	1.390010	0.04892	N	0.449752	T	0.29458	0.0734	N	0.14661	0.345	0.09310	N	0.999999	P	0.47106	0.89	B	0.32090	0.14	T	0.27706	-1.0066	10	0.56958	D	0.05	-7.4873	10.6783	0.45799	0.0:1.0:0.0:0.0	.	39	Q8WZA9	IRGQ_HUMAN	K	39	ENSP00000387535:E39K	ENSP00000387535:E39K	E	-	1	0	IRGQ	48791216	0.980000	0.34600	0.494000	0.27515	0.544000	0.35116	1.314000	0.33597	2.207000	0.71202	0.655000	0.94253	GAG	IRGQ	-	NULL		0.716	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	C	NM_001007561		44099376	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	missense	SNP	0.258	T
IRGC	56269	genome.wustl.edu	37	19	44222731	44222731	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44222731C>T	ENST00000244314.5	+	2	220	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	7						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAAAGTTGCCCGTGGTGCCTG	0.627																																					Colon(189;350 2037 11447 13433 38914)												0													73.0	76.0	75.0					19																	44222731		2203	4300	6503	SO:0001819	synonymous_variant	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.21C>T	19.37:g.44222731C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase	p.P7	ENST00000244314.5	37	c.21	CCDS12629.1	19																																																																																			IRGC	-	NULL		0.627	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	C	NM_019612		44222731	+1	no_errors	ENST00000244314	ensembl	human	known	70_37	silent	SNP	0.000	T
IRS1	3667	genome.wustl.edu	37	2	227660829	227660829	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:227660829C>G	ENST00000305123.5	-	1	3646	c.2626G>C	c.(2626-2628)Gag>Cag	p.E876Q	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	876					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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 fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		tgctgctgctCTCGGGCCCGA	0.612																																																	0													28.0	38.0	34.0					2																	227660829		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2626G>C	2.37:g.227660829C>G	ENSP00000304895:p.Glu876Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E876Q	ENST00000305123.5	37	c.2626	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656965	0.67586	.	.	ENSG00000169047	ENST00000305123	T	0.69926	-0.44	4.96	4.96	0.65561	.	0.067771	0.56097	D	0.000028	T	0.64864	0.2637	L	0.29908	0.895	0.46981	D	0.999271	P	0.47191	0.891	P	0.49047	0.599	T	0.65203	-0.6225	10	0.40728	T	0.16	-9.3555	17.9781	0.89132	0.0:1.0:0.0:0.0	.	876	P35568	IRS1_HUMAN	Q	876	ENSP00000304895:E876Q	ENSP00000304895:E876Q	E	-	1	0	IRS1	227369073	0.999000	0.42202	0.963000	0.40424	0.946000	0.59487	4.332000	0.59279	2.573000	0.86826	0.650000	0.86243	GAG	IRS1	-	NULL		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	C	NM_005544		227660829	-1	no_errors	ENST00000305123	ensembl	human	known	70_37	missense	SNP	1.000	G
ITFG1	81533	genome.wustl.edu	37	16	47292640	47292640	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:47292640G>T	ENST00000320640.6	-	12	1461	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.D298E	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	411						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GCACTACAATGTCCAAGATTC	0.284																																																	0													71.0	72.0	71.0					16																	47292640		2201	4297	6498	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1233C>A	16.37:g.47292640G>T	ENSP00000319918:p.Asp411Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.D411E	ENST00000320640.6	37	c.1233	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627477	0.66901	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.61980	0.06;0.33	5.44	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77490	-0.2568	10	0.59425	D	0.04	-17.7656	9.1505	0.36959	0.2785:0.0:0.7215:0.0	.	298;411	F5GXC5;Q8TB96	.;TIP_HUMAN	E	411;71;156;298	ENSP00000319918:D411E;ENSP00000441062:D298E	ENSP00000319918:D411E	D	-	3	2	ITFG1	45850141	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.244000	0.43124	0.772000	0.33382	0.585000	0.79938	GAC	ITFG1	-	NULL		0.284	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	G	NM_030790		47292640	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA1	3672	genome.wustl.edu	37	5	52243212	52243212	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:52243212G>A	ENST00000282588.6	+	28	3874	c.3416G>A	c.(3415-3417)aGa>aAa	p.R1139K	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1139					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTACCGGGCAGAGTGCCATTA	0.393																																																	0													197.0	183.0	188.0					5																	52243212		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3416G>A	5.37:g.52243212G>A	ENSP00000282588:p.Arg1139Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R1139K	ENST00000282588.6	37	c.3416	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395142	0.25205	.	.	ENSG00000213949	ENST00000282588	T	0.45668	0.89	5.7	2.96	0.34315	.	0.214889	0.49305	D	0.000157	T	0.15435	0.0372	N	0.04746	-0.17	0.23366	N	0.997824	B	0.06786	0.001	B	0.06405	0.002	T	0.31110	-0.9955	10	0.02654	T	1	.	5.8842	0.18872	0.2245:0.1427:0.6328:0.0	.	1139	P56199	ITA1_HUMAN	K	1139	ENSP00000282588:R1139K	ENSP00000282588:R1139K	R	+	2	0	ITGA1	52278969	0.010000	0.17322	1.000000	0.80357	0.709000	0.40893	0.533000	0.23082	0.775000	0.33450	-0.188000	0.12872	AGA	ITGA1	-	NULL		0.393	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52243212	+1	no_errors	ENST00000282588	ensembl	human	known	70_37	missense	SNP	0.991	A
ITGA10	8515	genome.wustl.edu	37	1	145538296	145538296	+	Silent	SNP	C	C	T	rs587695396		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:145538296C>T	ENST00000369304.3	+	23	2998	c.2823C>T	c.(2821-2823)ctC>ctT	p.L941L	ITGA10_ENST00000538811.1_Silent_p.L810L|ITGA10_ENST00000539363.1_Silent_p.L798L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	941					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCCACCTCCTGTTCTCTA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19298	0.0		0.001	False		,,,				2504	0.0																0													149.0	121.0	131.0					1																	145538296		2203	4300	6503	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2823C>T	1.37:g.145538296C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L941	ENST00000369304.3	37	c.2823	CCDS918.1	1																																																																																			ITGA10	-	pfam_Integrin_alpha-2		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	C	NM_003637		145538296	+1	no_errors	ENST00000369304	ensembl	human	known	70_37	silent	SNP	0.895	T
ITGAL	3683	genome.wustl.edu	37	16	30495167	30495167	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30495167G>A	ENST00000356798.6	+	8	922	c.742G>A	c.(742-744)Gag>Aag	p.E248K	ITGAL_ENST00000358164.5_Missense_Mutation_p.E165K|ITGAL_ENST00000433423.2_Intron|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	248	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GTTCCGGGAGGAGCTGGGGGC	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)												0													91.0	88.0	89.0					16																	30495167		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.742G>A	16.37:g.30495167G>A	ENSP00000349252:p.Glu248Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E248K	ENST00000356798.6	37	c.742	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	8.316	0.823284	0.16678	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.83163	-1.69;-1.69	5.96	2.17	0.27698	von Willebrand factor, type A (3);	0.393242	0.21649	N	0.071208	T	0.66877	0.2834	N	0.21324	0.655	0.09310	N	0.999997	B;B	0.12630	0.006;0.001	B;B	0.15484	0.013;0.003	T	0.45977	-0.9224	10	0.06625	T	0.88	.	10.5121	0.44868	0.2609:0.0:0.7391:0.0	.	165;248	Q96HB1;P20701	.;ITAL_HUMAN	K	248;165	ENSP00000349252:E248K;ENSP00000350886:E165K	ENSP00000349252:E248K	E	+	1	0	ITGAL	30402668	0.045000	0.20229	0.008000	0.14137	0.290000	0.27261	0.587000	0.23909	0.732000	0.32470	0.585000	0.79938	GAG	ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	G			30495167	+1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.002	A
ITGAL	3683	genome.wustl.edu	37	16	30518142	30518142	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30518142C>T	ENST00000356798.6	+	21	2653	c.2473C>T	c.(2473-2475)Ccg>Tcg	p.P825S	ITGAL_ENST00000358164.5_Missense_Mutation_p.P741S|ITGAL_ENST00000433423.2_Intron|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCACTTCCCCCCGGGACTCTC	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)												0													129.0	126.0	127.0					16																	30518142		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2473C>T	16.37:g.30518142C>T	ENSP00000349252:p.Pro825Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P825S	ENST00000356798.6	37	c.2473	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.533878	0.00951	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.44083	0.93;0.93	5.2	1.86	0.25419	Integrin alpha-2 (1);	1.128570	0.06770	N	0.783345	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.11235	0.004;0.002	B;B	0.18263	0.021;0.012	T	0.23583	-1.0184	10	0.12430	T	0.62	.	10.468	0.44620	0.5132:0.4868:0.0:0.0	.	741;825	Q96HB1;P20701	.;ITAL_HUMAN	S	825;741	ENSP00000349252:P825S;ENSP00000350886:P741S	ENSP00000349252:P825S	P	+	1	0	ITGAL	30425643	0.000000	0.05858	0.098000	0.21074	0.085000	0.17905	-0.249000	0.08842	0.549000	0.28973	0.437000	0.28790	CCG	ITGAL	-	pfam_Integrin_alpha-2		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	C			30518142	+1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.166	T
ITGAV	3685	genome.wustl.edu	37	2	187465067	187465067	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:187465067C>T	ENST00000261023.3	+	2	459				ITGAV_ENST00000433736.2_Silent_p.L2L|ITGAV_ENST00000374907.3_Intron	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis (GO:0001525)|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 peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CACAAATGCTCCTAGGCACCC	0.463																																					Melanoma(58;108 1995 6081)												0													194.0	164.0	173.0					2																	187465067		692	1591	2283	SO:0001627	intron_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.186-1681C>T	2.37:g.187465067C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L2	ENST00000261023.3	37	c.6	CCDS2292.1	2																																																																																			ITGAV	-	NULL		0.463	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	C	NM_002210		187465067	+1	no_errors	ENST00000433736	ensembl	human	known	70_37	silent	SNP	0.002	T
ITGB4	3691	genome.wustl.edu	37	17	73726397	73726397	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73726397G>C	ENST00000200181.3	+	8	1001	c.814G>C	c.(814-816)Gat>Cat	p.D272H	ITGB4_ENST00000449880.2_Missense_Mutation_p.D272H|ITGB4_ENST00000339591.3_Missense_Mutation_p.D272H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.D272H|ITGB4_ENST00000579662.1_Missense_Mutation_p.D272H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	272	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTATGAGGCTGATGGCGCCAA	0.642																																																	0													77.0	59.0	65.0					17																	73726397		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.814G>C	17.37:g.73726397G>C	ENSP00000200181:p.Asp272His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.D272H	ENST00000200181.3	37	c.814	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459240	0.26248	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.96619	-4.07;-4.07;-4.07	5.41	5.41	0.78517	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.96080	3.765	0.80722	D	1	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	0.99548	1.0965	10	0.87932	D	0	.	19.1991	0.93704	0.0:0.0:1.0:0.0	.	272;272;272;272	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	188;272;272;272	ENSP00000200181:D272H;ENSP00000344079:D272H;ENSP00000400217:D272H	ENSP00000200181:D272H	D	+	1	0	ITGB4	71237992	1.000000	0.71417	0.154000	0.22540	0.097000	0.18754	9.627000	0.98412	2.530000	0.85305	0.563000	0.77884	GAT	ITGB4	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu		0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G			73726397	+1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.998	C
ITGB8	3696	genome.wustl.edu	37	7	20420367	20420367	+	Missense_Mutation	SNP	G	G	C	rs370739263		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:20420367G>C	ENST00000222573.4	+	5	1398	c.714G>C	c.(712-714)gaG>gaC	p.E238D	ITGB8_ENST00000537992.1_Missense_Mutation_p.E103D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	238	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTGAGTTTGAGAAAGCAGTTC	0.443																																																	0								G	ASP/GLU	0,4406		0,0,2203	133.0	121.0	125.0		714	1.1	1.0	7		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB8	NM_002214.2	45	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	238/770	20420367	1,13005	2203	4300	6503	SO:0001583	missense	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.714G>C	7.37:g.20420367G>C	ENSP00000222573:p.Glu238Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D133|B4DHD4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.E238D	ENST00000222573.4	37	c.714	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822958	0.50739	0.0	1.16E-4	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92752	-3.1;-3.1	6.07	1.07	0.20283	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.236221	0.37857	N	0.001911	D	0.88808	0.6537	L	0.42245	1.32	0.09310	N	0.999995	P;P	0.43578	0.807;0.811	P;P	0.45753	0.475;0.492	T	0.81093	-0.1089	10	0.45353	T	0.12	.	10.0273	0.42079	0.6707:0.0:0.3293:0.0	.	238;238	P26012;Q9BUG9	ITB8_HUMAN;.	D	103;238	ENSP00000441561:E103D;ENSP00000222573:E238D	ENSP00000222573:E238D	E	+	3	2	ITGB8	20386892	0.595000	0.26857	0.984000	0.44739	0.914000	0.54420	-0.049000	0.11924	-0.049000	0.13379	-0.136000	0.14681	GAG	ITGB8	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.443	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	G	NM_002214		20420367	+1	no_errors	ENST00000222573	ensembl	human	known	70_37	missense	SNP	0.048	C
ITIH6	347365	genome.wustl.edu	37	X	54784055	54784055	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:54784055G>A	ENST00000218436.6	-	8	2481	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	818	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGTACTTGGGAACCTGAAGT	0.562																																																	0													130.0	117.0	122.0					X																	54784055		2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2452C>T	X.37:g.54784055G>A	ENSP00000218436:p.Pro818Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.P818S	ENST00000218436.6	37	c.2452	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177870	0.06380	.	.	ENSG00000102313	ENST00000218436	T	0.02682	4.2	3.61	1.77	0.24775	.	1.572660	0.06398	U	0.718233	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.48364	-0.9042	10	0.48119	T	0.1	.	5.9381	0.19177	0.3828:0.0:0.6172:0.0	.	818	Q6UXX5	ITH5L_HUMAN	S	818	ENSP00000218436:P818S	ENSP00000218436:P818S	P	-	1	0	ITIH5L	54800780	0.796000	0.28864	0.008000	0.14137	0.025000	0.11179	1.154000	0.31688	0.059000	0.16252	0.466000	0.42574	CCC	ITIH6	-	NULL		0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	G	NM_198510		54784055	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.016	A
JMJD1C	221037	genome.wustl.edu	37	10	64975041	64975041	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:64975041C>T	ENST00000399262.2	-	7	1215	c.997G>A	c.(997-999)Gat>Aat	p.D333N	JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D114N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D151N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D114N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	333					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATATATAATCATATTTTTCC	0.328																																																	0													184.0	160.0	168.0					10																	64975041		1833	4091	5924	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.997G>A	10.37:g.64975041C>T	ENSP00000382204:p.Asp333Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.D333N	ENST00000399262.2	37	c.997	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547941	0.65311	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.6	5.6	0.85130	.	0.186360	0.34531	U	0.003899	T	0.33440	0.0863	L	0.57536	1.79	0.48040	D	0.999579	D;D	0.67145	0.995;0.996	P;P	0.60609	0.797;0.877	T	0.01084	-1.1457	10	0.62326	D	0.03	-9.1172	19.6107	0.95606	0.0:1.0:0.0:0.0	.	333;151	Q15652;A0T124	JHD2C_HUMAN;.	N	333;114;114;151	ENSP00000382204:D333N;ENSP00000384990:D114N;ENSP00000382195:D114N;ENSP00000444682:D151N	ENSP00000382195:D114N	D	-	1	0	JMJD1C	64645047	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.956000	0.49129	2.648000	0.89879	0.655000	0.94253	GAT	JMJD1C	-	NULL		0.328	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	C	NM_004241		64975041	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	missense	SNP	0.999	T
JUP	3728	genome.wustl.edu	37	17	39913930	39913930	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39913930G>A	ENST00000393931.3	-	11	1998	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	JUP_ENST00000393930.1_Missense_Mutation_p.S627L|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.S627L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	627	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGTGGGGCCGAGGCCCCCTC	0.682																																					Colon(16;42 520 6044 17852 28530)												0													26.0	27.0	27.0					17																	39913930		2202	4300	6502	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1880C>T	17.37:g.39913930G>A	ENSP00000377508:p.Ser627Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S627L	ENST00000393931.3	37	c.1880	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057736	0.55325	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.60672	0.17;0.17;0.17	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.132361	0.53938	D	0.000059	T	0.42200	0.1192	L	0.34521	1.04	0.80722	D	1	D	0.59357	0.985	B	0.32724	0.151	T	0.53507	-0.8429	10	0.52906	T	0.07	-10.5587	16.7016	0.85350	0.0:0.0:1.0:0.0	.	627	P14923	PLAK_HUMAN	L	627	ENSP00000377507:S627L;ENSP00000311113:S627L;ENSP00000377508:S627L	ENSP00000311113:S627L	S	-	2	0	JUP	37167456	1.000000	0.71417	0.916000	0.36221	0.224000	0.24922	7.416000	0.80143	2.595000	0.87683	0.561000	0.74099	TCG	JUP	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	G			39913930	-1	no_errors	ENST00000310706	ensembl	human	known	70_37	missense	SNP	0.995	A
KALRN	8997	genome.wustl.edu	37	3	124398421	124398421	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:124398421C>T	ENST00000462213.1	+	3	509	c.285C>T	c.(283-285)ttC>ttT	p.F95F	KALRN_ENST00000360013.3_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000291478.5_Intron			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1340	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGATGTGTTCTGTAACAGTG	0.398																																																	0													271.0	217.0	233.0					3																	124398421		692	1591	2283	SO:0001819	synonymous_variant	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.285C>T	3.37:g.124398421C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	NULL	p.F95	ENST00000462213.1	37	c.285		3																																																																																			KALRN	-	NULL		0.398	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000356377.1	C	NM_003947		124398421	+1	no_errors	ENST00000462213	ensembl	human	putative	70_37	silent	SNP	0.172	T
KANK3	256949	genome.wustl.edu	37	19	8399296	8399296	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:8399296G>A	ENST00000593649.1	-	4	1400	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	KANK3_ENST00000330915.3_Silent_p.L445L			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	445										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGATGGATTTGAGGATGCCTG	0.647																																																	0													54.0	54.0	54.0					19																	8399296		2203	4300	6503	SO:0001819	synonymous_variant	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1335C>T	19.37:g.8399296G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L445	ENST00000593649.1	37	c.1335		19																																																																																			KANK3	-	NULL		0.647	KANK3-002	KNOWN	basic	protein_coding	KANK3	HGNC	protein_coding	OTTHUMT00000461379.1	G	NM_198471		8399296	-1	no_errors	ENST00000593649	ensembl	human	known	70_37	silent	SNP	1.000	A
KANSL2	54934	genome.wustl.edu	37	12	49047778	49047778	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49047778G>A	ENST00000420613.2	-	0	1575				KANSL2_ENST00000550347.1_3'UTR|SNORA2A_ENST00000383885.1_RNA|SNORA34_ENST00000408564.2_RNA|KANSL2_ENST00000553086.1_3'UTR|KANSL2_ENST00000548701.1_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											ATACTTCTTTGAAGAACGAGA	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.*49C>T	12.37:g.49047778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3B5|Q96CV0|Q9NX51	RNA	SNP	-	NULL	ENST00000420613.2	37	NULL	CCDS44869.1	12																																																																																			KANSL2	-	-		0.378	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	G	NM_017822		49047778	-1	no_errors	ENST00000548701	ensembl	human	known	70_37	rna	SNP	0.047	A
KBTBD12	166348	genome.wustl.edu	37	3	127703143	127703143	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:127703143C>T	ENST00000405109.1	+	0	2361				KBTBD12_ENST00000407609.3_3'UTR|KBTBD12_ENST00000343941.4_3'UTR|KBTBD12_ENST00000405256.1_3'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12											endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGGAGGACCTCCTGCTGTTCT	0.557																																																	0													55.0	51.0	53.0					3																	127703143		2203	4300	6503	SO:0001624	3_prime_UTR_variant	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.*22C>T	3.37:g.127703143C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCC6|Q6ZRK1	RNA	SNP	-	NULL	ENST00000405109.1	37	NULL	CCDS33848.2	3																																																																																			KBTBD12	-	-		0.557	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	C	NM_207335		127703143	+1	no_errors	ENST00000476626	ensembl	human	known	70_37	rna	SNP	0.002	T
KCNAB2	8514	genome.wustl.edu	37	1	6154520	6154520	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:6154520C>T	ENST00000164247.1	+	11	1127	c.563C>T	c.(562-564)tCa>tTa	p.S188L	KCNAB2_ENST00000341524.1_Missense_Mutation_p.S188L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.S188L|KCNAB2_ENST00000378083.3_Missense_Mutation_p.S236L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Missense_Mutation_p.S174L|KCNAB2_ENST00000352527.1_Missense_Mutation_p.S174L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.S188L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.S121L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	188					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCACGTCACGCTGGAGC	0.637																																																	0													95.0	77.0	83.0					1																	6154520		2197	4298	6495	SO:0001583	missense	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.563C>T	1.37:g.6154520C>T	ENSP00000164247:p.Ser188Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.S236L	ENST00000164247.1	37	c.707	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.568515	0.96540	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.49	5.49	0.81192	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.99619	4.66	0.80722	D	1	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	0.94839	0.8003	10	0.87932	D	0	-5.7912	18.3811	0.90451	0.0:1.0:0.0:0.0	.	236;174;188;188	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	L	188;174;174;188;188;174;188;236;121	ENSP00000367337:S188L;ENSP00000367332:S174L;ENSP00000400285:S174L;ENSP00000374283:S188L;ENSP00000340824:S188L;ENSP00000318772:S174L;ENSP00000164247:S188L;ENSP00000367323:S236L;ENSP00000396167:S121L	ENSP00000164247:S188L	S	+	2	0	KCNAB2	6077107	1.000000	0.71417	0.487000	0.27428	0.957000	0.61999	7.724000	0.84798	2.583000	0.87209	0.655000	0.94253	TCA	KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.637	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	C	NM_172130		6154520	+1	no_errors	ENST00000378083	ensembl	human	known	70_37	missense	SNP	0.997	T
KCNG2	26251	genome.wustl.edu	37	18	77659102	77659102	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:77659102C>T	ENST00000316249.3	+	2	687	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	229					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGGCCTGGTTCTCCTTCGAGT	0.677																																																	0													47.0	39.0	42.0					18																	77659102		2203	4300	6503	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.687C>T	18.37:g.77659102C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.F229	ENST00000316249.3	37	c.687	CCDS12019.1	18																																																																																			KCNG2	-	pfam_Ion_trans_dom,prints_K_chnl		0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1	C	NM_012283		77659102	+1	no_errors	ENST00000316249	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNH5	27133	genome.wustl.edu	37	14	63246617	63246617	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:63246617G>A	ENST00000322893.7	-	10	2116	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	KCNH5_ENST00000394968.1_Silent_p.I558I|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	616					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCTTCCAGAAGATGTCTCCAA	0.433																																																	0													87.0	74.0	78.0					14																	63246617		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1848C>T	14.37:g.63246617G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JP98	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.I616	ENST00000322893.7	37	c.1848	CCDS9756.1	14																																																																																			KCNH5	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	G	NM_139318		63246617	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	silent	SNP	0.997	A
KCNN3	3782	genome.wustl.edu	37	1	154687435	154687435	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154687435G>A	ENST00000271915.4	-	6	2061	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	KCNN3_ENST00000361147.4_Silent_p.I277I|KCNN3_ENST00000358505.2_Silent_p.I269I	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	587	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGTGTTTATAGATTAACCATG	0.418																																																	0													255.0	218.0	231.0					1																	154687435		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1746C>T	1.37:g.154687435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.I582	ENST00000271915.4	37	c.1746	CCDS30880.1	1																																																																																			KCNN3	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom		0.418	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154687435	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNQ1	3784	genome.wustl.edu	37	11	2869097	2869097	+	Missense_Mutation	SNP	G	G	A	rs397508103		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:2869097G>A	ENST00000155840.5	+	16	2003	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	KCNQ1-AS1_ENST00000440887.2_RNA|KCNQ1_ENST00000335475.5_Missense_Mutation_p.R505K|KCNQ1_ENST00000526095.1_3'UTR	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	632				LHGGSTPGSGGPPREGGAHITQPCGS -> MQQGGPTCNSR SQVVASNE (in Ref. 4; AAM94040). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCCCCCCCAGAGAGGGCGGG	0.697																																																	0													9.0	9.0	9.0					11																	2869097		2133	4222	6355	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1895G>A	11.37:g.2869097G>A	ENSP00000155840:p.Arg632Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R632K	ENST00000155840.5	37	c.1895	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514266	0.04200	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99591	-6.24;-6.24	3.13	2.19	0.27852	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.	.	.	.	D	0.96244	0.8775	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.001;0.014	B;B	0.21708	0.004;0.036	D	0.93791	0.7092	9	0.05959	T	0.93	.	5.0648	0.14576	0.1572:0.2204:0.6223:0.0	.	505;632	Q14D14;P51787	.;KCNQ1_HUMAN	K	632;505	ENSP00000155840:R632K;ENSP00000334497:R505K	ENSP00000155840:R632K	R	+	2	0	KCNQ1	2825673	0.111000	0.22076	0.001000	0.08648	0.001000	0.01503	2.978000	0.49305	0.859000	0.35456	-0.305000	0.09177	AGA	KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C		0.697	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	G	NM_000218		2869097	+1	no_errors	ENST00000155840	ensembl	human	known	70_37	missense	SNP	0.001	A
KCNU1	157855	genome.wustl.edu	37	8	36793338	36793338	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:36793338C>T	ENST00000399881.3	+	27	3387	c.3350C>T	c.(3349-3351)tCa>tTa	p.S1117L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1117					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGTATTATATCATCTCAGATA	0.373																																																	0													121.0	118.0	119.0					8																	36793338		1866	4099	5965	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3350C>T	8.37:g.36793338C>T	ENSP00000382770:p.Ser1117Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.S1117L	ENST00000399881.3	37	c.3350	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507641	0.27036	.	.	ENSG00000215262	ENST00000399881	T	0.34072	1.38	4.59	1.6	0.23607	.	.	.	.	.	T	0.21387	0.0515	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22138	-1.0225	9	0.72032	D	0.01	.	3.34	0.07115	0.2054:0.5806:0.0:0.214	.	1117	A8MYU2	KCNU1_HUMAN	L	1117	ENSP00000382770:S1117L	ENSP00000382770:S1117L	S	+	2	0	KCNU1	36912496	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.126000	0.15769	0.659000	0.30945	0.655000	0.94253	TCA	KCNU1	-	NULL		0.373	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	C	NM_001031836		36793338	+1	no_errors	ENST00000399881	ensembl	human	known	70_37	missense	SNP	0.000	T
KCTD10	83892	genome.wustl.edu	37	12	109893940	109893940	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:109893940C>T	ENST00000228495.6	-	6	987	c.706G>A	c.(706-708)Gag>Aag	p.E236K	KCTD10_ENST00000540411.1_Missense_Mutation_p.E210K|KCTD10_ENST00000540089.1_Missense_Mutation_p.E55K|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.E55K	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	236					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TGTTTCTTCTCAGTGGCATAG	0.468																																																	0													115.0	102.0	107.0					12																	109893940		2203	4300	6503	SO:0001583	missense	83892			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.706G>A	12.37:g.109893940C>T	ENSP00000228495:p.Glu236Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E236K	ENST00000228495.6	37	c.706	CCDS9128.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.514945	0.96402	.	.	ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355	T;T	0.55588	0.6;0.51	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.80847	2.515	0.80722	D	1	D;P;D	0.69078	0.966;0.94;0.997	P;P;D	0.64687	0.852;0.794;0.928	T	0.77528	-0.2554	10	0.87932	D	0	-31.4335	17.0631	0.86552	0.0:1.0:0.0:0.0	.	210;213;236	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	K	236;55;78;55;210;55;55;55;55	ENSP00000228495:E236K;ENSP00000441672:E210K	ENSP00000228495:E236K	E	-	1	0	KCTD10	108378323	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.651000	0.83577	2.586000	0.87340	0.561000	0.74099	GAG	KCTD10	-	NULL		0.468	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	C	NM_031954		109893940	-1	no_errors	ENST00000228495	ensembl	human	known	70_37	missense	SNP	1.000	T
KCTD20	222658	genome.wustl.edu	37	6	36452532	36452532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:36452532G>T	ENST00000373731.2	+	7	1289	c.898G>T	c.(898-900)Gag>Tag	p.E300*	KCTD20_ENST00000544295.1_Nonsense_Mutation_p.E54*|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Nonsense_Mutation_p.E155*|KCTD20_ENST00000449081.2_Nonsense_Mutation_p.E134*	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	300					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAAATATATTGAGAATAGGGA	0.338																																																	0													124.0	145.0	138.0					6																	36452532		2202	4300	6502	SO:0001587	stop_gained	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.898G>T	6.37:g.36452532G>T	ENSP00000362836:p.Glu300*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E300*	ENST00000373731.2	37	c.898	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.060455	0.98635	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	.	.	.	5.53	5.53	0.82687	.	0.128411	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5825	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	X	300;54;134;155	.	ENSP00000362836:E300X	E	+	1	0	KCTD20	36560510	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.652000	0.98499	2.879000	0.98667	0.650000	0.86243	GAG	KCTD20	-	NULL		0.338	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	G	NM_173562		36452532	+1	no_errors	ENST00000373731	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KDELR3	11015	genome.wustl.edu	37	22	38875607	38875607	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38875607C>G	ENST00000216014.4	+	3	374	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V	KDELR3_ENST00000409006.3_Missense_Mutation_p.L68V|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	68					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GGTGGTTTTTCTCCTCTGTGC	0.448																																					Ovarian(11;103 529 24120 28493 32980)												0													227.0	200.0	209.0					22																	38875607		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.202C>G	22.37:g.38875607C>G	ENSP00000216014:p.Leu68Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt	p.L68V	ENST00000216014.4	37	c.202	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052848	0.36181	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.28454	1.61;1.61	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	M	0.70842	2.15	0.80722	D	1	B;B	0.22003	0.01;0.063	B;B	0.30855	0.11;0.121	T	0.42498	-0.9448	10	0.66056	D	0.02	.	3.5725	0.07922	0.218:0.5979:0.0:0.1842	.	68;68	O43731;O43731-2	ERD23_HUMAN;.	V	68	ENSP00000216014:L68V;ENSP00000386918:L68V	ENSP00000216014:L68V	L	+	1	0	KDELR3	37205553	0.979000	0.34478	1.000000	0.80357	0.982000	0.71751	0.923000	0.28757	2.298000	0.77334	0.655000	0.94253	CTC	KDELR3	-	pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt		0.448	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR3	HGNC	protein_coding	OTTHUMT00000331474.1	C			38875607	+1	no_errors	ENST00000409006	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM4B	23030	genome.wustl.edu	37	19	5144297	5144297	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5144297C>T	ENST00000159111.4	+	20	2993	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	KDM4B_ENST00000536461.1_Silent_p.V959V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	925	Tudor 1.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCAGGTGGTCATCACCAAGA	0.672																																																	0													44.0	31.0	36.0					19																	5144297		2197	4296	6493	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2775C>T	19.37:g.5144297C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V925	ENST00000159111.4	37	c.2775	CCDS12138.1	19																																																																																			KDM4B	-	smart_Tudor		0.672	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5144297	+1	no_errors	ENST00000159111	ensembl	human	known	70_37	silent	SNP	0.996	T
KDM4B	23030	genome.wustl.edu	37	19	5150378	5150378	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5150378G>C	ENST00000159111.4	+	22	3249	c.3031G>C	c.(3031-3033)Gag>Cag	p.E1011Q	KDM4B_ENST00000536461.1_Missense_Mutation_p.E1045Q	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1011	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTGGAGTTTGAGGACGGGTC	0.677																																																	0													61.0	46.0	51.0					19																	5150378		2068	4028	6096	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.3031G>C	19.37:g.5150378G>C	ENSP00000159111:p.Glu1011Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E1011Q	ENST00000159111.4	37	c.3031	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453376	0.84209	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.79940	-1.32;-1.32	4.59	4.59	0.56863	Tudor domain (1);	0.201604	0.43260	D	0.000587	D	0.86690	0.5993	M	0.64567	1.98	0.42098	D	0.991321	B;D	0.67145	0.301;0.996	B;P	0.60012	0.117;0.867	D	0.88144	0.2846	10	0.54805	T	0.06	-32.7806	17.3928	0.87437	0.0:0.0:1.0:0.0	.	1045;1011	F5GX28;O94953	.;KDM4B_HUMAN	Q	1011;1045	ENSP00000159111:E1011Q;ENSP00000440495:E1045Q	ENSP00000159111:E1011Q	E	+	1	0	KDM4B	5101378	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.331000	0.72929	2.096000	0.63516	0.491000	0.48974	GAG	KDM4B	-	smart_Tudor		0.677	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	G	NM_015015		5150378	+1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	C
KDM4C	23081	genome.wustl.edu	37	9	6893199	6893199	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:6893199C>G	ENST00000381309.3	+	8	1453	c.888C>G	c.(886-888)gtC>gtG	p.V296V	KDM4C_ENST00000536108.1_Silent_p.V115V|KDM4C_ENST00000543771.1_Silent_p.V296V|KDM4C_ENST00000535193.1_Silent_p.V318V|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_Silent_p.V115V|KDM4C_ENST00000381306.3_Silent_p.V296V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	296	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TTGCTACTGTCAGATGGATTG	0.373																																																	0													106.0	106.0	106.0					9																	6893199		2203	4300	6503	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.888C>G	9.37:g.6893199C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V296	ENST00000381309.3	37	c.888	CCDS6471.1	9																																																																																			KDM4C	-	smart_JmjC_dom,pfscan_JmjC_dom		0.373	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		6893199	+1	no_errors	ENST00000381309	ensembl	human	known	70_37	silent	SNP	1.000	G
KDM5A	5927	genome.wustl.edu	37	12	419064	419064	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:419064C>T	ENST00000399788.2	-	22	3645	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1095K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1095					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTATTAGTTCTTTTACTTTT	0.428			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													83.0	79.0	80.0					12																	419064		1804	4075	5879	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3283G>A	12.37:g.419064C>T	ENSP00000382688:p.Glu1095Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1095K	ENST00000399788.2	37	c.3283	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.573087	0.96553	.	.	ENSG00000073614	ENST00000261253;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.85773	-2.03;-1.84;-1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	M	0.62723	1.935	0.80722	D	1	P;D;D	0.67145	0.562;0.972;0.996	B;P;D	0.67900	0.413;0.776;0.954	D	0.91474	0.5199	10	0.87932	D	0	-22.8894	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1095;1095;1095	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	K	714;1095;1095;714	ENSP00000382688:E1095K;ENSP00000372265:E1095K;ENSP00000440622:E714K	ENSP00000261253:E714K	E	-	1	0	KDM5A	289325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.619000	0.83057	2.795000	0.96236	0.655000	0.94253	GAA	KDM5A	-	NULL		0.428	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		419064	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM5A	5927	genome.wustl.edu	37	12	419125	419125	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:419125C>T	ENST00000399788.2	-	22	3584	c.3222G>A	c.(3220-3222)ctG>ctA	p.L1074L	KDM5A_ENST00000382815.4_Silent_p.L1074L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1074					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCGGGGGCTCAGCACCTACA	0.348			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													53.0	51.0	52.0					12																	419125		1793	4070	5863	SO:0001819	synonymous_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3222G>A	12.37:g.419125C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L1074	ENST00000399788.2	37	c.3222	CCDS41736.1	12																																																																																			KDM5A	-	NULL		0.348	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		419125	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	silent	SNP	0.682	T
KDM6B	23135	genome.wustl.edu	37	17	7748248	7748248	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7748248G>A	ENST00000448097.2	+	0	93				KDM6B_ENST00000254846.5_5'UTR			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B						cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CACGGGTGATGATTGGCTTTC	0.677																																																	0																																										SO:0001623	5_prime_UTR_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.-239G>A	17.37:g.7748248G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ40|Q96G33	RNA	SNP	-	NULL	ENST00000448097.2	37	NULL		17																																																																																			KDM6B	-	-		0.677	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	G	XM_043272		7748248	+1	no_errors	ENST00000571047	ensembl	human	known	70_37	rna	SNP	1.000	A
KIAA0100	9703	genome.wustl.edu	37	17	26962166	26962166	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:26962166C>T	ENST00000528896.2	-	16	2513	c.2439G>A	c.(2437-2439)cgG>cgA	p.R813R	KIAA0100_ENST00000389003.3_Silent_p.R670R|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.R670R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	813						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527																																																	0													117.0	134.0	128.0					17																	26962166		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2439G>A	17.37:g.26962166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R813	ENST00000528896.2	37	c.2439	CCDS32595.1	17																																																																																			KIAA0100	-	NULL		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26962166	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	silent	SNP	1.000	T
SPIDR	23514	genome.wustl.edu	37	8	48614295	48614295	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:48614295C>G	ENST00000297423.4	+	13	2170	c.1786C>G	c.(1786-1788)Ctg>Gtg	p.L596V	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.L536V|SPIDR_ENST00000541342.1_Missense_Mutation_p.L526V|SPIDR_ENST00000517693.1_Missense_Mutation_p.L71V	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	596					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AAAAACTCATCTGCCTCCTCC	0.358																																																	0													130.0	123.0	125.0					8																	48614295		1883	4121	6004	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1786C>G	8.37:g.48614295C>G	ENSP00000297423:p.Leu596Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.L596V	ENST00000297423.4	37	c.1786	CCDS43737.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.58|10.58	1.391105|1.391105	0.25118|0.25118	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|0.546178	.|0.18244	.|N	.|0.147147	T|T	0.27866|0.27866	0.0686|0.0686	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;P;B;B;B;B;B	.|0.35793	.|0.197;0.197;0.521;0.033;0.275;0.129;0.197;0.033	.|B;B;B;B;B;B;B;B	.|0.32533	.|0.09;0.147;0.111;0.046;0.067;0.046;0.09;0.046	T|T	0.23476|0.23476	-1.0187|-1.0187	5|9	.|0.48119	.|T	.|0.1	.|.	3.1974|3.1974	0.06637|0.06637	0.1367:0.5621:0.1452:0.156|0.1367:0.5621:0.1452:0.156	.|.	.|86;101;536;526;596;285;71;596	.|B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.|.;.;.;.;.;.;.;K0146_HUMAN	M|V	277|596;536;526;101;71;71	.|.	.|ENSP00000297423:L596V	I|L	+|+	3|1	3|2	KIAA0146|KIAA0146	48776848|48776848	0.034000|0.034000	0.19679|0.19679	0.311000|0.311000	0.25182|0.25182	0.909000|0.909000	0.53808|0.53808	0.066000|0.066000	0.14489|0.14489	0.239000|0.239000	0.21243|0.21243	0.650000|0.650000	0.86243|0.86243	ATC|CTG	KIAA0146	-	NULL		0.358	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	C	NM_001080394		48614295	+1	no_errors	ENST00000297423	ensembl	human	known	70_37	missense	SNP	0.184	G
KIAA0196	9897	genome.wustl.edu	37	8	126075818	126075818	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:126075818C>G	ENST00000318410.7	-	11	1703	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E304Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	452					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAGCAAGCTCAGTCATCCGC	0.408																																																	0													150.0	138.0	142.0					8																	126075818		2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1354G>C	8.37:g.126075818C>G	ENSP00000318016:p.Glu452Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E452Q	ENST00000318410.7	37	c.1354	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751437	0.89753	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86497	-2.13;-2.13	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91875	0.7428	M	0.63428	1.95	0.80722	D	1	D;P	0.76494	0.999;0.906	D;P	0.70935	0.971;0.596	D	0.91356	0.5108	10	0.40728	T	0.16	-22.6034	16.1867	0.81959	0.1343:0.8657:0.0:0.0	.	304;452	E7EQI7;Q12768	.;STRUM_HUMAN	Q	452;304	ENSP00000318016:E452Q;ENSP00000429676:E304Q	ENSP00000318016:E452Q	E	-	1	0	KIAA0196	126145000	1.000000	0.71417	0.855000	0.33649	0.988000	0.76386	7.814000	0.86154	1.438000	0.47492	0.561000	0.74099	GAG	KIAA0196	-	pfam_WASH_strumpellin		0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	C	NM_014846		126075818	-1	no_errors	ENST00000318410	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0226	9711	genome.wustl.edu	37	3	197427948	197427948	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:197427948G>A	ENST00000296343.5	-	7	796	c.797C>T	c.(796-798)tCa>tTa	p.S266L	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S206L|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S266L|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S266L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	266	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCTGCTGGTGAGACGTGCCC	0.512																																					Esophageal Squamous(3;167 355 3763 15924)												0													55.0	57.0	56.0					3																	197427948		1909	4131	6040	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.797C>T	3.37:g.197427948G>A	ENSP00000296343:p.Ser266Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.S266L	ENST00000296343.5	37	c.797	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.580|7.580	0.668539|0.668539	0.14776|0.14776	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|.	.|.	.|.	5.74|5.74	2.97|2.97	0.34412|0.34412	.|.	.|0.973875	.|0.08469	.|N	.|0.941321	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.32753	.|0.323;0.383;0.376;0.126	.|B;B;B;B	.|0.26969	.|0.055;0.073;0.075;0.055	T|T	0.18116|0.18116	-1.0347|-1.0347	5|9	.|0.34782	.|T	.|0.22	.|.	7.1612|7.1612	0.25664|0.25664	0.1424:0.0:0.7197:0.1379|0.1424:0.0:0.7197:0.1379	.|.	.|266;99;206;266	.|E9PEM3;Q5HYI6;Q92622-2;Q92622	.|.;.;.;RUBIC_HUMAN	Y|L	25|206;266;266;266	.|.	.|ENSP00000273582:S206L	H|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198912345|198912345	0.103000|0.103000	0.21917|0.21917	0.000000|0.000000	0.03702|0.03702	0.047000|0.047000	0.14425|0.14425	2.459000|2.459000	0.45023|0.45023	0.345000|0.345000	0.23873|0.23873	-0.136000|-0.136000	0.14681|0.14681	CAC|TCA	KIAA0226	-	NULL		0.512	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	G	XM_032901		197427948	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	0.001	A
KIAA0232	9778	genome.wustl.edu	37	4	6858947	6858947	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:6858947G>C	ENST00000307659.5	+	5	881	c.426G>C	c.(424-426)caG>caC	p.Q142H	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Q142H	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	142							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGACCTTCAGAGTAAGCAAG	0.453																																																	0													61.0	60.0	60.0					4																	6858947		1902	4131	6033	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.426G>C	4.37:g.6858947G>C	ENSP00000303928:p.Gln142His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.Q142H	ENST00000307659.5	37	c.426	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994349	0.74703	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.40543	1.245	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.70223	-0.4931	9	0.66056	D	0.02	-8.0672	13.7137	0.62682	0.0739:0.0:0.9261:0.0	.	142	Q92628	K0232_HUMAN	H	142	.	ENSP00000303928:Q142H	Q	+	3	2	KIAA0232	6909848	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.954000	0.56708	1.303000	0.44873	0.655000	0.94253	CAG	KIAA0232	-	NULL		0.453	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	G	NM_014743		6858947	+1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0430	9665	genome.wustl.edu	37	16	15690681	15690681	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:15690681G>A	ENST00000396368.3	-	27	5304	c.5098C>T	c.(5098-5100)Ccc>Tcc	p.P1700S	KIAA0430_ENST00000548025.1_Missense_Mutation_p.P1697S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.P1697S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P1388S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P1700S|KIAA0430_ENST00000540441.2_Missense_Mutation_p.P1535S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1700					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GAGGGGCAGGGAGGCACGGGG	0.527																																																	0													66.0	68.0	67.0					16																	15690681		2035	4217	6252	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5098C>T	16.37:g.15690681G>A	ENSP00000379654:p.Pro1700Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1700S	ENST00000396368.3	37	c.5098	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483575	0.26598	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	3.41	0.39046	.	0.295106	0.33712	N	0.004632	T	0.27731	0.0682	L	0.29908	0.895	0.24148	N	0.995707	B;B;B;B	0.32365	0.081;0.367;0.367;0.048	B;B;B;B	0.26094	0.038;0.066;0.066;0.017	T	0.11991	-1.0565	9	0.46703	T	0.11	-4.2902	9.9181	0.41448	0.0:0.1514:0.6911:0.1575	.	1699;1697;1696;1699	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	S	1700;1535;1640;1388;1697;1700;1566	.	ENSP00000315718:P1640S	P	-	1	0	KIAA0430	15598182	1.000000	0.71417	0.098000	0.21074	0.081000	0.17604	2.416000	0.44644	0.596000	0.29794	0.655000	0.94253	CCC	KIAA0430	-	NULL		0.527	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15690681	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	1.000	A
CLUH	23277	genome.wustl.edu	37	17	2607745	2607745	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:2607745C>T	ENST00000570628.2	-	2	205	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CLUH_ENST00000435359.1_Missense_Mutation_p.E34K|CLUH_ENST00000538975.1_Missense_Mutation_p.E34K			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	34					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CCGGTGGTCTCATCTCCCGGG	0.617																																																	0													34.0	38.0	37.0					17																	2607745		1922	4116	6038	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.100G>A	17.37:g.2607745C>T	ENSP00000458986:p.Glu34Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP/TIF31_domain	p.E34K	ENST00000570628.2	37	c.100	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199315	0.38806	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80994	-1.44;-1.44	4.97	4.97	0.65823	.	0.121598	0.53938	D	0.000059	T	0.70020	0.3176	N	0.24115	0.695	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.64309	-0.6438	10	0.23302	T	0.38	.	17.1909	0.86879	0.0:1.0:0.0:0.0	.	34	O75153	K0664_HUMAN	K	34	ENSP00000388872:E34K;ENSP00000439628:E34K	ENSP00000320468:E34K	E	-	1	0	KIAA0664	2554495	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	4.807000	0.62576	2.298000	0.77334	0.514000	0.50259	GAG	KIAA0664	-	NULL		0.617	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	C	NM_015229		2607745	-1	no_errors	ENST00000435359	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0754	643314	genome.wustl.edu	37	1	39877313	39877313	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:39877313C>G	ENST00000530275.1	+	1	1163	c.968C>G	c.(967-969)tCt>tGt	p.S323C	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	323										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACAGCTCTCTGACACAGAC	0.433											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													154.0	149.0	150.0					1																	39877313		1933	4153	6086	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.968C>G	1.37:g.39877313C>G	ENSP00000431179:p.Ser323Cys	Somatic	889	WXS	Illumina HiSeq	Phase_IV	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.S323C	ENST00000530275.1	37	c.968		1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277397	0.80580	.	.	ENSG00000255103	ENST00000530275	D	0.86562	-2.14	5.14	5.14	0.70334	.	.	.	.	.	D	0.90068	0.6898	L	0.27053	0.805	0.31063	N	0.713884	D	0.89917	1.0	D	0.91635	0.999	D	0.89360	0.3667	9	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	323	O94854	K0754_HUMAN	C	323	ENSP00000431179:S323C	ENSP00000431179:S323C	S	+	2	0	RP4-562N20.1	39649900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.069000	0.71209	2.398000	0.81561	0.655000	0.94253	TCT	KIAA0754	-	NULL		0.433	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39877313	+1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	1.000	G
ICE1	23379	genome.wustl.edu	37	5	5464745	5464745	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:5464745C>T	ENST00000296564.7	+	13	5520	c.5298C>T	c.(5296-5298)ctC>ctT	p.L1766L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1766					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCGGACCCTCAACATCCTCA	0.517																																																	0													36.0	36.0	36.0					5																	5464745		1908	4114	6022	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.5298C>T	5.37:g.5464745C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.L1766	ENST00000296564.7	37	c.5298	CCDS47187.1	5																																																																																			KIAA0947	-	NULL		0.517	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	C			5464745	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	silent	SNP	0.997	T
NWD2	57495	genome.wustl.edu	37	4	37446158	37446158	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:37446158C>G	ENST00000309447.5	+	7	3396	c.2548C>G	c.(2548-2550)Ctg>Gtg	p.L850V		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		850										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						AACCGATGACCTGCTTTACGG	0.428																																																	0													76.0	59.0	64.0					4																	37446158		692	1591	2283	SO:0001583	missense	57495																														ENST00000309447.5:c.2548C>G	4.37:g.37446158C>G	ENSP00000309501:p.Leu850Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L850V	ENST00000309447.5	37	c.2548	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302533	0.23736	.	.	ENSG00000174145	ENST00000309447	D	0.90324	-2.65	5.84	2.28	0.28536	.	0.000000	0.64402	D	0.000001	D	0.88066	0.6337	M	0.68593	2.085	0.58432	D	0.999996	P	0.50528	0.936	P	0.44732	0.459	D	0.83392	0.0018	10	0.49607	T	0.09	.	6.2555	0.20872	0.1203:0.6279:0.0:0.2518	.	850	Q9ULI1	K1239_HUMAN	V	850	ENSP00000309501:L850V	ENSP00000309501:L850V	L	+	1	2	KIAA1239	37122553	1.000000	0.71417	0.996000	0.52242	0.847000	0.48162	1.507000	0.35758	0.125000	0.18397	-0.142000	0.14014	CTG	KIAA1239	-	NULL		0.428	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	C			37446158	+1	no_errors	ENST00000309447	ensembl	human	known	70_37	missense	SNP	1.000	G
CFAP97	57587	genome.wustl.edu	37	4	186085307	186085307	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:186085307C>T	ENST00000458385.2	-	4	1466	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		449										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CTGTTGGTTTCACGGCCTCAA	0.393																																																	0													128.0	119.0	122.0					4																	186085307		1895	4116	6011	SO:0001819	synonymous_variant	57587																														ENST00000458385.2:c.1347G>A	4.37:g.186085307C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.V449	ENST00000458385.2	37	c.1347	CCDS47168.1	4																																																																																			KIAA1430	-	NULL		0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	C			186085307	-1	no_errors	ENST00000458385	ensembl	human	novel	70_37	silent	SNP	1.000	T
KIAA1614	57710	genome.wustl.edu	37	1	180907775	180907775	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:180907775C>G	ENST00000367588.4	+	6	2901	c.2846C>G	c.(2845-2847)tCa>tGa	p.S949*	KIAA1614_ENST00000367587.1_Nonsense_Mutation_p.S570*	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	949	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCAGAGGAGTCAGAGTCCAGC	0.562																																																	0													73.0	80.0	78.0					1																	180907775		2179	4291	6470	SO:0001587	stop_gained	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2846C>G	1.37:g.180907775C>G	ENSP00000356560:p.Ser949*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZ45|Q9HCF8	Nonsense_Mutation	SNP	NULL	p.S949*	ENST00000367588.4	37	c.2846	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.111004	0.97291	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	.	.	.	4.78	3.87	0.44632	.	0.770342	0.12004	N	0.508598	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.0791	9.1272	0.36824	0.0:0.8978:0.0:0.1022	.	.	.	.	X	949;570	.	ENSP00000356559:S570X	S	+	2	0	KIAA1614	179174398	0.046000	0.20272	0.824000	0.32777	0.104000	0.19210	0.405000	0.21015	1.144000	0.42321	0.561000	0.74099	TCA	KIAA1614	-	NULL		0.562	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	C	XM_046531		180907775	+1	no_errors	ENST00000367588	ensembl	human	known	70_37	nonsense	SNP	0.694	G
KIAA1671	85379	genome.wustl.edu	37	22	25586705	25586705	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:25586705G>C	ENST00000406486.4	+	13	5766	c.5379G>C	c.(5377-5379)ttG>ttC	p.L1793F	KIAA1671_ENST00000358431.3_Missense_Mutation_p.L1793F|KIAA1671_ENST00000401395.1_Missense_Mutation_p.L300F			Q9BY89	K1671_HUMAN	KIAA1671	1793										autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2)	9						TAAAGGAATTGAAATCCAAGA	0.512																																																	0													155.0	129.0	137.0					22																	25586705		692	1591	2283	SO:0001583	missense	85379				CCDS46676.1	22q11.23	2009-07-09			ENSG00000197077	ENSG00000197077			29345	protein-coding gene	gene with protein product						15289310	Standard	NM_001145206		Approved		uc003abn.3	Q9BY89	OTTHUMG00000150841	ENST00000406486.4:c.5379G>C	22.37:g.25586705G>C	ENSP00000385152:p.Leu1793Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYF2|B7ZW08|Q5THZ5	Missense_Mutation	SNP	NULL	p.L1793F	ENST00000406486.4	37	c.5379	CCDS46676.1	22	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635538	0.67130	.	.	ENSG00000197077	ENST00000406486;ENST00000358431;ENST00000401395	.	.	.	5.18	3.09	0.35607	.	0.000000	0.64402	D	0.000009	T	0.72835	0.3510	M	0.80183	2.485	0.40439	D	0.980026	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72861	-0.4164	9	0.62326	D	0.03	.	7.9231	0.29859	0.1913:0.0:0.8087:0.0	.	1793;300	Q9BY89;Q9BY89-2	K1671_HUMAN;.	F	1793;1793;300	.	ENSP00000351207:L1793F	L	+	3	2	KIAA1671	23916705	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.213000	0.32407	0.572000	0.29383	0.563000	0.77884	TTG	KIAA1671	-	NULL		0.512	KIAA1671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1671	HGNC	protein_coding	OTTHUMT00000320306.6	G	NM_001145206		25586705	+1	no_errors	ENST00000358431	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA2018	205717	genome.wustl.edu	37	3	113377147	113377147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:113377147C>A	ENST00000478658.1	-	5	3399	c.3382G>T	c.(3382-3384)Gag>Tag	p.E1128*	KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.E1128*|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1128						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCAGTTTGCTCTACAAAGGTA	0.443																																																	0													130.0	123.0	125.0					3																	113377147		1951	4148	6099	SO:0001587	stop_gained	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3382G>T	3.37:g.113377147C>A	ENSP00000420721:p.Glu1128*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E1128*	ENST00000478658.1	37	c.3382	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.339378	0.98767	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.8055	19.2449	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	X	1128	.	ENSP00000320794:E1128X	E	-	1	0	KIAA2018	114859837	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.403000	0.79983	2.560000	0.86352	0.561000	0.74099	GAG	KIAA2018	-	NULL		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113377147	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIF12	113220	genome.wustl.edu	37	9	116858726	116858726	+	Missense_Mutation	SNP	G	G	C	rs35480554		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116858726G>C	ENST00000374118.3	-	5	502	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	222	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCTGGTTCAGGGTGTGGGCT	0.567																																																	0													97.0	77.0	84.0					9																	116858726		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.265C>G	9.37:g.116858726G>C	ENSP00000363232:p.Leu89Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBE0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L222V	ENST00000374118.3	37	c.664	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788054	0.70337	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.75704	-0.96	5.69	3.84	0.44239	Kinesin, motor domain (5);	0.000000	0.47852	D	0.000217	T	0.79446	0.4447	L	0.58354	1.805	0.34192	D	0.672179	P	0.49696	0.927	P	0.61397	0.888	T	0.83306	-0.0025	10	0.87932	D	0	.	6.8102	0.23801	0.0908:0.0:0.7349:0.1743	.	222	Q96FN5	KIF12_HUMAN	V	89;222	ENSP00000363232:L89V	ENSP00000259410:L222V	L	-	1	2	KIF12	115898547	0.997000	0.39634	0.997000	0.53966	0.997000	0.91878	1.937000	0.40193	0.730000	0.32425	0.650000	0.86243	CTG	KIF12	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.567	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116858726	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	missense	SNP	0.998	C
KIF13B	23303	genome.wustl.edu	37	8	29023247	29023247	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:29023247C>G	ENST00000524189.1	-	12	1239	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.E401Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	401					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATTAGCTTCTCAGATTCTTCC	0.433																																																	0													118.0	113.0	115.0					8																	29023247		1854	4101	5955	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1201G>C	8.37:g.29023247C>G	ENSP00000427900:p.Glu401Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E401Q	ENST00000524189.1	37	c.1201	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491740	0.84962	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.80738	-1.41;-1.26	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.984	D;D;D	0.85130	0.986;0.997;0.924	D	0.89215	0.3567	10	0.59425	D	0.04	.	15.4179	0.74987	0.14:0.86:0.0:0.0	.	387;401;401	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	401	ENSP00000427900:E401Q;ENSP00000429201:E401Q	ENSP00000429201:E401Q	E	-	1	0	KIF13B	29079166	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.604000	0.82830	1.433000	0.47394	0.655000	0.94253	GAG	KIF13B	-	NULL		0.433	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	C			29023247	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF14	9928	genome.wustl.edu	37	1	200522698	200522698	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:200522698C>G	ENST00000367350.4	-	30	5203	c.4765G>C	c.(4765-4767)Gat>Cat	p.D1589H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1589	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCAACAAATCAGGGCTTTCT	0.398																																																	0													119.0	109.0	113.0					1																	200522698		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4765G>C	1.37:g.200522698C>G	ENSP00000356319:p.Asp1589His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1589H	ENST00000367350.4	37	c.4765	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333943	0.24253	.	.	ENSG00000118193	ENST00000367350	T	0.73789	-0.78	5.59	0.275	0.15659	.	1.746180	0.02744	N	0.116599	T	0.68026	0.2956	L	0.36672	1.1	0.09310	N	1	P	0.45902	0.868	P	0.44518	0.452	T	0.55296	-0.8163	10	0.46703	T	0.11	.	5.483	0.16733	0.0:0.4479:0.1344:0.4177	.	1589	Q15058	KIF14_HUMAN	H	1589	ENSP00000356319:D1589H	ENSP00000356319:D1589H	D	-	1	0	KIF14	198789321	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.609000	0.05635	-0.201000	0.10284	-0.140000	0.14226	GAT	KIF14	-	NULL		0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	C	NM_014875		200522698	-1	no_errors	ENST00000367350	ensembl	human	known	70_37	missense	SNP	0.000	G
KIF1C	10749	genome.wustl.edu	37	17	4925710	4925710	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:4925710G>C	ENST00000320785.5	+	22	2691	c.2334G>C	c.(2332-2334)aaG>aaC	p.K778N	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	778					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCCCTCAAGATGCGGGAGC	0.662																																					Melanoma(96;1023 1447 10250 19259 33730)												0													22.0	21.0	22.0					17																	4925710		2196	4289	6485	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2334G>C	17.37:g.4925710G>C	ENSP00000320821:p.Lys778Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K778N	ENST00000320785.5	37	c.2334	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386560	0.61956	.	.	ENSG00000129250	ENST00000320785	T	0.74526	-0.85	4.67	4.67	0.58626	.	.	.	.	.	T	0.81158	0.4764	L	0.43923	1.385	0.44547	D	0.997507	D	0.71674	0.998	D	0.73708	0.981	T	0.82955	-0.0200	9	0.72032	D	0.01	.	15.1017	0.72284	0.0:0.0:1.0:0.0	.	778	O43896	KIF1C_HUMAN	N	778	ENSP00000320821:K778N	ENSP00000320821:K778N	K	+	3	2	KIF1C	4866434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.371000	0.44248	2.436000	0.82500	0.655000	0.94253	AAG	KIF1C	-	NULL		0.662	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	G			4925710	+1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF19	124602	genome.wustl.edu	37	17	72338795	72338795	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:72338795G>C	ENST00000389916.4	+	4	396	c.258G>C	c.(256-258)aaG>aaC	p.K86N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	86	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCACCACCAAGAGCCTCATCG	0.617																																																	0													135.0	109.0	118.0					17																	72338795		2203	4300	6503	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.258G>C	17.37:g.72338795G>C	ENSP00000374566:p.Lys86Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K86N	ENST00000389916.4	37	c.258	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805050	0.70682	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.76060	-0.77;-0.99	5.36	4.39	0.52855	Kinesin, motor domain (4);	.	.	.	.	T	0.78387	0.4275	M	0.62016	1.91	0.38578	D	0.9501	P;D;B;B	0.56035	0.902;0.974;0.09;0.09	P;P;B;B	0.56916	0.643;0.809;0.124;0.124	T	0.80118	-0.1516	9	0.62326	D	0.03	.	6.9592	0.24587	0.2973:0.0:0.7027:0.0	.	86;86;86;86	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	N	86	ENSP00000449134:K86N;ENSP00000374566:K86N	ENSP00000374566:K86N	K	+	3	2	KIF19	69850390	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	0.656000	0.24948	1.283000	0.44513	0.456000	0.33151	AAG	KIF19	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	G	NM_153209		72338795	+1	no_errors	ENST00000389916	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF27	55582	genome.wustl.edu	37	9	86498737	86498737	+	Silent	SNP	C	C	G	rs367975807		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:86498737C>G	ENST00000297814.2	-	10	2579	c.2436G>C	c.(2434-2436)ctG>ctC	p.L812L	KIF27_ENST00000413982.1_Silent_p.L812L|KIF27_ENST00000334204.2_Silent_p.L812L|KIF27_ENST00000376347.1_Silent_p.L203L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	812					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CCTGAACTCTCAGCTTTGCAG	0.348																																																	0													79.0	74.0	76.0					9																	86498737		2203	4300	6503	SO:0001819	synonymous_variant	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2436G>C	9.37:g.86498737C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L812	ENST00000297814.2	37	c.2436	CCDS6665.1	9																																																																																			KIF27	-	NULL		0.348	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	C	NM_017576		86498737	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	silent	SNP	0.923	G
KIF27	55582	genome.wustl.edu	37	9	86498868	86498868	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:86498868C>G	ENST00000297814.2	-	10	2448	c.2305G>C	c.(2305-2307)Gaa>Caa	p.E769Q	KIF27_ENST00000413982.1_Missense_Mutation_p.E769Q|KIF27_ENST00000334204.2_Missense_Mutation_p.E769Q|KIF27_ENST00000376347.1_Missense_Mutation_p.E160Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	769					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTGCCTGTTCTGCATCATGC	0.338																																																	0													160.0	146.0	151.0					9																	86498868		2202	4299	6501	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2305G>C	9.37:g.86498868C>G	ENSP00000297814:p.Glu769Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E769Q	ENST00000297814.2	37	c.2305	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397758	0.25205	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.36	2.55	0.30701	.	0.000000	0.64402	D	0.000018	T	0.43942	0.1270	L	0.55834	1.745	0.28445	N	0.916612	P;B;P	0.37500	0.51;0.143;0.597	B;B;B	0.35413	0.202;0.173;0.172	T	0.35724	-0.9777	10	0.38643	T	0.18	.	10.1762	0.42939	0.0:0.7842:0.0:0.2158	.	769;769;769	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	769;769;769;160	ENSP00000297814:E769Q;ENSP00000401688:E769Q;ENSP00000333928:E769Q;ENSP00000365525:E160Q	ENSP00000297814:E769Q	E	-	1	0	KIF27	85688688	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	1.844000	0.39269	0.645000	0.30675	-0.224000	0.12420	GAA	KIF27	-	NULL		0.338	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	C	NM_017576		86498868	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF2A	3796	genome.wustl.edu	37	5	61643892	61643892	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:61643892C>G	ENST00000401507.3	+	3	488	c.177C>G	c.(175-177)atC>atG	p.I59M	KIF2A_ENST00000381103.2_Missense_Mutation_p.I39M|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.I59M|KIF2A_ENST00000506857.1_Missense_Mutation_p.I32M	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	59	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGGAGAGCATCTTTTCACTTA	0.368																																																	0													134.0	131.0	132.0					5																	61643892		2203	4300	6503	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.177C>G	5.37:g.61643892C>G	ENSP00000385622:p.Ile59Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I59M	ENST00000401507.3	37	c.177	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015708	0.54468	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000512541;ENST00000506857	T;T;T;T;T;T	0.78246	-1.01;-1.0;1.44;-1.16;0.37;-1.05	5.36	3.47	0.39725	.	0.043581	0.85682	D	0.000000	D	0.83184	0.5199	M	0.80332	2.49	0.50313	D	0.999869	P;D;P;P	0.55800	0.955;0.973;0.756;0.76	P;P;B;P	0.56751	0.643;0.805;0.413;0.482	D	0.83686	0.0174	10	0.87932	D	0	.	6.8968	0.24260	0.3371:0.5748:0.0:0.0882	.	59;59;59;39	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	M	59;39;59;59;32;32	ENSP00000385622:I59M;ENSP00000370493:I39M;ENSP00000423542:I59M;ENSP00000385000:I59M;ENSP00000425411:I32M;ENSP00000423772:I32M	ENSP00000370493:I39M	I	+	3	3	KIF2A	61679649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.346000	0.33964	1.277000	0.44412	0.460000	0.39030	ATC	KIF2A	-	NULL		0.368	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	C	NM_004520		61643892	+1	no_errors	ENST00000407818	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF2A	3796	genome.wustl.edu	37	5	61668359	61668359	+	Intron	SNP	T	T	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:61668359T>G	ENST00000401507.3	+	17	1957				KIF2A_ENST00000381103.2_Intron|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.F581V|KIF2A_ENST00000506857.1_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		ATATGACGACTTTTCTCCTTC	0.373																																																	0													88.0	81.0	83.0					5																	61668359		1846	4103	5949	SO:0001627	intron_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1647-1155T>G	5.37:g.61668359T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F581V	ENST00000401507.3	37	c.1741	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513133	0.27123	.	.	ENSG00000068796	ENST00000407818	T	0.72942	-0.7	5.09	5.09	0.68999	.	.	.	.	.	T	0.67230	0.2871	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.67273	-0.5712	9	0.22706	T	0.39	.	15.0278	0.71682	0.0:0.0:0.0:1.0	.	581	O00139-4	.	V	581	ENSP00000385000:F581V	ENSP00000385000:F581V	F	+	1	0	KIF2A	61704116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.306000	0.65756	2.141000	0.66446	0.482000	0.46254	TTT	KIF2A	-	NULL		0.373	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	T	NM_004520		61668359	+1	no_errors	ENST00000407818	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF3C	3797	genome.wustl.edu	37	2	26178494	26178494	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:26178494G>A	ENST00000264712.3	-	3	2265	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	KIF3C_ENST00000405914.1_Silent_p.L562L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	562					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGTCCCGGAGCATCATCT	0.587																																																	0													184.0	142.0	156.0					2																	26178494		2203	4300	6503	SO:0001819	synonymous_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1686C>T	2.37:g.26178494G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L562	ENST00000264712.3	37	c.1686	CCDS1719.1	2																																																																																			KIF3C	-	NULL		0.587	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	G			26178494	-1	no_errors	ENST00000264712	ensembl	human	known	70_37	silent	SNP	0.972	A
KIF4B	285643	genome.wustl.edu	37	5	154395762	154395762	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:154395762C>T	ENST00000435029.4	+	1	2503	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	781	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTTCAACTCAAAGAAAAAA	0.443																																																	0													52.0	54.0	53.0					5																	154395762		2202	4300	6502	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2343C>T	5.37:g.154395762C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L781	ENST00000435029.4	37	c.2343	CCDS47324.1	5																																																																																			KIF4B	-	NULL		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154395762	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF5B	3799	genome.wustl.edu	37	10	32308830	32308830	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:32308830C>G	ENST00000302418.4	-	20	2719	c.2262G>C	c.(2260-2262)ttG>ttC	p.L754F	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	754					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGGCTTTCAACTTCTCAT	0.308			T	"""RET, ALK"""	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													250.0	239.0	243.0					10																	32308830		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2262G>C	10.37:g.32308830C>G	ENSP00000307078:p.Leu754Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L754F	ENST00000302418.4	37	c.2262	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635129	0.67130	.	.	ENSG00000170759	ENST00000302418	D	0.84146	-1.81	5.33	0.179	0.15063	.	0.236043	0.37095	N	0.002241	D	0.90584	0.7048	M	0.89287	3.02	0.44899	D	0.997912	D	0.60160	0.987	P	0.61003	0.882	D	0.88906	0.3356	10	0.54805	T	0.06	.	9.8995	0.41340	0.0:0.6583:0.0:0.3417	.	754	P33176	KINH_HUMAN	F	754	ENSP00000307078:L754F	ENSP00000307078:L754F	L	-	3	2	KIF5B	32348836	1.000000	0.71417	0.962000	0.40283	0.979000	0.70002	0.876000	0.28092	-0.018000	0.14079	0.467000	0.42956	TTG	KIF5B	-	NULL		0.308	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	C	NM_004521		32308830	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF5C	3800	genome.wustl.edu	37	2	149829850	149829850	+	Splice_Site	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:149829850G>T	ENST00000435030.1	+	12	1486	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	KIF5C_ENST00000397413.1_Splice_Site_p.G141V|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Splice_Site_p.G278V			O60282	KIF5C_HUMAN	kinesin family member 5C	373					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTTTTGCAGGAGAAGCTGTG	0.448																																																	0													87.0	91.0	90.0					2																	149829850		1956	4170	6126	SO:0001630	splice_region_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1118-1G>T	2.37:g.149829850G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G373V	ENST00000435030.1	37	c.1118		2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823061	0.90873	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.83506	-1.73;-1.73;-1.73	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90626	0.4563	8	.	.	.	.	19.7723	0.96370	0.0:0.0:1.0:0.0	.	373	O60282	KIF5C_HUMAN	V	373;278;276;141	ENSP00000393379:G373V;ENSP00000410115:G278V;ENSP00000380560:G141V	.	G	+	2	0	KIF5C	149538096	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.813000	0.99286	2.778000	0.95560	0.655000	0.94253	GGA	KIF5C	-	NULL		0.448	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522	Missense_Mutation	149829850	+1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF9	64147	genome.wustl.edu	37	3	47277039	47277039	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47277039G>A	ENST00000265529.3	-	21	2966	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	KIF9_ENST00000335044.2_Silent_p.I762I|KIF9_ENST00000444589.2_Silent_p.I697I|KIF9_ENST00000352910.4_3'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.I762I			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	762					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTAGAAGGAGATGGAATCAG	0.527																																					Colon(44;962 1147 15977 24541)												0													151.0	143.0	146.0					3																	47277039		2203	4300	6503	SO:0001819	synonymous_variant	64147			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.2286C>T	3.37:g.47277039G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86Z28|Q9H8A4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I762	ENST00000265529.3	37	c.2286	CCDS2752.1	3																																																																																			KIF9	-	NULL		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	G			47277039	-1	no_errors	ENST00000265529	ensembl	human	known	70_37	silent	SNP	0.585	A
KLB	152831	genome.wustl.edu	37	4	39435943	39435943	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:39435943G>C	ENST00000257408.4	+	2	1036	c.939G>C	c.(937-939)acG>acC	p.T313T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	313	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CGGAAAACACGATGGATATAT	0.468																																																	0													123.0	107.0	113.0					4																	39435943		2203	4300	6503	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.939G>C	4.37:g.39435943G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T313	ENST00000257408.4	37	c.939	CCDS3451.1	4																																																																																			KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.468	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	G	NM_175737		39435943	+1	no_errors	ENST00000257408	ensembl	human	known	70_37	silent	SNP	0.000	C
KLF6	1316	genome.wustl.edu	37	10	3824162	3824162	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:3824162G>C	ENST00000497571.1	-	2	607	c.347C>G	c.(346-348)tCc>tGc	p.S116C	KLF6_ENST00000542957.1_Missense_Mutation_p.S116C|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.S116C	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	116			S -> P (found in prostate cancer samples; somatic mutation; does not up-regulates CDKN1A in a p53-independent manner and significantly reduces cell proliferation). {ECO:0000269|PubMed:11752579}.		B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTTCCTCGGAGCTGTCAGA	0.537											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													151.0	162.0	158.0					10																	3824162		2203	4300	6503	SO:0001583	missense	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.347C>G	10.37:g.3824162G>C	ENSP00000419923:p.Ser116Cys	Somatic	614	WXS	Illumina HiSeq	Phase_IV	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S116C	ENST00000497571.1	37	c.347	CCDS7060.1	10	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912182	0.72983	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.56103	3.29;0.48;0.7	4.99	4.99	0.66335	.	0.058884	0.64402	D	0.000001	T	0.68686	0.3028	M	0.61703	1.905	0.58432	D	0.999999	B;D;D;B	0.89917	0.003;0.998;1.0;0.004	B;D;D;B	0.68943	0.007;0.957;0.961;0.01	T	0.71586	-0.4548	10	0.62326	D	0.03	.	15.4405	0.75178	0.0:0.0:1.0:0.0	.	116;116;116;116	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	C	116	ENSP00000419923:S116C;ENSP00000445301:S116C;ENSP00000419079:S116C	ENSP00000419079:S116C	S	-	2	0	KLF6	3814162	1.000000	0.71417	0.982000	0.44146	0.935000	0.57460	7.491000	0.81471	2.309000	0.77851	0.561000	0.74099	TCC	KLF6	-	NULL		0.537	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1	G			3824162	-1	no_errors	ENST00000497571	ensembl	human	known	70_37	missense	SNP	0.999	C
KLHDC7B	113730	genome.wustl.edu	37	22	50986792	50986792	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50986792G>A	ENST00000395676.2	+	1	331	c.197G>A	c.(196-198)aGa>aAa	p.R66K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	66										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACAGCCAAGAAGCTCCGAG	0.627																																																	0													39.0	47.0	45.0					22																	50986792		692	1591	2283	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.197G>A	22.37:g.50986792G>A	ENSP00000379034:p.Arg66Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.R66K	ENST00000395676.2	37	c.197	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573448	0.13623	.	.	ENSG00000130487	ENST00000395676	D	0.81996	-1.56	3.72	-1.28	0.09318	.	.	.	.	.	T	0.57548	0.2061	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.49093	-0.8975	9	0.05351	T	0.99	.	0.7942	0.01063	0.2318:0.3071:0.2833:0.1778	.	66	Q96G42	KLD7B_HUMAN	K	66	ENSP00000379034:R66K	ENSP00000379034:R66K	R	+	2	0	KLHDC7B	49333658	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	-0.160000	0.10041	0.221000	0.20879	0.485000	0.47835	AGA	KLHDC7B	-	NULL		0.627	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50986792	+1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.000	A
KLHDC7B	113730	genome.wustl.edu	37	22	50986843	50986843	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50986843G>C	ENST00000395676.2	+	1	382	c.248G>C	c.(247-249)aGa>aCa	p.R83T	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	83										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGCCTAAGAGGAGAGGGA	0.701																																																	0													11.0	15.0	14.0					22																	50986843		1856	3861	5717	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.248G>C	22.37:g.50986843G>C	ENSP00000379034:p.Arg83Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.R83T	ENST00000395676.2	37	c.248	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949607	0.34377	.	.	ENSG00000130487	ENST00000395676	D	0.82893	-1.66	3.53	2.41	0.29592	.	.	.	.	.	T	0.66528	0.2798	N	0.24115	0.695	0.09310	N	1	B	0.25105	0.118	B	0.21151	0.033	T	0.50939	-0.8768	9	0.15499	T	0.54	.	5.1149	0.14829	0.1731:0.0:0.8269:0.0	.	83	Q96G42	KLD7B_HUMAN	T	83	ENSP00000379034:R83T	ENSP00000379034:R83T	R	+	2	0	KLHDC7B	49333709	0.000000	0.05858	0.002000	0.10522	0.576000	0.36127	0.340000	0.19892	1.810000	0.52873	0.485000	0.47835	AGA	KLHDC7B	-	NULL		0.701	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50986843	+1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.001	C
KLHL14	57565	genome.wustl.edu	37	18	30260513	30260513	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:30260513C>T	ENST00000359358.4	-	6	1726	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	430						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TTCCTTCCACCAATTACGTAT	0.453																																																	0													84.0	80.0	81.0					18																	30260513		2203	4300	6503	SO:0001583	missense	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1288G>A	18.37:g.30260513C>T	ENSP00000352314:p.Gly430Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G430S	ENST00000359358.4	37	c.1288	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526626	0.85706	.	.	ENSG00000197705	ENST00000359358	D	0.98792	-5.14	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98202	1.0468	10	0.87932	D	0	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	430	Q9P2G3	KLH14_HUMAN	S	430	ENSP00000352314:G430S	ENSP00000352314:G430S	G	-	1	0	KLHL14	28514511	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.487000	0.81328	2.688000	0.91661	0.650000	0.86243	GGT	KLHL14	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	C			30260513	-1	no_errors	ENST00000359358	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL17	339451	genome.wustl.edu	37	1	897278	897278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:897278C>T	ENST00000338591.3	+	4	669	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	188					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTACTGAGTCAGCTCGACCC	0.637																																																	0													69.0	70.0	70.0					1																	897278		2203	4300	6503	SO:0001587	stop_gained	339451			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.562C>T	1.37:g.897278C>T	ENSP00000343930:p.Gln188*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SV94	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q188*	ENST00000338591.3	37	c.562	CCDS30550.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.865442	0.97897	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0301	0.92953	0.0:1.0:0.0:0.0	.	.	.	.	X	188;64	.	ENSP00000343930:Q188X	Q	+	1	0	KLHL17	887141	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.750000	0.85110	2.577000	0.86979	0.561000	0.74099	CAG	KLHL17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.637	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	C	NM_198317		897278	+1	no_errors	ENST00000338591	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KLHL5	51088	genome.wustl.edu	37	4	39088213	39088213	+	Missense_Mutation	SNP	G	G	A	rs573552766		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:39088213G>A	ENST00000504108.1	+	5	1400	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	KLHL5_ENST00000508137.2_Missense_Mutation_p.D186N|KLHL5_ENST00000261426.5_Missense_Mutation_p.D312N|KLHL5_ENST00000381930.3_Missense_Mutation_p.D373N|KLHL5_ENST00000261425.3_Missense_Mutation_p.D327N|KLHL5_ENST00000359687.2_Missense_Mutation_p.D373N	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTTGGCTAGTGATGACATGAA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18133	0.0		0.0	False		,,,				2504	0.001																0													108.0	104.0	105.0					4																	39088213		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1117G>A	4.37:g.39088213G>A	ENSP00000423897:p.Asp373Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.D373N	ENST00000504108.1	37	c.1117	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.450871	0.96205	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.7	5.7	0.88788	BTB/Kelch-associated (2);	0.045310	0.85682	D	0.000000	D	0.85583	0.5730	M	0.82923	2.615	0.80722	D	1	P;P;P	0.50156	0.828;0.932;0.917	P;P;P	0.55577	0.462;0.777;0.779	D	0.86491	0.1797	10	0.59425	D	0.04	.	19.8437	0.96701	0.0:0.0:1.0:0.0	.	312;373;373	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	N	407;327;186;373;373;373;312	ENSP00000261425:D327N;ENSP00000423080:D186N;ENSP00000423897:D373N;ENSP00000352716:D373N;ENSP00000371355:D373N;ENSP00000261426:D312N	ENSP00000261425:D327N	D	+	1	0	KLHL5	38764608	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.813000	0.99286	2.693000	0.91896	0.585000	0.79938	GAT	KLHL5	-	pfam_BACK,smart_BACK		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	G			39088213	+1	no_errors	ENST00000359687	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL8	57563	genome.wustl.edu	37	4	88116574	88116574	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88116574C>G	ENST00000273963.5	-	2	459	c.118G>C	c.(118-120)Gat>Cat	p.D40H	KLHL8_ENST00000512111.1_Missense_Mutation_p.D40H|KLHL8_ENST00000425278.2_Missense_Mutation_p.D40H|KLHL8_ENST00000498875.2_Missense_Mutation_p.D40H|KLHL8_ENST00000545252.1_5'UTR	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	40					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATAAAGGAATCTTCTCCATCA	0.373																																																	0													161.0	160.0	161.0					4																	88116574		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.118G>C	4.37:g.88116574C>G	ENSP00000273963:p.Asp40His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D40H	ENST00000273963.5	37	c.118	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533528	0.64972	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;D;T	0.81739	-0.95;-1.24;-1.53;-0.95	5.34	5.34	0.76211	BTB/POZ fold (1);	0.242253	0.43919	D	0.000503	T	0.73401	0.3582	N	0.14661	0.345	0.80722	D	1	B;B;B	0.28512	0.214;0.214;0.214	B;B;B	0.37091	0.241;0.241;0.159	T	0.70494	-0.4856	10	0.36615	T	0.2	.	19.0413	0.93000	0.0:1.0:0.0:0.0	.	40;40;40	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	H	40	ENSP00000273963:D40H;ENSP00000426451:D40H;ENSP00000408854:D40H;ENSP00000424131:D40H	ENSP00000273963:D40H	D	-	1	0	KLHL8	88335598	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.606000	0.67641	2.477000	0.83638	0.455000	0.32223	GAT	KLHL8	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.373	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	C			88116574	-1	no_errors	ENST00000273963	ensembl	human	known	70_37	missense	SNP	0.998	G
KLK12	43849	genome.wustl.edu	37	19	51537307	51537307	+	Silent	SNP	G	G	A	rs370196145		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:51537307G>A	ENST00000525263.1	-	2	245	c.126C>T	c.(124-126)ggC>ggT	p.G42G	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250351.4_Silent_p.G42G|KLK12_ENST00000250352.11_Missense_Mutation_p.A19V|KLK12_ENST00000529888.1_Silent_p.G42G|KLK12_ENST00000319590.4_Silent_p.G42G			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	42	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCAGGCTGGTGCCCTCAAACA	0.632																																																	0								G	,,	1,4391		0,1,2195	31.0	24.0	27.0		126,126,126	-1.1	0.2	19		27	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK12	NM_019598.2,NM_145894.1,NM_145895.1	,,	0,1,6487	AA,AG,GG		0.0,0.0228,0.0077	,,	42/255,42/249,42/112	51537307	1,12975	2196	4292	6488	SO:0001819	synonymous_variant	43849				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.126C>T	19.37:g.51537307G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	p.A19V	ENST00000525263.1	37	c.56	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539397	0.45176	2.28E-4	0.0	ENSG00000186474	ENST00000250352	D	0.89485	-2.52	3.94	-1.15	0.09709	.	.	.	.	.	D	0.90191	0.6934	.	.	.	0.58432	D	0.999991	B;D	0.61697	0.043;0.99	B;P	0.59115	0.026;0.852	D	0.86207	0.1622	8	0.87932	D	0	.	3.9515	0.09371	0.3269:0.1789:0.4942:0.0	.	19;19	B9EGA9;Q49AM7	.;.	V	19	ENSP00000250352:A19V	ENSP00000250352:A19V	A	-	2	0	KLK12	56229119	0.000000	0.05858	0.170000	0.22879	0.418000	0.31294	-0.770000	0.04705	-0.191000	0.10448	-0.312000	0.09012	GCA	KLK12	-	pfam_Peptidase_S1_S6,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.632	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	G	NM_019598		51537307	-1	no_errors	ENST00000250352	ensembl	human	known	70_37	missense	SNP	0.127	A
KPNA7	402569	genome.wustl.edu	37	7	98790706	98790706	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:98790706C>G	ENST00000327442.6	-	5	611	c.572G>C	c.(571-573)aGa>aCa	p.R191T		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	191					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						GACGTTATCTCTGAACTCTGG	0.403																																																	0													102.0	94.0	97.0					7																	98790706		692	1591	2283	SO:0001583	missense	402569				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.572G>C	7.37:g.98790706C>G	ENSP00000330878:p.Arg191Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D277	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.R191T	ENST00000327442.6	37	c.572	CCDS47651.1	7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250668	0.80135	.	.	ENSG00000185467	ENST00000327442	T	0.70749	-0.51	5.2	5.2	0.72013	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92396	0.5925	10	0.87932	D	0	3.3415	18.6132	0.91294	0.0:1.0:0.0:0.0	.	191	A9QM74	IMA8_HUMAN	T	191	ENSP00000330878:R191T	ENSP00000330878:R191T	R	-	2	0	KPNA7	98628642	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	6.896000	0.75665	2.814000	0.96858	0.563000	0.77884	AGA	KPNA7	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.403	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	HGNC	protein_coding	OTTHUMT00000335118.1	C	NM_001145715		98790706	-1	no_errors	ENST00000327442	ensembl	human	known	70_37	missense	SNP	1.000	G
KRT10	3858	genome.wustl.edu	37	17	38977328	38977328	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:38977328C>G	ENST00000269576.5	-	2	678	c.669G>C	c.(667-669)caG>caC	p.Q223H	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	223	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CATTGTCGATCTGAAGCAGGA	0.418																																																	0													116.0	90.0	99.0					17																	38977328		2203	4300	6503	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.669G>C	17.37:g.38977328C>G	ENSP00000269576:p.Gln223His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14664|Q8N175	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Q223H	ENST00000269576.5	37	c.669	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906627	0.72868	.	.	ENSG00000186395	ENST00000269576	D	0.84516	-1.86	5.84	4.69	0.59074	Filament (1);	0.000000	0.34362	N	0.004027	D	0.92156	0.7513	M	0.86805	2.84	0.80722	D	1	P	0.35628	0.513	P	0.54706	0.759	D	0.91982	0.5595	10	0.54805	T	0.06	.	13.5601	0.61784	0.0:0.8733:0.0:0.1267	.	223	P13645	K1C10_HUMAN	H	223	ENSP00000269576:Q223H	ENSP00000269576:Q223H	Q	-	3	2	KRT10	36230854	0.001000	0.12720	0.998000	0.56505	0.980000	0.70556	-0.777000	0.04669	2.758000	0.94735	0.655000	0.94253	CAG	KRT10	-	pfam_F		0.418	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	C	NM_000421		38977328	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	missense	SNP	0.947	G
KRT28	162605	genome.wustl.edu	37	17	38950178	38950178	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:38950178C>T	ENST00000306658.7	-	6	1164	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCTGGCCCTCGGTCTCGGTT	0.552																																					Melanoma(19;789 869 15380 26882 39836)												0													149.0	146.0	147.0					17																	38950178		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1099G>A	17.37:g.38950178C>T	ENSP00000305263:p.Glu367Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E367K	ENST00000306658.7	37	c.1099	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679282	0.88542	.	.	ENSG00000173908	ENST00000306658	D	0.89746	-2.56	5.7	5.7	0.88788	Filament (1);	0.000000	0.64402	D	0.000009	D	0.94308	0.8171	M	0.83953	2.67	0.44843	D	0.99785	D	0.65815	0.995	P	0.60012	0.867	D	0.94425	0.7644	10	0.72032	D	0.01	.	19.1857	0.93642	0.0:1.0:0.0:0.0	.	367	Q7Z3Y7	K1C28_HUMAN	K	367	ENSP00000305263:E367K	ENSP00000305263:E367K	E	-	1	0	KRT28	36203704	0.948000	0.32251	1.000000	0.80357	0.981000	0.71138	2.116000	0.41930	2.846000	0.97976	0.650000	0.86243	GAG	KRT28	-	pfam_F,prints_Keratin_I		0.552	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950178	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.997	T
KRT28	162605	genome.wustl.edu	37	17	38950189	38950189	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:38950189C>T	ENST00000306658.7	-	6	1153	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCTCGGTTCTGACCTGGTG	0.567																																					Melanoma(19;789 869 15380 26882 39836)												0													145.0	143.0	144.0					17																	38950189		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1088G>A	17.37:g.38950189C>T	ENSP00000305263:p.Arg363Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R363K	ENST00000306658.7	37	c.1088	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973906	0.92919	.	.	ENSG00000173908	ENST00000306658	D	0.88354	-2.37	5.7	5.7	0.88788	Filament (1);	0.000000	0.64402	D	0.000019	D	0.90556	0.7040	L	0.45352	1.415	0.20764	N	0.99985	D	0.55605	0.972	P	0.60415	0.874	D	0.84702	0.0729	10	0.87932	D	0	.	12.5091	0.55997	0.0:0.9238:0.0:0.0761	.	363	Q7Z3Y7	K1C28_HUMAN	K	363	ENSP00000305263:R363K	ENSP00000305263:R363K	R	-	2	0	KRT28	36203715	0.383000	0.25156	0.729000	0.30791	0.953000	0.61014	4.970000	0.63742	2.846000	0.97976	0.650000	0.86243	AGA	KRT28	-	pfam_F,prints_Keratin_I		0.567	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950189	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.317	T
KRT20	54474	genome.wustl.edu	37	17	39041065	39041065	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39041065C>T	ENST00000167588.3	-	1	414	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	125	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CGCAGCTCTTCAATTTGTCTG	0.453																																																	0													90.0	88.0	89.0					17																	39041065		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.373G>A	17.37:g.39041065C>T	ENSP00000167588:p.Glu125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6W7	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E125K	ENST00000167588.3	37	c.373	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041713	0.35989	.	.	ENSG00000171431	ENST00000167588	D	0.89123	-2.47	5.5	-5.3	0.02738	Filament (1);	0.433927	0.21267	N	0.077390	T	0.80954	0.4723	L	0.43701	1.375	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.64499	-0.6393	10	0.59425	D	0.04	.	9.8465	0.41030	0.0:0.3068:0.5111:0.1821	.	125	P35900	K1C20_HUMAN	K	125	ENSP00000167588:E125K	ENSP00000167588:E125K	E	-	1	0	KRT20	36294591	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.718000	0.04980	-1.386000	0.02098	-0.878000	0.02970	GAA	KRT20	-	pfam_F		0.453	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	C			39041065	-1	no_errors	ENST00000167588	ensembl	human	known	70_37	missense	SNP	0.005	T
KRT37	8688	genome.wustl.edu	37	17	39577629	39577629	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39577629C>T	ENST00000225550.3	-	6	1230	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	411	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTGCAGTCCTCGCTCTCCAGA	0.547																																																	0													110.0	85.0	94.0					17																	39577629		2203	4300	6503	SO:0001583	missense	8688			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1231G>A	17.37:g.39577629C>T	ENSP00000225550:p.Glu411Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E411K	ENST00000225550.3	37	c.1231	CCDS32653.1	17	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442177	0.63067	.	.	ENSG00000108417	ENST00000225550	D	0.93366	-3.21	5.61	4.64	0.57946	Filament (1);	0.000000	0.49916	D	0.000126	D	0.93631	0.7966	H	0.95884	3.735	0.31746	N	0.635159	P	0.47841	0.901	B	0.34093	0.175	D	0.94118	0.7377	10	0.87932	D	0	.	9.416	0.38521	0.0:0.6711:0.2535:0.0754	.	411	O76014	KRT37_HUMAN	K	411	ENSP00000225550:E411K	ENSP00000225550:E411K	E	-	1	0	KRT37	36831155	0.871000	0.30034	0.884000	0.34674	0.878000	0.50629	3.719000	0.54926	1.372000	0.46190	0.655000	0.94253	GAG	KRT37	-	pfam_F		0.547	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	HGNC	protein_coding	OTTHUMT00000257714.2	C	NM_003770		39577629	-1	no_errors	ENST00000225550	ensembl	human	known	70_37	missense	SNP	0.981	T
KRT19	3880	genome.wustl.edu	37	17	39684455	39684455	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39684455G>A	ENST00000361566.3	-	1	105	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	15	Head.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCAGGCCTCCGAAGGACGACG	0.697																																																	0													9.0	11.0	10.0					17																	39684455		1978	3921	5899	SO:0001819	synonymous_variant	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.45C>T	17.37:g.39684455G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F15	ENST00000361566.3	37	c.45	CCDS11399.1	17																																																																																			KRT19	-	NULL		0.697	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	G	NM_002276		39684455	-1	no_errors	ENST00000361566	ensembl	human	known	70_37	silent	SNP	0.994	A
KRT75	9119	genome.wustl.edu	37	12	52827903	52827903	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:52827903G>C	ENST00000252245.5	-	1	406	c.186C>G	c.(184-186)ctC>ctG	p.L62L		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	62	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCAGGTTGTAGAGGCTGCGGC	0.637																																																	0													51.0	53.0	52.0					12																	52827903		2203	4300	6503	SO:0001819	synonymous_variant	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.186C>G	12.37:g.52827903G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQU4|Q9NSA9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L62	ENST00000252245.5	37	c.186	CCDS8827.1	12																																																																																			KRT75	-	NULL		0.637	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	G	NM_004693		52827903	-1	no_errors	ENST00000252245	ensembl	human	known	70_37	silent	SNP	1.000	C
KRT9	3857	genome.wustl.edu	37	17	39728212	39728212	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39728212C>G	ENST00000246662.4	-	1	98	c.33G>C	c.(31-33)ttG>ttC	p.L11F	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	11	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CGCTGCGGCTCAAGTAGGACG	0.652																																																	0													5.0	6.0	6.0					17																	39728212		2128	4188	6316	SO:0001583	missense	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.33G>C	17.37:g.39728212C>G	ENSP00000246662:p.Leu11Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.L11F	ENST00000246662.4	37	c.33	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928894	0.18131	.	.	ENSG00000171403	ENST00000246662	T	0.81078	-1.45	4.8	-2.43	0.06522	.	2.689480	0.01592	N	0.021614	T	0.67287	0.2877	N	0.12182	0.205	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.60439	-0.7263	10	0.87932	D	0	.	11.352	0.49594	0.0:0.3823:0.5352:0.0825	.	11	P35527	K1C9_HUMAN	F	11	ENSP00000246662:L11F	ENSP00000246662:L11F	L	-	3	2	KRT9	36981738	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.320000	0.02700	0.013000	0.14918	-0.282000	0.10007	TTG	KRT9	-	NULL		0.652	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	C	NM_000226		39728212	-1	no_errors	ENST00000246662	ensembl	human	known	70_37	missense	SNP	0.000	G
KRTAP20-1	337975	genome.wustl.edu	37	21	31988907	31988907	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:31988907C>G	ENST00000334664.2	+	1	158	c.134C>G	c.(133-135)tCt>tGt	p.S45C	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	45						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TACTGCCCATCTTGCTATGGA	0.468																																																	0													288.0	248.0	262.0					21																	31988907		2203	4300	6503	SO:0001583	missense	337975			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.134C>G	21.37:g.31988907C>G	ENSP00000335503:p.Ser45Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_KRTAP	p.S45C	ENST00000334664.2	37	c.134	CCDS13603.1	21	.	.	.	.	.	.	.	.	.	.	C	7.078	0.569669	0.13560	.	.	ENSG00000244624	ENST00000334664	T	0.12147	2.71	4.76	-3.61	0.04556	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.24701	0.055	T	0.43523	-0.9386	8	0.87932	D	0	.	0.3424	0.00335	0.2721:0.255:0.1338:0.3391	.	45	Q3LI63	KR201_HUMAN	C	45	ENSP00000335503:S45C	ENSP00000335503:S45C	S	+	2	0	KRTAP20-1	30910778	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.523000	0.06230	-0.500000	0.06614	0.643000	0.83706	TCT	KRTAP20-1	-	pfam_KRTAP		0.468	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	C			31988907	+1	no_errors	ENST00000334664	ensembl	human	known	70_37	missense	SNP	0.000	G
KRTAP5-3	387266	genome.wustl.edu	37	11	1629350	1629350	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1629350G>C	ENST00000399685.1	-	1	343	c.266C>G	c.(265-267)tCc>tGc	p.S89C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	89	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		ACAGCAGCTGGAGCCACAGCC	0.682																																																	0													42.0	62.0	55.0					11																	1629350		2184	4293	6477	SO:0001583	missense	387266			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.266C>G	11.37:g.1629350G>C	ENSP00000382592:p.Ser89Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PL44|Q701N3	Missense_Mutation	SNP	NULL	p.S89C	ENST00000399685.1	37	c.266	CCDS41591.1	11	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384649	0.25031	.	.	ENSG00000196224	ENST00000399685	T	0.01548	4.78	2.65	2.65	0.31530	.	.	.	.	.	T	0.04272	0.0118	M	0.85859	2.78	0.22811	N	0.99871	B	0.28850	0.225	B	0.26310	0.068	T	0.10428	-1.0630	9	0.56958	D	0.05	.	11.0603	0.47944	0.0:0.0:1.0:0.0	.	89	Q6L8H2	KRA53_HUMAN	C	89	ENSP00000382592:S89C	ENSP00000382592:S89C	S	-	2	0	KRTAP5-3	1585926	0.000000	0.05858	0.997000	0.53966	0.871000	0.50021	-0.122000	0.10627	1.496000	0.48567	0.289000	0.19496	TCC	KRTAP5-3	-	NULL		0.682	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	HGNC	protein_coding	OTTHUMT00000127924.1	G			1629350	-1	no_errors	ENST00000399685	ensembl	human	known	70_37	missense	SNP	0.998	C
KSR1	8844	genome.wustl.edu	37	17	25877623	25877623	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:25877623G>C	ENST00000319524.6	+	2	261	c.261G>C	c.(259-261)caG>caC	p.Q87H	KSR1_ENST00000398988.3_5'UTR|KSR1_ENST00000268763.6_5'UTR|KSR1_ENST00000509603.2_Missense_Mutation_p.Q87H			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	87					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q87Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTTGTAAGCAGAGGCAGTGCA	0.562																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												2	Substitution - coding silent(2)	NS(2)											235.0	221.0	225.0					17																	25877623		876	1991	2867	SO:0001583	missense	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.261G>C	17.37:g.25877623G>C	ENSP00000323178:p.Gln87His	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q87H	ENST00000319524.6	37	c.261		17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071394	0.76301	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	D;D	0.83914	-1.78;-1.75	4.79	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87389	0.2362	7	0.87932	D	0	.	10.6747	0.45778	0.0934:0.0:0.9066:0.0	.	.	.	.	H	87	ENSP00000323178:Q87H;ENSP00000438795:Q87H	ENSP00000323178:Q87H	Q	+	3	2	KSR1	22901750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.657000	0.37366	1.234000	0.43709	0.643000	0.83706	CAG	KSR1	-	NULL		0.562	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		G	NM_014238		25877623	+1	no_errors	ENST00000319524	ensembl	human	known	70_37	missense	SNP	1.000	C
KSR1	8844	genome.wustl.edu	37	17	25919586	25919586	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:25919586C>T	ENST00000319524.6	+	9	1233	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	KSR1_ENST00000398988.3_Silent_p.I274I|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Silent_p.I274I|KSR1_ENST00000509603.2_Silent_p.I411I			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	411					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCTCGGACATCAACAACCCGG	0.532																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													87.0	84.0	85.0					17																	25919586		1904	4118	6022	SO:0001819	synonymous_variant	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1233C>T	17.37:g.25919586C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WEA9|H7BYU0|Q13476	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I411	ENST00000319524.6	37	c.1233		17	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617901	0.28801	.	.	ENSG00000141068	ENST00000398988	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1628	0.54113	0.1708:0.8292:0.0:0.0	.	.	.	.	X	147	.	.	Q	+	1	0	KSR1	22943713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.238000	0.43070	2.258000	0.74832	0.591000	0.81541	CAA	KSR1	-	NULL		0.532	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		C	NM_014238		25919586	+1	no_errors	ENST00000319524	ensembl	human	known	70_37	silent	SNP	1.000	T
KRTAP9-3	83900	genome.wustl.edu	37	17	39389159	39389159	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39389159G>A	ENST00000411528.2	+	1	445	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	136	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCTGCTGTGAGACCACCTG	0.572																																																	0													116.0	144.0	135.0					17																	39389159		2101	4298	6399	SO:0001583	missense	83900			AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.406G>A	17.37:g.39389159G>A	ENSP00000392189:p.Glu136Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E136K	ENST00000411528.2	37	c.406	CCDS11385.1	17	.	.	.	.	.	.	.	.	.	.	.	8.220	0.802310	0.16397	.	.	ENSG00000204873	ENST00000411528	T	0.01359	4.98	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00468	0.0015	N	0.01168	-0.975	0.09310	N	1	.	.	.	.	.	.	T	0.41270	-0.9518	7	0.06099	T	0.92	.	3.8077	0.08783	0.1384:0.1749:0.5479:0.1387	.	.	.	.	K	136	ENSP00000392189:E136K	ENSP00000392189:E136K	E	+	1	0	KRTAP9-3	36642685	0.000000	0.05858	0.000000	0.03702	0.499000	0.33736	-0.586000	0.05787	-1.508000	0.01800	0.194000	0.17425	GAG	KRTAP9-3	-	NULL		0.572	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-3	HGNC	protein_coding	OTTHUMT00000257290.1	G			39389159	+1	no_errors	ENST00000411528	ensembl	human	known	70_37	missense	SNP	0.092	A
KTN1	3895	genome.wustl.edu	37	14	56103923	56103923	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:56103923G>A	ENST00000395314.3	+	11	1625	c.1557G>A	c.(1555-1557)caG>caA	p.Q519Q	KTN1_ENST00000395309.3_Silent_p.Q519Q|KTN1_ENST00000413890.2_Silent_p.Q519Q|KTN1_ENST00000438792.2_Silent_p.Q519Q|KTN1_ENST00000395311.1_Silent_p.Q519Q|KTN1_ENST00000416613.1_Silent_p.Q519Q|KTN1_ENST00000395308.1_Silent_p.Q519Q	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	519					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CAGATTTACAGAGTAAATTTG	0.363			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													66.0	68.0	67.0					14																	56103923		2201	4299	6500	SO:0001819	synonymous_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1557G>A	14.37:g.56103923G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	NULL	p.Q519	ENST00000395314.3	37	c.1557	CCDS41957.1	14																																																																																			KTN1	-	NULL		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56103923	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	silent	SNP	1.000	A
KTN1	3895	genome.wustl.edu	37	14	56103978	56103978	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:56103978G>C	ENST00000395314.3	+	11	1680	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	KTN1_ENST00000395309.3_Missense_Mutation_p.D538H|KTN1_ENST00000413890.2_Missense_Mutation_p.D538H|KTN1_ENST00000438792.2_Missense_Mutation_p.D538H|KTN1_ENST00000395311.1_Missense_Mutation_p.D538H|KTN1_ENST00000416613.1_Missense_Mutation_p.D538H|KTN1_ENST00000395308.1_Missense_Mutation_p.D538H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	538					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAAGCTTACAGATACCTTGGT	0.358			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													106.0	108.0	107.0					14																	56103978		2202	4300	6502	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1612G>C	14.37:g.56103978G>C	ENSP00000378725:p.Asp538His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.D538H	ENST00000395314.3	37	c.1612	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711428	0.68730	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.35	4.46	0.54185	.	0.134891	0.33772	N	0.004568	T	0.74680	0.3748	L	0.59436	1.845	0.43164	D	0.994954	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.75439	-0.3317	10	0.44086	T	0.13	-14.2814	14.0779	0.64903	0.0728:0.0:0.9272:0.0	.	538;538;538;538	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	H	538	ENSP00000394992:D538H;ENSP00000378720:D538H;ENSP00000391964:D538H;ENSP00000378725:D538H;ENSP00000378719:D538H;ENSP00000378722:D538H;ENSP00000388807:D538H	ENSP00000378719:D538H	D	+	1	0	KTN1	55173731	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.790000	0.85794	1.385000	0.46445	0.609000	0.83330	GAT	KTN1	-	NULL		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56103978	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMA2	3908	genome.wustl.edu	37	6	129704375	129704375	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:129704375G>A	ENST00000421865.2	+	35	5117	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1690	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGGGATGCAGAAGGTATTAG	0.448																																																	0													64.0	67.0	66.0					6																	129704375		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5068G>A	6.37:g.129704375G>A	ENSP00000400365:p.Glu1690Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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.E1690K	ENST00000421865.2	37	c.5068	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938709	0.34189	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.08634	3.07	5.55	5.55	0.83447	Laminin I (1);	0.232801	0.43747	D	0.000538	T	0.02929	0.0087	L	0.32530	0.975	0.41349	D	0.987352	P;B	0.36086	0.536;0.364	B;B	0.34873	0.191;0.084	T	0.50448	-0.8827	10	0.15499	T	0.54	.	13.1289	0.59369	0.0736:0.0:0.9264:0.0	.	1690;1690	A6NF00;P24043	.;LAMA2_HUMAN	K	1690	ENSP00000400365:E1690K	ENSP00000346769:E1690K	E	+	1	0	LAMA2	129746068	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.436000	0.66538	2.770000	0.95276	0.563000	0.77884	GAA	LAMA2	-	pfam_Laminin_I		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129704375	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	A
L3MBTL3	84456	genome.wustl.edu	37	6	130389552	130389552	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:130389552G>C	ENST00000529410.1	+	14	1557	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E335Q|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E360Q|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E335Q|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E335Q|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E360Q			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	360					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GTCATTATTTGAAAATCAGAA	0.338																																																	0													90.0	92.0	91.0					6																	130389552		2203	4298	6501	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1078G>C	6.37:g.130389552G>C	ENSP00000431962:p.Glu360Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.E360Q	ENST00000529410.1	37	c.1078	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	G	12.35	1.913120	0.33815	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.84	5.84	0.93424	.	0.170618	0.56097	D	0.000036	T	0.66858	0.2832	N	0.22421	0.69	0.37607	D	0.920783	D;P	0.54397	0.966;0.607	B;B	0.41412	0.356;0.059	T	0.69932	-0.5011	10	0.29301	T	0.29	.	13.3468	0.60578	0.0718:0.0:0.9282:0.0	.	335;360	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	Q	360;335;360;335;335;360	ENSP00000431962:E360Q;ENSP00000437185:E335Q;ENSP00000354526:E360Q;ENSP00000357121:E335Q;ENSP00000436706:E335Q;ENSP00000357118:E360Q	ENSP00000354526:E360Q	E	+	1	0	L3MBTL3	130431245	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.299000	0.51826	2.763000	0.94921	0.557000	0.71058	GAA	L3MBTL3	-	smart_Mbt,pfscan_Mbt		0.338	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	G	XM_027074		130389552	+1	no_errors	ENST00000361794	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMA3	3909	genome.wustl.edu	37	18	21511047	21511047	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:21511047C>G	ENST00000313654.9	+	65	8699	c.8458C>G	c.(8458-8460)Ctg>Gtg	p.L2820V	LAMA3_ENST00000399516.3_Missense_Mutation_p.L2764V|LAMA3_ENST00000269217.6_Missense_Mutation_p.L1211V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.L1155V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2820	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					GCAGGTCACTCTGGAAGATGG	0.388																																																	0													135.0	134.0	134.0					18																	21511047		2203	4300	6503	SO:0001583	missense	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.8458C>G	18.37:g.21511047C>G	ENSP00000324532:p.Leu2820Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	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.L2820V	ENST00000313654.9	37	c.8458	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504363	0.64410	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	D;D;D	0.84730	-1.89;-1.89;-1.89	5.57	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.91713	0.7380	M	0.87097	2.86	0.42188	D	0.991712	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.974;0.999	D	0.90797	0.4691	9	0.87932	D	0	.	7.5471	0.27772	0.0:0.7448:0.1672:0.088	.	1155;1211;2764;2820	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2820;2764;1211	ENSP00000324532:L2820V;ENSP00000382432:L2764V;ENSP00000269217:L1211V	ENSP00000269217:L1211V	L	+	1	2	LAMA3	19765045	0.923000	0.31300	0.998000	0.56505	0.992000	0.81027	1.413000	0.34725	0.712000	0.32039	0.655000	0.94253	CTG	LAMA3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129		21511047	+1	no_errors	ENST00000313654	ensembl	human	known	70_37	missense	SNP	0.996	G
LAP3	51056	genome.wustl.edu	37	4	17608478	17608478	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:17608478C>T	ENST00000226299.4	+	12	1561	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.V398V	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	429					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGGACCGTGTCTGGAGGATGC	0.448																																																	0													151.0	137.0	142.0					4																	17608478		2203	4300	6503	SO:0001819	synonymous_variant	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1287C>T	4.37:g.17608478C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.V429	ENST00000226299.4	37	c.1287	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_C		0.448	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	C			17608478	+1	no_errors	ENST00000226299	ensembl	human	known	70_37	silent	SNP	0.989	T
LARP1	23367	genome.wustl.edu	37	5	154179226	154179226	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:154179226C>T	ENST00000336314.4	+	9	1246	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	485	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGTGGCCTCTTCCCCCAAT	0.507																																																	0													137.0	134.0	135.0					5																	154179226		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1222C>T	5.37:g.154179226C>T	ENSP00000336721:p.Leu408Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.L408F	ENST00000336314.4	37	c.1222	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130395	0.77549	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.95	5.95	0.96441	RNA-binding protein Lupus La (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.08118	0	0.58432	D	0.999996	D;D	0.65815	0.995;0.991	P;D	0.66979	0.893;0.948	T	0.52071	-0.8624	10	0.72032	D	0.01	-14.5588	14.5295	0.67915	0.0:0.9306:0.0:0.0694	.	485;408	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	F	408;485;280;193;92	ENSP00000336721:L408F;ENSP00000428589:L485F;ENSP00000429904:L280F;ENSP00000430438:L193F;ENSP00000431072:L92F	ENSP00000336721:L408F	L	+	1	0	LARP1	154159419	0.950000	0.32346	1.000000	0.80357	0.990000	0.78478	1.582000	0.36568	2.824000	0.97209	0.655000	0.94253	CTT	LARP1	-	pfscan_Lupus_La_RNA-bd		0.507	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154179226	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	T
LARP1	23367	genome.wustl.edu	37	5	154190876	154190876	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:154190876C>G	ENST00000336314.4	+	17	2706	c.2682C>G	c.(2680-2682)ttC>ttG	p.F894L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	971					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGACATATTCAAGGATTTTC	0.473																																																	0													117.0	112.0	114.0					5																	154190876		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2682C>G	5.37:g.154190876C>G	ENSP00000336721:p.Phe894Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.F894L	ENST00000336314.4	37	c.2682	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670793	0.88348	.	.	ENSG00000155506	ENST00000336314	T	0.35421	1.31	6.04	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.72624	2.21	0.58432	D	0.999996	P;P	0.52463	0.573;0.953	B;P	0.57101	0.303;0.813	T	0.47649	-0.9101	10	0.51188	T	0.08	-13.803	9.0128	0.36150	0.0:0.7117:0.0:0.2883	.	971;894	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	L	894	ENSP00000336721:F894L	ENSP00000336721:F894L	F	+	3	2	LARP1	154171069	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.168000	0.31859	0.810000	0.34279	0.561000	0.74099	TTC	LARP1	-	smart_DM15		0.473	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154190876	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	G
LARP6	55323	genome.wustl.edu	37	15	71128790	71128790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:71128790C>T	ENST00000299213.8	-	2	325	c.255G>A	c.(253-255)tgG>tgA	p.W85*		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	85					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CCGGGGGCTTCCACTCCTGCT	0.517																																																	0													92.0	94.0	94.0					15																	71128790		2199	4297	6496	SO:0001587	stop_gained	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.255G>A	15.37:g.71128790C>T	ENSP00000299213:p.Trp85*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XKE4|Q8N3N2|Q9NUR0	Nonsense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.W85*	ENST00000299213.8	37	c.255	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.485005	0.96323	.	.	ENSG00000166173	ENST00000299213	.	.	.	5.58	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-18.9077	13.6477	0.62292	0.0:0.8437:0.1563:0.0	.	.	.	.	X	85	.	ENSP00000299213:W85X	W	-	3	0	LARP6	68915844	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.627000	0.88993	0.655000	0.94253	TGG	LARP6	-	NULL		0.517	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	C	NM_018357		71128790	-1	no_errors	ENST00000299213	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LARS	51520	genome.wustl.edu	37	5	145509623	145509623	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145509623G>C	ENST00000394434.2	-	25	2752	c.2586C>G	c.(2584-2586)ttC>ttG	p.F862L	LARS_ENST00000274562.9_Missense_Mutation_p.F835L|LARS_ENST00000510191.1_Missense_Mutation_p.F808L|LARS_ENST00000545646.1_Missense_Mutation_p.F816L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	862					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AATGTGGACAGAATGGAGCGA	0.433																																																	0													120.0	100.0	107.0					5																	145509623		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2586C>G	5.37:g.145509623G>C	ENSP00000377954:p.Phe862Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.F862L	ENST00000394434.2	37	c.2586	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964517	0.53507	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.56	5.56	0.83823	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.045455	0.85682	D	0.000000	T	0.12475	0.0303	N	0.16862	0.45	0.39568	D	0.96923	B;B;B	0.12630	0.001;0.006;0.002	B;B;B	0.15870	0.004;0.013;0.014	T	0.07214	-1.0784	10	0.48119	T	0.1	-12.4481	14.3808	0.66908	0.0:0.0:0.8521:0.1479	.	835;816;862	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	L	862;816;171;808;835	ENSP00000377954:F862L;ENSP00000437791:F816L;ENSP00000426005:F808L;ENSP00000274562:F835L	ENSP00000274562:F835L	F	-	3	2	LARS	145489816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.881000	0.56152	2.619000	0.88677	0.557000	0.71058	TTC	LARS	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_arc/euk		0.433	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	G	NM_020117		145509623	-1	no_errors	ENST00000394434	ensembl	human	known	70_37	missense	SNP	1.000	C
LATS1	9113	genome.wustl.edu	37	6	150001486	150001486	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:150001486C>A	ENST00000543571.1	-	5	2665	c.2118G>T	c.(2116-2118)gtG>gtT	p.V706V	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.V706V	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCTTTATCTTCACAAACATAG	0.363																																																	0													94.0	102.0	99.0					6																	150001486		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2118G>T	6.37:g.150001486C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.V706	ENST00000543571.1	37	c.2118	CCDS34551.1	6																																																																																			LATS1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.363	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		150001486	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	silent	SNP	0.995	A
LATS1	9113	genome.wustl.edu	37	6	150001559	150001559	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:150001559C>G	ENST00000543571.1	-	5	2592	c.2045G>C	c.(2044-2046)aGa>aCa	p.R682T	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R682T	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGCATCTTTCTCATTTGATC	0.323																																																	0													80.0	87.0	85.0					6																	150001559		2198	4294	6492	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2045G>C	6.37:g.150001559C>G	ENSP00000437550:p.Arg682Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R682T	ENST00000543571.1	37	c.2045	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541582	0.85917	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68025	-0.3;-0.3	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000007	T	0.80003	0.4544	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.79422	-0.1810	9	.	.	.	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	682	O95835	LATS1_HUMAN	T	682	ENSP00000437550:R682T;ENSP00000253339:R682T	.	R	-	2	0	LATS1	150043252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.732000	0.93576	0.557000	0.71058	AGA	LATS1	-	NULL		0.323	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		150001559	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	G
LDB2	9079	genome.wustl.edu	37	4	16590405	16590405	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:16590405C>G	ENST00000304523.5	-	4	782	c.459G>C	c.(457-459)atG>atC	p.M153I	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Missense_Mutation_p.M29I|LDB2_ENST00000441778.2_Missense_Mutation_p.M153I|LDB2_ENST00000502640.1_Missense_Mutation_p.M153I|LDB2_ENST00000515064.1_Missense_Mutation_p.M153I	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	153					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTTTGATTCTCATGAGATCAT	0.403																																																	0													204.0	175.0	185.0					4																	16590405		2203	4300	6503	SO:0001583	missense	9079			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.459G>C	4.37:g.16590405C>G	ENSP00000306772:p.Met153Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O60619|O75480	Missense_Mutation	SNP	NULL	p.M153I	ENST00000304523.5	37	c.459	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.165188|5.165188	0.94768|0.94768	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178;ENST00000506732|ENST00000507464	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83321|.	0.5229|.	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D;P|.	0.76494|.	0.991;0.705;0.993;0.999;0.991;0.964;0.956|.	D;P;D;D;P;D;D|.	0.85130|.	0.992;0.708;0.93;0.997;0.885;0.989;0.98|.	D|.	0.85095|.	0.0954|.	9|.	0.59425|.	D|.	0.04|.	-16.0754|-16.0754	18.4277|18.4277	0.90614|0.90614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	29;119;153;153;153;153;129|.	B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3|.	.;.;.;.;.;LDB2_HUMAN;.|.	I|S	153;153;153;153;29;129|75	.|.	ENSP00000306772:M153I|.	M|X	-|-	3|2	0|2	LDB2|LDB2	16199503|16199503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	ATG|TGA	LDB2	-	NULL		0.403	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	C			16590405	-1	no_errors	ENST00000304523	ensembl	human	known	70_37	missense	SNP	1.000	G
LDHC	3948	genome.wustl.edu	37	11	18451395	18451395	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:18451395C>T	ENST00000541669.1	+	4	467	c.356C>T	c.(355-357)tCa>tTa	p.S119L	LDHC_ENST00000544105.1_Missense_Mutation_p.S119L|LDHC_ENST00000280704.4_Missense_Mutation_p.S119L|LDHC_ENST00000536880.1_Missense_Mutation_p.S105L|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.S119L|LDHC_ENST00000537486.1_Missense_Mutation_p.S119L			P07864	LDHC_HUMAN	lactate dehydrogenase C	119				S -> I (in Ref. 1; AAA59507). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATAATGAAATCAATCATTCCT	0.423																																																	0													140.0	125.0	130.0					11																	18451395		2199	4293	6492	SO:0001583	missense	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.356C>T	11.37:g.18451395C>T	ENSP00000437783:p.Ser119Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.S119L	ENST00000541669.1	37	c.356	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105731	0.08780	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880;ENST00000537486;ENST00000544105;ENST00000535809	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.67	1.57	0.23409	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.338514	0.28338	N	0.015718	T	0.81054	0.4743	L	0.52364	1.645	0.23016	N	0.998429	B;B;B	0.33171	0.4;0.024;0.0	B;B;B	0.30855	0.121;0.012;0.005	T	0.65261	-0.6211	10	0.15952	T	0.53	-1.1164	7.0431	0.25031	0.0:0.4763:0.0:0.5237	.	119;119;119	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	L	119;119;105;119;119;119	ENSP00000437783:S119L;ENSP00000280704:S119L;ENSP00000439555:S105L;ENSP00000441478:S119L;ENSP00000439060:S119L;ENSP00000443997:S119L	ENSP00000280704:S119L	S	+	2	0	LDHC	18407971	0.130000	0.22417	0.990000	0.47175	0.002000	0.02628	0.151000	0.16283	0.533000	0.28675	-0.258000	0.10820	TCA	LDHC	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.423	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	C	NM_017448		18451395	+1	no_errors	ENST00000280704	ensembl	human	known	70_37	missense	SNP	0.989	T
LEMD2	221496	genome.wustl.edu	37	6	33746118	33746118	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:33746118C>T	ENST00000293760.5	-	6	1076	c.1057G>A	c.(1057-1059)Gtg>Atg	p.V353M	LEMD2_ENST00000508327.1_Missense_Mutation_p.V51M|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	353					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AGGCAGACCACCTTGTCCACA	0.567																																																	0													128.0	120.0	123.0					6																	33746118		2203	4300	6503	SO:0001583	missense	221496				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1057G>A	6.37:g.33746118C>T	ENSP00000293760:p.Val353Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.V353M	ENST00000293760.5	37	c.1057	CCDS4785.1	6	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850170	0.71719	.	.	ENSG00000161904	ENST00000293760;ENST00000508327;ENST00000513701	.	.	.	5.65	2.87	0.33458	Inner nuclear membrane protein MAN1 (1);	0.115120	0.38548	N	0.001657	T	0.56292	0.1975	M	0.69823	2.125	0.36939	D	0.892272	P;P	0.51147	0.942;0.713	P;P	0.60012	0.867;0.538	T	0.59343	-0.7472	9	0.54805	T	0.06	-9.1324	7.2928	0.26376	0.1296:0.6791:0.1246:0.0667	.	353;314	Q8NC56;A8MS91	LEMD2_HUMAN;.	M	353;51;51	.	ENSP00000293760:V353M	V	-	1	0	LEMD2	33854096	0.992000	0.36948	0.987000	0.45799	0.995000	0.86356	2.717000	0.47227	0.299000	0.22661	0.655000	0.94253	GTG	LEMD2	-	pfam_Inner-Nucl-membr_MAN1		0.567	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	HGNC	protein_coding	OTTHUMT00000040209.3	C	XM_166338		33746118	-1	no_errors	ENST00000293760	ensembl	human	known	70_37	missense	SNP	0.998	T
LEO1	123169	genome.wustl.edu	37	15	52244147	52244147	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52244147C>G	ENST00000299601.5	-	9	1565	c.1505G>C	c.(1504-1506)aGa>aCa	p.R502T	LEO1_ENST00000315141.5_Missense_Mutation_p.R442T	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	502					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGTCATCTTTCTATGTGTGGC	0.448																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													164.0	135.0	145.0					15																	52244147		2195	4293	6488	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1505G>C	15.37:g.52244147C>G	ENSP00000299601:p.Arg502Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.R502T	ENST00000299601.5	37	c.1505	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.102901	0.94245	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80847	2.515	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.67725	0.941;0.953	D	0.84595	0.0669	9	0.72032	D	0.01	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	442;502	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	T	502;480;442	.	ENSP00000299601:R502T	R	-	2	0	LEO1	50031439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.654000	0.90174	0.650000	0.86243	AGA	LEO1	-	pfam_Leo1		0.448	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	C	NM_138792		52244147	-1	no_errors	ENST00000299601	ensembl	human	known	70_37	missense	SNP	1.000	G
LEPRE1	64175	genome.wustl.edu	37	1	43217983	43217983	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:43217983C>T	ENST00000296388.5	-	10	1582	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	LEPRE1_ENST00000236040.4_Missense_Mutation_p.E511K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E511K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	511					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGAACTTTTCATTGGGAGTA	0.537																																																	0													110.0	98.0	102.0					1																	43217983		2203	4300	6503	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1531G>A	1.37:g.43217983C>T	ENSP00000296388:p.Glu511Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E511K	ENST00000296388.5	37	c.1531	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	c	33	5.249941	0.95305	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.50001	0.79;0.76;0.98	4.96	4.96	0.65561	Prolyl 4-hydroxylase, alpha subunit (1);	0.151155	0.64402	D	0.000018	T	0.65852	0.2731	M	0.84948	2.725	0.52099	D	0.999947	D;P;P	0.53745	0.962;0.9;0.952	P;B;P	0.54060	0.741;0.435;0.606	T	0.73026	-0.4112	10	0.87932	D	0	-22.1034	15.7411	0.77899	0.0:1.0:0.0:0.0	.	511;376;511	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	K	511;511;511;376	ENSP00000380245:E511K;ENSP00000236040:E511K;ENSP00000296388:E511K	ENSP00000236040:E511K	E	-	1	0	LEPRE1	42990570	1.000000	0.71417	0.351000	0.25721	0.957000	0.61999	7.317000	0.79018	2.595000	0.87683	0.457000	0.33378	GAA	LEPRE1	-	smart_Pro_4_hyd_alph		0.537	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	C	NM_022356		43217983	-1	no_errors	ENST00000236040	ensembl	human	known	70_37	missense	SNP	0.995	T
LGI3	203190	genome.wustl.edu	37	8	22009023	22009023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22009023G>A	ENST00000306317.2	-	7	1097	c.808C>T	c.(808-810)Cga>Tga	p.R270*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.R246*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	270					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TCATAGTCTCGAAGCTGCCGC	0.577																																																	0													101.0	107.0	105.0					8																	22009023		2203	4300	6503	SO:0001587	stop_gained	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.808C>T	8.37:g.22009023G>A	ENSP00000302297:p.Arg270*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLP2|Q86TL4|Q8N296	Nonsense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R270*	ENST00000306317.2	37	c.808	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.895097	0.97916	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	.	.	.	5.11	5.11	0.69529	.	0.067691	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8938	11.1817	0.48631	0.0:0.0:0.8164:0.1836	.	.	.	.	X	270;246	.	ENSP00000302297:R270X	R	-	1	2	LGI3	22064968	0.844000	0.29557	1.000000	0.80357	0.906000	0.53458	1.555000	0.36277	2.365000	0.80145	0.650000	0.86243	CGA	LGI3	-	pfam_EPTP,pfscan_EAR		0.577	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	G			22009023	-1	no_errors	ENST00000306317	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LGR6	59352	genome.wustl.edu	37	1	202288144	202288144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:202288144C>T	ENST00000367278.3	+	18	2802	c.2713C>T	c.(2713-2715)Cag>Tag	p.Q905*	LGR6_ENST00000439764.2_Nonsense_Mutation_p.Q766*|LGR6_ENST00000255432.7_Nonsense_Mutation_p.Q853*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	905					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATCTCCTGTCAGCAGCCAGG	0.607																																																	0													44.0	51.0	49.0					1																	202288144		2203	4300	6503	SO:0001587	stop_gained	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2713C>T	1.37:g.202288144C>T	ENSP00000356247:p.Gln905*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.Q905*	ENST00000367278.3	37	c.2713	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.581215	0.97680	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	.	.	.	4.83	4.83	0.62350	.	0.296382	0.32548	N	0.005947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.68	0.85289	0.0:1.0:0.0:0.0	.	.	.	.	X	905;853;766	.	ENSP00000255432:Q853X	Q	+	1	0	LGR6	200554767	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	4.825000	0.62708	2.688000	0.91661	0.485000	0.47835	CAG	LGR6	-	NULL		0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	C	NM_021636		202288144	+1	no_errors	ENST00000367278	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LHFPL4	375323	genome.wustl.edu	37	3	9543896	9543896	+	Silent	SNP	C	C	T	rs201579364		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9543896C>T	ENST00000287585.6	-	4	1028	c.743G>A	c.(742-744)tGa>tAa	p.*248*	RP11-58B17.2_ENST00000602693.1_lincRNA	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	0						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCTGGCCTTTCAGGGTCCCTG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17774	0.0		0.001	False		,,,				2504	0.0																0													47.0	43.0	45.0					3																	9543896		2203	4300	6503	SO:0001819	synonymous_variant	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.743G>A	3.37:g.9543896C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.*248	ENST00000287585.6	37	c.743	CCDS33691.1	3																																																																																			LHFPL4	-	NULL		0.587	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	HGNC	protein_coding	OTTHUMT00000338298.1	C	NM_198560		9543896	-1	no_errors	ENST00000287585	ensembl	human	known	70_37	silent	SNP	1.000	T
LHX3	8022	genome.wustl.edu	37	9	139092469	139092469	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139092469G>A	ENST00000371748.5	-	2	306	c.210C>T	c.(208-210)ttC>ttT	p.F70F	LHX3_ENST00000371746.3_Silent_p.F75F	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	70	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCCCTCGGCTGAAGCAGCGCT	0.622																																																	0													80.0	61.0	68.0					9																	139092469		2203	4300	6503	SO:0001819	synonymous_variant	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.210C>T	9.37:g.139092469G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.F75	ENST00000371748.5	37	c.225	CCDS6994.1	9																																																																																			LHX3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.622	LHX3-001	KNOWN	basic|CCDS	protein_coding	LHX3	HGNC	protein_coding	OTTHUMT00000055048.3	G			139092469	-1	no_errors	ENST00000371746	ensembl	human	known	70_37	silent	SNP	1.000	A
LIMS1	3987	genome.wustl.edu	37	2	109276125	109276125	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:109276125G>A	ENST00000393310.1	+	2	228	c.61G>A	c.(61-63)Gag>Aag	p.E21K	LIMS1_ENST00000410093.1_Missense_Mutation_p.E25K|LIMS1_ENST00000332345.6_Missense_Mutation_p.E21K|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000542845.1_Missense_Mutation_p.E83K|LIMS1_ENST00000409441.1_Missense_Mutation_p.E58K|LIMS1_ENST00000338045.3_Missense_Mutation_p.E21K|LIMS1_ENST00000544547.1_Missense_Mutation_p.E33K|LIMS1_ENST00000393314.2_Missense_Mutation_p.E83K	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	21	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TGCGCCCGCTGAGAAGATCGT	0.577																																																	0													174.0	129.0	144.0					2																	109276125		2203	4300	6503	SO:0001583	missense	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.61G>A	2.37:g.109276125G>A	ENSP00000376987:p.Glu21Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.E83K	ENST00000393310.1	37	c.247	CCDS2078.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.598548	0.96614	.	.	ENSG00000169756	ENST00000544547;ENST00000428064;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845;ENST00000393314	D;D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.63	4.63	0.57726	Zinc finger, LIM-type (5);	0.077333	0.49305	D	0.000156	D	0.95595	0.8568	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.998;0.996	D;D;D;D	0.71414	0.973;0.954;0.96;0.933	D	0.97190	0.9857	10	0.87932	D	0	.	17.6679	0.88208	0.0:0.0:1.0:0.0	.	83;58;21;33	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	K	33;33;21;21;25;58;21;83;83	ENSP00000437912:E33K;ENSP00000390862:E33K;ENSP00000331775:E21K;ENSP00000376987:E21K;ENSP00000386926:E25K;ENSP00000387264:E58K;ENSP00000337598:E21K;ENSP00000446121:E83K;ENSP00000376990:E83K	ENSP00000331775:E21K	E	+	1	0	LIMS1	108642557	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	9.652000	0.98499	2.392000	0.81423	0.563000	0.77884	GAG	LIMS1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM		0.577	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	G	NM_004987		109276125	+1	no_errors	ENST00000542845	ensembl	human	known	70_37	missense	SNP	1.000	A
LINC00152	112597	genome.wustl.edu	37	2	112125137	112125137	+	IGR	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:112125137G>T								MIR4435-2 (46469 upstream) : AC068491.3 (16245 downstream)																							AGCCTTTGCTGATCCACTTTG	0.353																																																	0																																										SO:0001628	intergenic_variant	112597																															2.37:g.112125137G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			AC068491.1	-	-	0	0.353					LINC00152	Clone_based_vega_gene			G			112125137	-1	no_errors	ENST00000432818	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00461	645323	genome.wustl.edu	37	5	87962631	87962631	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:87962631C>T	ENST00000384838.1	-	0	174					NR_030741.1				long intergenic non-protein coding RNA 461																		TACTGTCTCTCGGCTGTAGTC	0.373																																																	0													26.0	23.0	24.0					5																	87962631		1568	3578	5146			645323					5q14.3	2014-01-14			ENSG00000245526	ENSG00000245526		"""Long non-coding RNAs"""	42810	non-coding RNA	RNA, long non-coding							Standard	NR_015436		Approved	EyeLinc1, Visc-1a, Visc-1b	uc003kjg.3		OTTHUMG00000162632		5.37:g.87962631C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384838.1	37	NULL		5																																																																																			LINC00461	-	-		0.373	LINC00461-201	KNOWN	basic	miRNA	LINC00461	HGNC	lincRNA		C			87962631	-1	no_errors	ENST00000500197	ensembl	human	known	70_37	rna	SNP	0.887	T
LINC00671	388387	genome.wustl.edu	37	17	41031653	41031653	+	lincRNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41031653C>G	ENST00000301683.3	-	0	555									long intergenic non-protein coding RNA 671																		AGACTCATCTCCACCTTGCCC	0.612																																																	0													28.0	35.0	33.0					17																	41031653		692	1591	2283			388387			AK055784, BC122868, DC361857		17q21.31	2012-10-12			ENSG00000213373	ENSG00000213373		"""Long non-coding RNAs"""	44339	non-coding RNA	RNA, long non-coding							Standard	NR_027254		Approved		uc010whe.1		OTTHUMG00000132654		17.37:g.41031653C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000301683.3	37	NULL		17																																																																																			LINC00671	-	-		0.612	LINC00671-001	KNOWN	basic	lincRNA	LINC00671	HGNC	lincRNA	OTTHUMT00000255905.2	C	NR_027254		41031653	-1	no_errors	ENST00000301683	ensembl	human	known	70_37	rna	SNP	0.021	G
LINC00469	283982	genome.wustl.edu	37	17	71819832	71819832	+	lincRNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:71819832C>G	ENST00000321800.7	-	0	205							Q8N7U9	CQ054_HUMAN	long intergenic non-protein coding RNA 469																		CTCACCTCCTCCATCGCTTGC	0.483																																																	0																																												283982			AK097638		17q25.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000177338	ENSG00000177338		"""Long non-coding RNAs"""	26863	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 54"""	C17orf54			Standard	NR_027146		Approved	FLJ40319	uc010dfo.2	Q8N7U9	OTTHUMG00000167833		17.37:g.71819832C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q495E4	RNA	SNP	-	NULL	ENST00000321800.7	37	NULL		17																																																																																			LINC00469	-	-		0.483	LINC00469-001	KNOWN	basic	lincRNA	LINC00469	HGNC	lincRNA	OTTHUMT00000396490.1	C	NM_182564		71819832	-1	no_errors	ENST00000321800	ensembl	human	known	70_37	rna	SNP	0.000	G
LINC00680	100996497	genome.wustl.edu	37	6	58276103	58276103	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:58276103C>T	ENST00000422882.1	-	0	574									long intergenic non-protein coding RNA 680																		tattaaccatcacaGcctgtt	0.468																																																	0																																												0			BC011838, BC017330		6p11.2	2012-10-12			ENSG00000215190	ENSG00000215190		"""Long non-coding RNAs"""	44417	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000014928		6.37:g.58276103C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000422882.1	37	NULL		6																																																																																			LINC00680	-	-		0.468	LINC00680-002	KNOWN	basic	processed_transcript	LINC00680	HGNC	processed_transcript	OTTHUMT00000041055.1	C			58276103	-1	no_errors	ENST00000422882	ensembl	human	known	70_37	rna	SNP	0.427	T
LIPE	3991	genome.wustl.edu	37	19	42931144	42931144	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42931144G>A	ENST00000244289.4	-	1	434	c.158C>T	c.(157-159)tCa>tTa	p.S53L	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	53					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTTTGGTTTGAAGCAGGCTT	0.527																																																	0													137.0	135.0	136.0					19																	42931144		2203	4300	6503	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.158C>T	19.37:g.42931144G>A	ENSP00000244289:p.Ser53Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.S53L	ENST00000244289.4	37	c.158	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153264	0.06585	.	.	ENSG00000079435	ENST00000244289	T	0.23348	1.91	4.48	1.14	0.20703	.	1.901940	0.03084	N	0.158932	T	0.20292	0.0488	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30592	-0.9973	10	0.59425	D	0.04	-0.6562	8.1276	0.31008	0.2745:0.0:0.7255:0.0	.	53	Q05469	LIPS_HUMAN	L	53	ENSP00000244289:S53L	ENSP00000244289:S53L	S	-	2	0	LIPE	47622984	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.663000	0.25053	0.239000	0.21243	0.563000	0.77884	TCA	LIPE	-	NULL		0.527	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	G	NM_005357		42931144	-1	no_errors	ENST00000244289	ensembl	human	known	70_37	missense	SNP	0.001	A
LLGL2	3993	genome.wustl.edu	37	17	73560506	73560506	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73560506C>G	ENST00000392550.3	+	10	1071	c.954C>G	c.(952-954)atC>atG	p.I318M	LLGL2_ENST00000578363.1_Missense_Mutation_p.I318M|LLGL2_ENST00000577200.1_Missense_Mutation_p.I318M|LLGL2_ENST00000167462.5_Missense_Mutation_p.I318M|LLGL2_ENST00000375227.4_Missense_Mutation_p.I318M	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	318					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTCAGTGATCCACGATGGCC	0.637																																																	0													66.0	60.0	62.0					17																	73560506		2203	4300	6503	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.954C>G	17.37:g.73560506C>G	ENSP00000376333:p.Ile318Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.I318M	ENST00000392550.3	37	c.954	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221190	0.22457	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.28666	3.61;3.73;1.6	5.12	3.06	0.35304	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.575162	0.20018	N	0.100965	T	0.19167	0.0460	N	0.15975	0.35	0.29337	N	0.866306	P;P;B;B;B	0.40211	0.707;0.659;0.003;0.013;0.013	P;P;B;B;B	0.49922	0.626;0.492;0.016;0.043;0.061	T	0.24048	-1.0171	10	0.02654	T	1	-16.7732	4.2108	0.10510	0.1375:0.5966:0.1339:0.132	.	307;307;318;318;318	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	M	318;318;318;307	ENSP00000167462:I318M;ENSP00000376333:I318M;ENSP00000364375:I318M	ENSP00000167462:I318M	I	+	3	3	LLGL2	71072101	0.004000	0.15560	0.102000	0.21198	0.886000	0.51366	-0.079000	0.11357	1.258000	0.44101	0.561000	0.74099	ATC	LLGL2	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant		0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	C	NM_004524		73560506	+1	no_errors	ENST00000392550	ensembl	human	known	70_37	missense	SNP	0.942	G
LMLN	89782	genome.wustl.edu	37	3	197748331	197748331	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:197748331C>T	ENST00000330198.4	+	13	1402	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	LMLN_ENST00000420910.2_Silent_p.L497L|LMLN_ENST00000482695.1_Silent_p.L445L|LMLN_ENST00000332636.5_Silent_p.L408L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	460					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTGATGAACTCAGTGGAATAC	0.408																																																	0													160.0	162.0	161.0					3																	197748331		2203	4300	6503	SO:0001819	synonymous_variant	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1380C>T	3.37:g.197748331C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	pfam_Peptidase_M8	p.L460	ENST00000330198.4	37	c.1380	CCDS3332.1	3																																																																																			LMLN	-	pfam_Peptidase_M8		0.408	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	C	NM_033029		197748331	+1	no_errors	ENST00000330198	ensembl	human	known	70_37	silent	SNP	0.987	T
LMO3	55885	genome.wustl.edu	37	12	16753787	16753787	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:16753787G>C	ENST00000320122.6	-	2	530	c.8C>G	c.(7-9)tCa>tGa	p.S3*	LMO3_ENST00000540445.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000541295.1_Nonsense_Mutation_p.S21*|LMO3_ENST00000540848.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000535535.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000537304.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000447609.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000541846.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000441439.2_Nonsense_Mutation_p.S3*|LMO3_ENST00000354662.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000261169.6_Nonsense_Mutation_p.S14*|LMO3_ENST00000534946.1_Nonsense_Mutation_p.S3*	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TGGCTGGACTGAGAGCATTTG	0.413																																																	0													53.0	52.0	52.0					12																	16753787		2203	4300	6503	SO:0001587	stop_gained	55885			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.8C>G	12.37:g.16753787G>C	ENSP00000312856:p.Ser3*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S21*	ENST00000320122.6	37	c.62	CCDS8678.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.791034	0.96945	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051;ENST00000545436;ENST00000540590;ENST00000538020	.	.	.	5.92	5.92	0.95590	.	0.132417	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.0911	0.72195	0.0:0.0:0.8583:0.1416	.	.	.	.	X	3;3;3;3;14;3;3;3;3;21;3;3;3;3;3;3;3;3;3;3;3	.	ENSP00000261169:S14X	S	-	2	0	LMO3	16645054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.494000	0.81503	2.810000	0.96702	0.585000	0.79938	TCA	LMO3	-	NULL		0.413	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	G	NM_018640		16753787	-1	no_errors	ENST00000541295	ensembl	human	known	70_37	nonsense	SNP	1.000	C
LNX1	84708	genome.wustl.edu	37	4	54439888	54439888	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:54439888G>A	ENST00000263925.7	-	2	596	c.282C>T	c.(280-282)gtC>gtT	p.V94V	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	94					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAGTTTGTTGACCAGGATGC	0.562																																																	0													56.0	49.0	51.0					4																	54439888		1568	3582	5150	SO:0001819	synonymous_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.282C>T	4.37:g.54439888G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.V94	ENST00000263925.7	37	c.282	CCDS47057.1	4																																																																																			LNX1	-	NULL		0.562	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	G			54439888	-1	no_errors	ENST00000263925	ensembl	human	known	70_37	silent	SNP	0.994	A
NINJ2	4815	genome.wustl.edu	37	12	752531	752531	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:752531G>A	ENST00000305108.4	-	1	452				RP11-218M22.1_ENST00000537514.1_RNA|RP11-218M22.1_ENST00000318291.4_RNA|NINJ2_ENST00000542920.1_Intron|RP11-218M22.1_ENST00000543884.1_RNA|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Intron	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2						nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TGGCGTTCCTGAGTCCGCGGA	0.731																																																	0																																										SO:0001627	intron_variant	100049716			AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.171+19962C>T	12.37:g.752531G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000305108.4	37	NULL	CCDS8505.1	12																																																																																			RP11-218M22.1	-	-		0.731	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100049716	Clone_based_vega_gene	protein_coding	OTTHUMT00000206673.2	G	NM_016533		752531	+1	no_errors	ENST00000318291	ensembl	human	known	70_37	rna	SNP	0.000	A
LOC100128239	100128239	genome.wustl.edu	37	11	133902198	133902198	+	lincRNA	SNP	C	C	T	rs576777573	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:133902198C>T	ENST00000533922.1	+	0	32					NR_027276.1																						ATGGGGGAGACGCAGAGAAGC	0.517													C|||	4	0.000798722	0.0015	0.0	5008	,	,		21048	0.0		0.001	False		,,,				2504	0.001																0																																												100128239																															11.37:g.133902198C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000533922.1	37	NULL		11																																																																																			RP11-713P17.3	-	-		0.517	RP11-713P17.3-001	KNOWN	mRNA_end_NF|basic	lincRNA	LOC100128239	Clone_based_vega_gene	lincRNA	OTTHUMT00000393290.1	C			133902198	+1	no_errors	ENST00000533922	ensembl	human	known	70_37	rna	SNP	0.000	T
VPS9D1	9605	genome.wustl.edu	37	16	89784167	89784167	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89784167C>T	ENST00000389386.3	-	3	300				VPS9D1_ENST00000561976.1_Intron|ZNF276_ENST00000446326.2_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CCCAACTCCTCAATCTTGGAG	0.622																																																	0																																										SO:0001627	intron_variant	100128881			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.176-937G>A	16.37:g.89784167C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000389386.3	37	NULL	CCDS42220.1	16																																																																																			RP11-368I7.2	-	-		0.622	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LOC100128881	Clone_based_vega_gene	protein_coding	OTTHUMT00000422508.1	C	NM_004913		89784167	+1	no_errors	ENST00000562298	ensembl	human	known	70_37	rna	SNP	0.000	T
VPS9D1	9605	genome.wustl.edu	37	16	89784301	89784301	+	Intron	SNP	C	C	G	rs35778150		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89784301C>G	ENST00000389386.3	-	3	300				VPS9D1_ENST00000561976.1_Intron|ZNF276_ENST00000446326.2_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCCAGGGGCTCCCCCGACCTC	0.672													c|||	1	0.000199681	0.0	0.0	5008	,	,		14275	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	100128881			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.176-1071G>C	16.37:g.89784301C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000389386.3	37	NULL	CCDS42220.1	16																																																																																			RP11-368I7.2	-	-		0.672	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LOC100128881	Clone_based_vega_gene	protein_coding	OTTHUMT00000422508.1	C	NM_004913		89784301	+1	no_errors	ENST00000562298	ensembl	human	known	70_37	rna	SNP	0.000	G
FAM13B	51306	genome.wustl.edu	37	5	137372052	137372052	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137372052C>T	ENST00000500267.2	+	0	350				RP11-325L7.2_ENST00000506911.1_lincRNA																							tcaggcacctcttgcccgaac	0.537											OREG0016817	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												100130172																															5.37:g.137372052C>T		Somatic	1633	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000500267.2	37	NULL		5																																																																																			RP11-325L7.1	-	-		0.537	RP11-325L7.1-001	KNOWN	basic	antisense	LOC100130172	Clone_based_vega_gene	antisense	OTTHUMT00000372158.1	C			137372052	+1	no_errors	ENST00000500267	ensembl	human	known	70_37	rna	SNP	0.039	T
AP001372.2	0	genome.wustl.edu	37	11	74208931	74208931	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:74208931C>T	ENST00000526036.1	+	0	1846																											agcatgcattcataacagagc	0.343																																																	0													32.0	31.0	31.0					11																	74208931		692	1591	2283			100287896																															11.37:g.74208931C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000526036.1	37	NULL		11																																																																																			AP001372.2	-	-		0.343	AP001372.2-001	KNOWN	basic	lincRNA	LOC100287896	Clone_based_vega_gene	lincRNA	OTTHUMT00000317865.2	C			74208931	+1	no_errors	ENST00000526036	ensembl	human	known	70_37	rna	SNP	0.437	T
GPAA1P2	106481722	genome.wustl.edu	37	2	111144867	111144867	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:111144867G>A	ENST00000488671.1	-	0	648				AC112229.4_ENST00000606848.1_RNA																							ACAAAATCATGAGCAGCAGTG	0.582																																																	0																																												100288570																															2.37:g.111144867G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000488671.1	37	NULL		2																																																																																			RP13-1039J1.2	-	-		0.582	RP13-1039J1.4-001	KNOWN	not_organism_supported|basic|readthrough_transcript	processed_transcript	LOC100288570	Clone_based_vega_gene	processed_transcript	OTTHUMT00000472131.1	G			111144867	-1	no_errors	ENST00000488671	ensembl	human	known	70_37	rna	SNP	1.000	A
MAMDC2	256691	genome.wustl.edu	37	9	72787575	72787575	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:72787575C>T	ENST00000377182.4	+	11	2268				MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2						peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATTTGGCCTCAATAGTGATG	0.458																																																	0																																										SO:0001627	intron_variant	100507244			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1651+2028C>T	9.37:g.72787575C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VW47|Q8WX43|Q96BM4	RNA	SNP	-	NULL	ENST00000377182.4	37	NULL	CCDS6631.1	9																																																																																			RP11-195E11.2	-	-		0.458	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507244	Clone_based_vega_gene	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72787575	-1	no_errors	ENST00000420573	ensembl	human	known	70_37	rna	SNP	0.022	T
FOXM1	2305	genome.wustl.edu	37	12	2964607	2964607	+	IGR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:2964607G>C	ENST00000359843.3	-	0	3315				AC005841.1_ENST00000382678.3_Silent_p.V33V	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1						cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGCTGGCCTGGACCATCTAGG	0.632																																																	0																																										SO:0001628	intergenic_variant	100996378			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118		12.37:g.2964607G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	NULL	p.V33	ENST00000359843.3	37	c.99	CCDS8515.1	12																																																																																			AC005841.1	-	NULL		0.632	FOXM1-002	KNOWN	basic|CCDS	protein_coding	LOC100996378	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000398272.1	G	NM_021953		2964607	-1	no_errors	ENST00000382678	ensembl	human	known	70_37	silent	SNP	0.034	C
Unknown	0	genome.wustl.edu	37	1	243219215	243219215	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:243219215G>A								RP11-261C10.2 (7389 upstream) : RNU6-747P (25242 downstream)																							AGAGGCTGCCGAAAGGCAGGA	0.642																																																	0																																										SO:0001628	intergenic_variant	100996554																															1.37:g.243219215G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		1																																																																																			RP11-261C10.3	-	-	0	0.642					LOC100996554	Clone_based_vega_gene			G			243219215	-1	no_errors	ENST00000418377	ensembl	human	known	70_37	rna	SNP	0.996	A
FAM230A	653203	genome.wustl.edu	37	22	20710188	20710188	+	Silent	SNP	G	G	T	rs369390051		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20710188G>T	ENST00000434783.3	+	8	2104	c.1920G>T	c.(1918-1920)tcG>tcT	p.S640S	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		TAACGAGGTCGCCGCCCAGGG	0.716																																																	0																																										SO:0001819	synonymous_variant	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1920G>T	22.37:g.20710188G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.S640	ENST00000434783.3	37	c.1920		22																																																																																			AC007731.1	-	superfamily_Kinase-like_dom		0.716	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	G			20710188	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	silent	SNP	0.003	T
LOC146880	146880	genome.wustl.edu	37	17	62758538	62758538	+	RNA	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:62758538C>A	ENST00000400873.3	-	0	1407					NR_026899.1																						GGGTGATAGTCAGTCTCAGAG	0.418																																																	0																																												146880																															17.37:g.62758538C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000400873.3	37	NULL		17																																																																																			hsa-mir-6080	-	-		0.418	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	LOC146880	miRBase	processed_transcript		C			62758538	-1	no_errors	ENST00000400873	ensembl	human	known	70_37	rna	SNP	0.992	A
EIF4B	1975	genome.wustl.edu	37	12	53438312	53438312	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:53438312C>T	ENST00000262056.9	+	0	4148				RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000546767.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|RP11-983P16.4_ENST00000607643.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_5'Flank	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCACACCTTCAAATCCTCCC	0.592																																																	0																																										SO:0001628	intergenic_variant	283335			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570		12.37:g.53438312C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	RNA	SNP	-	NULL	ENST00000262056.9	37	NULL	CCDS41788.1	12																																																																																			RP11-983P16.4	-	-		0.592	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC283335	Clone_based_vega_gene	protein_coding	OTTHUMT00000404852.2	C	NM_001417		53438312	-1	no_errors	ENST00000546793	ensembl	human	known	70_37	rna	SNP	0.002	T
LOC400794	400794	genome.wustl.edu	37	1	165551154	165551154	+	RNA	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:165551154G>C	ENST00000438275.1	-	0	211				RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA																							CCTAGGTTTTGAAGATTATGC	0.567																																																	0																																												400794																															1.37:g.165551154G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000438275.1	37	NULL		1																																																																																			RP11-280O1.2	-	-		0.567	RP11-280O1.2-002	KNOWN	non_canonical_TEC|basic	antisense	LOC400794	Clone_based_vega_gene	antisense	OTTHUMT00000083787.1	G			165551154	-1	no_errors	ENST00000416424	ensembl	human	known	70_37	rna	SNP	1.000	C
LOC645752	645752	genome.wustl.edu	37	15	78207622	78207622	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:78207622C>T	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA																							GTGCAGGCTCCACATTGTTGT	0.612																																																	0																																												645752																															15.37:g.78207622C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.612	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	C			78207622	-1	no_errors	ENST00000563349	ensembl	human	known	70_37	rna	SNP	0.399	T
LOC645752	645752	genome.wustl.edu	37	15	78213762	78213762	+	lincRNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:78213762G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							ATTGCAGGCGGCCAGCCAGAT	0.537																																																	0																																												645752																															15.37:g.78213762G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.537	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	G			78213762	-1	no_errors	ENST00000567226	ensembl	human	known	70_37	rna	SNP	0.050	A
LINC00839	84856	genome.wustl.edu	37	10	42971067	42971067	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:42971067C>T	ENST00000429940.2	+	0	77					NR_026827.1				long intergenic non-protein coding RNA 839																		CCAGGCACCACGTGCCTGCAC	0.642																																																	0																																												84856					10q11.21	2012-12-20			ENSG00000185904	ENSG00000185904		"""Long non-coding RNAs"""	28269	protein-coding gene	gene with protein product						12477932	Standard	NR_026827		Approved		uc001izy.3		OTTHUMG00000018010		10.37:g.42971067C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429940.2	37	NULL		10																																																																																			RP11-178A10.1	-	-		0.642	LINC00839-001	KNOWN	basic	lincRNA	LOC84856	Clone_based_vega_gene	lincRNA	OTTHUMT00000047672.2	C	NR_026827		42971067	+1	no_errors	ENST00000332123	ensembl	human	known	70_37	rna	SNP	0.042	T
LOXL2	4017	genome.wustl.edu	37	8	23159627	23159627	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:23159627G>C	ENST00000389131.3	-	12	2415	c.2046C>G	c.(2044-2046)acC>acG	p.T682T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	682	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCAGCCCATGGTGATGCCCT	0.592																																																	0													169.0	128.0	142.0					8																	23159627		2203	4300	6503	SO:0001819	synonymous_variant	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2046C>G	8.37:g.23159627G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.T682	ENST00000389131.3	37	c.2046	CCDS34864.1	8																																																																																			LOXL2	-	pfam_Lysyl_oxidase,prints_Lysyl_oxidase		0.592	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	G			23159627	-1	no_errors	ENST00000389131	ensembl	human	known	70_37	silent	SNP	0.998	C
LPHN2	23266	genome.wustl.edu	37	1	82416115	82416115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:82416115C>T	ENST00000370728.1	+	9	2086	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q419*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q481*			O95490	LPHN2_HUMAN	latrophilin 2	481					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAAGTGGCCTCAGACACAAAG	0.403																																																	0													92.0	93.0	93.0					1																	82416115		2203	4300	6503	SO:0001587	stop_gained	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1441C>T	1.37:g.82416115C>T	ENSP00000359763:p.Gln481*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Q481*	ENST00000370728.1	37	c.1441		1	.	.	.	.	.	.	.	.	.	.	C	44	11.081428	0.99513	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	.	.	.	X	419;481;481;481;481;481;481;481;481;481;481;481;481;481	.	ENSP00000271029:Q481X	Q	+	1	0	LPHN2	82188703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.782000	0.95742	0.655000	0.94253	CAG	LPHN2	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	C	NM_012302		82416115	+1	no_errors	ENST00000370717	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LRCH2	57631	genome.wustl.edu	37	X	114357165	114357165	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:114357165G>C	ENST00000317135.8	-	20	2133	c.2103C>G	c.(2101-2103)ccC>ccG	p.P701P	LRCH2_ENST00000538422.1_Silent_p.P684P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	701	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TGCTCAGTTTGGGCTGTAAAG	0.318																																																	0													84.0	70.0	74.0					X																	114357165		1808	4077	5885	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2103C>G	X.37:g.114357165G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P701	ENST00000317135.8	37	c.2103	CCDS48155.1	X																																																																																			LRCH2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.318	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114357165	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	silent	SNP	1.000	C
LRFN3	79414	genome.wustl.edu	37	19	36430545	36430545	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36430545C>T	ENST00000588831.1	+	3	1272	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRFN3_ENST00000246529.3_Missense_Mutation_p.S73F			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	73					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCATCGCCTCCGTGCGCCGC	0.706																																																	0													14.0	15.0	15.0					19																	36430545		2154	4205	6359	SO:0001583	missense	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.218C>T	19.37:g.36430545C>T	ENSP00000466989:p.Ser73Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UY10	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S73F	ENST00000588831.1	37	c.218	CCDS12483.1	19	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347265	0.24426	.	.	ENSG00000126243	ENST00000246529	T	0.58358	0.34	4.44	3.39	0.38822	.	0.685267	0.12022	N	0.506857	T	0.46795	0.1411	M	0.66560	2.04	0.09310	N	1	P	0.37207	0.587	B	0.39738	0.308	T	0.35822	-0.9773	10	0.10377	T	0.69	.	6.1972	0.20555	0.0:0.7875:0.0:0.2125	.	73	Q9BTN0	LRFN3_HUMAN	F	73	ENSP00000246529:S73F	ENSP00000246529:S73F	S	+	2	0	LRFN3	41122385	0.000000	0.05858	0.026000	0.17262	0.924000	0.55760	-0.777000	0.04669	2.201000	0.70794	0.557000	0.71058	TCC	LRFN3	-	NULL		0.706	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	HGNC	protein_coding	OTTHUMT00000457403.2	C	NM_024509		36430545	+1	no_errors	ENST00000246529	ensembl	human	known	70_37	missense	SNP	0.000	T
LRIF1	55791	genome.wustl.edu	37	1	111506249	111506249	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:111506249G>A	ENST00000369763.4	-	1	452	c.62C>T	c.(61-63)tCg>tTg	p.S21L	LRIF1_ENST00000485275.2_5'UTR|RP11-96K19.5_ENST00000609118.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTACCAACGCGAGGCGTTGCC	0.547											OREG0013667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54.0	49.0	51.0					1																	111506249		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.62C>T	1.37:g.111506249G>A	ENSP00000358778:p.Ser21Leu	Somatic	1435	WXS	Illumina HiSeq	Phase_IV	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.S21L	ENST00000369763.4	37	c.62	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836050	0.50951	.	.	ENSG00000121931	ENST00000369763	T	0.23950	1.88	4.34	4.34	0.51931	.	0.558906	0.15977	N	0.235502	T	0.09512	0.0234	N	0.24115	0.695	0.80722	D	1	P	0.39920	0.695	B	0.35312	0.2	T	0.07790	-1.0754	10	0.87932	D	0	.	12.5257	0.56085	0.0:0.0:1.0:0.0	.	21	Q5T3J3	LRIF1_HUMAN	L	21	ENSP00000358778:S21L	ENSP00000358778:S21L	S	-	2	0	LRIF1	111307772	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	3.926000	0.56491	2.413000	0.81919	0.655000	0.94253	TCG	LRIF1	-	NULL		0.547	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	G	NM_018372		111506249	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	1.000	A
LRIG3	121227	genome.wustl.edu	37	12	59308076	59308076	+	Missense_Mutation	SNP	G	G	C	rs571495948		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:59308076G>C	ENST00000320743.3	-	2	564	c.278C>G	c.(277-279)tCc>tGc	p.S93C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S33C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	93					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTGGCTCATGGAACTTGCCTT	0.323			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													111.0	118.0	115.0					12																	59308076		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.278C>G	12.37:g.59308076G>C	ENSP00000326759:p.Ser93Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S93C	ENST00000320743.3	37	c.278	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683953	0.68157	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.31769	1.78;1.48	6.07	6.07	0.98685	.	0.000000	0.34906	N	0.003586	T	0.45498	0.1345	M	0.71920	2.185	0.38427	D	0.946331	D;P	0.54601	0.967;0.947	P;P	0.52267	0.694;0.628	T	0.43766	-0.9371	9	.	.	.	.	14.2203	0.65823	0.0761:0.0:0.9239:0.0	.	33;93	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	C	33;93	ENSP00000368436:S33C;ENSP00000326759:S93C	.	S	-	2	0	LRIG3	57594343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.915000	0.63355	2.885000	0.99019	0.655000	0.94253	TCC	LRIG3	-	smart_Leu-rich_rpt_typical-subtyp		0.323	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	G	NM_153377		59308076	-1	no_errors	ENST00000320743	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC1	55227	genome.wustl.edu	37	6	53784275	53784276	+	Intron	INS	-	-	TA	rs45473902|rs397775204|rs200083989|rs562020383|rs59865937|rs371290750	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:53784275_53784276insTA	ENST00000370888.1	+	12	1383				RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCTCtttttttaaaaaaaaaaa	0.371																																																	0																																										SO:0001627	intron_variant	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1107-20->TA	6.37:g.53784275_53784276insTA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	RNA	INS	-	NULL	ENST00000370888.1	37	NULL	CCDS4953.2	6																																																																																			LRRC1	-	-		0.371	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	-	NM_025168		53784276	+1	no_errors	ENST00000490222	ensembl	human	known	70_37	rna	INS	0.012:0.001	TA
LRRC16A	55604	genome.wustl.edu	37	6	25551207	25551207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:25551207C>T	ENST00000329474.6	+	27	2766	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	800					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCCCACATTCGACAAGACTT	0.428																																																	0													179.0	173.0	175.0					6																	25551207		1965	4159	6124	SO:0001587	stop_gained	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2398C>T	6.37:g.25551207C>T	ENSP00000331983:p.Arg800*	Somatic		WXS	Illumina HiSeq	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R800*	ENST00000329474.6	37	c.2398	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.533727	0.99423	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5484	0.68050	0.1468:0.8531:0.0:0.0	.	.	.	.	X	800	.	ENSP00000331983:R800X	R	+	1	2	LRRC16A	25659186	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.275000	0.58927	2.423000	0.82170	0.650000	0.86243	CGA	LRRC16A	-	NULL		0.428	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25551207	+1	no_errors	ENST00000329474	ensembl	human	novel	70_37	nonsense	SNP	1.000	T
LRRC23	10233	genome.wustl.edu	37	12	7016621	7016621	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:7016621G>A	ENST00000007969.8	+	5	841				LRRC23_ENST00000323702.5_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.W211*|LRRC23_ENST00000443597.2_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TAGCTCACTGGGTCAGagggt	0.527																																																	0													71.0	64.0	67.0					12																	7016621		2203	4300	6503	SO:0001627	intron_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.621+12G>A	12.37:g.7016621G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt	p.W211*	ENST00000007969.8	37	c.633	CCDS8569.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.217132	0.98143	.	.	ENSG00000010626	ENST00000433346	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.24069	N	0.995989	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.7423	0.51801	0.0:0.0:0.8245:0.1755	.	.	.	.	X	211	.	ENSP00000402554:W211X	W	+	3	0	LRRC23	6886882	0.770000	0.28543	0.164000	0.22755	0.705000	0.40729	1.781000	0.38644	2.474000	0.83562	0.462000	0.41574	TGG	LRRC23	-	NULL		0.527	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	G	NM_006992		7016621	+1	no_errors	ENST00000433346	ensembl	human	putative	70_37	nonsense	SNP	0.025	A
LRRD1	401387	genome.wustl.edu	37	7	91793610	91793610	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:91793610G>C	ENST00000458448.1	-	2	1107	c.907C>G	c.(907-909)Cca>Gca	p.P303A	LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.P303A|LRRD1_ENST00000343318.5_Intron|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000454089.2_5'UTR			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	303					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						ATTAACTTTGGAAGGAAGCAG	0.328																																																	0													18.0	16.0	17.0					7																	91793610		692	1583	2275	SO:0001583	missense	401387			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.907C>G	7.37:g.91793610G>C	ENSP00000405987:p.Pro303Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.P303A	ENST00000458448.1	37	c.907	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693143	0.48202	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.59364	0.27;0.27	5.91	3.14	0.36123	.	.	.	.	.	T	0.45756	0.1358	N	0.21097	0.63	0.80722	D	1	P	0.52842	0.956	P	0.48770	0.589	T	0.18493	-1.0335	9	0.20046	T	0.44	.	9.448	0.38710	0.2706:0.0:0.7294:0.0	.	303	A4D1F6	LRRD1_HUMAN	A	303	ENSP00000405987:P303A;ENSP00000411568:P303A	ENSP00000411568:P303A	P	-	1	0	LRRD1	91631546	1.000000	0.71417	0.992000	0.48379	0.911000	0.54048	1.982000	0.40638	0.851000	0.35264	0.650000	0.86243	CCA	LRRD1	-	smart_Leu-rich_rpt_typical-subtyp		0.328	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	G	NM_001045475		91793610	-1	no_errors	ENST00000430130	ensembl	human	known	70_37	missense	SNP	0.997	C
LRRD1	401387	genome.wustl.edu	37	7	91794384	91794384	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:91794384C>T	ENST00000458448.1	-	2	333	c.133G>A	c.(133-135)Gat>Aat	p.D45N	LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.D45N|LRRD1_ENST00000343318.5_Intron|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000454089.2_5'UTR			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	45					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						TCCAGGTAATCAGAAGCTTCG	0.353																																																	0													93.0	79.0	83.0					7																	91794384		692	1591	2283	SO:0001583	missense	401387			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.133G>A	7.37:g.91794384C>T	ENSP00000405987:p.Asp45Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.D45N	ENST00000458448.1	37	c.133	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319304	0.23994	.	.	ENSG00000240720	ENST00000458448;ENST00000430130;ENST00000437357	T;T	0.37411	1.2;1.2	5.41	0.292	0.15737	.	.	.	.	.	T	0.19406	0.0466	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.19946	0.027	T	0.21484	-1.0244	9	0.35671	T	0.21	.	3.3297	0.07080	0.1145:0.4334:0.2927:0.1594	.	45	A4D1F6	LRRD1_HUMAN	N	45	ENSP00000405987:D45N;ENSP00000411568:D45N	ENSP00000411568:D45N	D	-	1	0	LRRD1	91632320	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.390000	0.07332	0.060000	0.16281	-0.181000	0.13052	GAT	LRRD1	-	NULL		0.353	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	C	NM_001045475		91794384	-1	no_errors	ENST00000430130	ensembl	human	known	70_37	missense	SNP	0.000	T
LRRIQ1	84125	genome.wustl.edu	37	12	85546833	85546833	+	Nonsense_Mutation	SNP	C	C	G	rs371713800		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:85546833C>G	ENST00000393217.2	+	21	4512	c.4451C>G	c.(4450-4452)tCa>tGa	p.S1484*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGATACTTCATTTAATTTA	0.279																																																	0													75.0	72.0	73.0					12																	85546833		1810	4054	5864	SO:0001587	stop_gained	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4451C>G	12.37:g.85546833C>G	ENSP00000376910:p.Ser1484*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.S1484*	ENST00000393217.2	37	c.4451	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.100821	0.98063	.	.	ENSG00000133640	ENST00000393217	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2217	0.54437	0.0:0.9199:0.0:0.0801	.	.	.	.	X	1484	.	ENSP00000376910:S1484X	S	+	2	0	LRRIQ1	84070964	0.890000	0.30428	0.152000	0.22495	0.037000	0.13140	2.585000	0.46111	1.312000	0.45043	0.585000	0.79938	TCA	LRRIQ1	-	NULL		0.279	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	C	NM_032165		85546833	+1	no_errors	ENST00000393217	ensembl	human	known	70_37	nonsense	SNP	0.875	G
LRRK1	79705	genome.wustl.edu	37	15	101569240	101569240	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:101569240C>T	ENST00000388948.3	+	20	3125	c.2766C>T	c.(2764-2766)ctC>ctT	p.L922L	LRRK1_ENST00000284395.5_Silent_p.L919L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTACTTCCTCGACCCTATTT	0.552																																																	0													85.0	90.0	88.0					15																	101569240		1914	4129	6043	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2766C>T	15.37:g.101569240C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.L922	ENST00000388948.3	37	c.2766	CCDS42086.1	15																																																																																			LRRK1	-	NULL		0.552	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101569240	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	silent	SNP	0.811	T
LRRN2	10446	genome.wustl.edu	37	1	204588128	204588128	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:204588128G>C	ENST00000367175.1	-	1	3205	c.993C>G	c.(991-993)ttC>ttG	p.F331L	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.F331L|LRRN2_ENST00000367177.3_Missense_Mutation_p.F331L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	331					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCAGGTGGTGGAAGGCGCGGG	0.602																																																	0													71.0	58.0	62.0					1																	204588128		2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.993C>G	1.37:g.204588128G>C	ENSP00000356143:p.Phe331Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F331L	ENST00000367175.1	37	c.993	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209486	0.58343	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67698	-0.28;-0.28;-0.28	5.69	4.77	0.60923	.	0.000000	0.45126	D	0.000387	T	0.72285	0.3441	L	0.37697	1.125	0.47476	D	0.999434	D	0.89917	1.0	D	0.91635	0.999	T	0.74284	-0.3715	10	0.87932	D	0	.	9.8171	0.40860	0.1599:0.0:0.8401:0.0	.	331	O75325	LRRN2_HUMAN	L	331	ENSP00000356144:F331L;ENSP00000356145:F331L;ENSP00000356143:F331L	ENSP00000356143:F331L	F	-	3	2	LRRN2	202854751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.566000	0.60843	1.381000	0.46364	0.563000	0.77884	TTC	LRRN2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.602	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	G	NM_006338		204588128	-1	no_errors	ENST00000367175	ensembl	human	known	70_37	missense	SNP	0.998	C
LRRN4	164312	genome.wustl.edu	37	20	6033301	6033301	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:6033301C>T	ENST00000378858.4	-	2	369	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	49					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGCAGCCCCTCGCAGGGCGAG	0.731																																																	0													5.0	6.0	5.0					20																	6033301		1801	3651	5452	SO:0001583	missense	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.145G>A	20.37:g.6033301C>T	ENSP00000368135:p.Glu49Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E49K	ENST00000378858.4	37	c.145	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067738	0.36470	.	.	ENSG00000125872	ENST00000378858	T	0.57436	0.4	5.42	2.42	0.29668	.	0.620936	0.15267	N	0.271485	T	0.29945	0.0749	L	0.35288	1.05	0.09310	N	1	B;P	0.39352	0.349;0.669	B;B	0.25140	0.058;0.058	T	0.10706	-1.0618	10	0.14252	T	0.57	-5.7675	7.5962	0.28050	0.0:0.6102:0.2528:0.137	.	49;49	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	K	49	ENSP00000368135:E49K	ENSP00000368135:E49K	E	-	1	0	LRRN4	5981301	0.734000	0.28142	0.671000	0.29857	0.525000	0.34531	1.224000	0.32539	0.345000	0.23873	-0.224000	0.12420	GAG	LRRN4	-	NULL		0.731	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	C	NM_152611		6033301	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	missense	SNP	0.171	T
LRRTM3	347731	genome.wustl.edu	37	10	68686978	68686978	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:68686978G>C	ENST00000361320.4	+	2	882	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	102					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAATATTGACGAAAATGCTTT	0.358																																																	0													99.0	103.0	102.0					10																	68686978		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.304G>C	10.37:g.68686978G>C	ENSP00000355187:p.Glu102Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E102Q	ENST00000361320.4	37	c.304	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117590	0.37339	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04502	3.61	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000004	T	0.11836	0.0288	L	0.35341	1.055	0.52501	D	0.99995	D;P	0.52996	0.957;0.947	P;P	0.59948	0.832;0.866	T	0.22382	-1.0218	10	0.27785	T	0.31	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	102;102	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	Q	102	ENSP00000355187:E102Q	ENSP00000355187:E102Q	E	+	1	0	LRRTM3	68356984	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.682000	0.84083	2.543000	0.85770	0.655000	0.94253	GAA	LRRTM3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.358	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68686978	+1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	C
LSG1	55341	genome.wustl.edu	37	3	194380810	194380810	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:194380810C>T	ENST00000265245.5	-	6	888	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	192	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACCAAATCCTCACATCTAAAC	0.433																																																	0													121.0	107.0	112.0					3																	194380810		2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.574G>A	3.37:g.194380810C>T	ENSP00000265245:p.Glu192Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.E192K	ENST00000265245.5	37	c.574	CCDS33922.1	3	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638366	0.47153	.	.	ENSG00000041802	ENST00000265245	D	0.83591	-1.74	5.24	2.39	0.29439	.	0.378431	0.29093	N	0.013173	T	0.68201	0.2975	L	0.38692	1.165	0.26402	N	0.976403	P	0.39920	0.695	B	0.35607	0.206	T	0.57568	-0.7789	10	0.28530	T	0.3	.	3.8076	0.08783	0.116:0.3825:0.3566:0.1448	.	192	Q9H089	LSG1_HUMAN	K	192	ENSP00000265245:E192K	ENSP00000265245:E192K	E	-	1	0	LSG1	195862099	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.979000	0.40608	0.396000	0.25283	-0.169000	0.13324	GAG	LSG1	-	NULL		0.433	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	C	NM_018385		194380810	-1	no_errors	ENST00000265245	ensembl	human	known	70_37	missense	SNP	0.972	T
NAA38	84316	genome.wustl.edu	37	17	7760387	7760387	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7760387C>A	ENST00000335155.5	-	2	210	c.211G>T	c.(211-213)Gac>Tac	p.D71Y	CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000333775.5_Missense_Mutation_p.D119Y|LSMD1_ENST00000576384.1_Missense_Mutation_p.D19Y|LSMD1_ENST00000575208.1_Missense_Mutation_p.D19Y|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575071.1_Missense_Mutation_p.D19Y|LSMD1_ENST00000575771.1_Missense_Mutation_p.D19Y|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000576861.1_Missense_Mutation_p.D45Y			Q9BRA0	LSMD1_HUMAN		71					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CAGTCACGGTCAGTGCAGAGG	0.627											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)												0													99.0	97.0	98.0					17																	7760387		2203	4300	6503	SO:0001583	missense	84316																														ENST00000335155.5:c.211G>T	17.37:g.7760387C>A	ENSP00000335611:p.Asp71Tyr	Somatic	644	WXS	Illumina HiSeq	Phase_IV	Q8N4M0	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.D119Y	ENST00000335155.5	37	c.355		17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450208	0.84101	.	.	ENSG00000183011	ENST00000333775;ENST00000335155	T;T	0.80653	-1.4;-1.4	5.39	4.42	0.53409	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.104089	0.64402	D	0.000005	D	0.92476	0.7611	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94225	0.7471	10	0.87932	D	0	-7.9095	13.2979	0.60307	0.0:0.9219:0.0:0.0781	.	119;71	Q9BRA0-2;Q9BRA0	.;LSMD1_HUMAN	Y	119;71	ENSP00000332103:D119Y;ENSP00000335611:D71Y	ENSP00000332103:D119Y	D	-	1	0	LSMD1	7701112	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	5.482000	0.66833	1.289000	0.44618	0.448000	0.29417	GAC	LSMD1	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.627	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	LSMD1	HGNC	protein_coding		C			7760387	-1	no_errors	ENST00000333775	ensembl	human	known	70_37	missense	SNP	0.999	A
LTA	4049	genome.wustl.edu	37	6	31541299	31541299	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31541299C>G	ENST00000454783.1	+	4	705	c.447C>G	c.(445-447)ctC>ctG	p.L149L	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Silent_p.L149L	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	149					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TGCCTCTCCTCAGCTCCCAGA	0.612																																																	0													175.0	165.0	169.0					6																	31541299		2203	4300	6503	SO:0001819	synonymous_variant	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.447C>G	6.37:g.31541299C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4C3|Q9UKS8	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c	p.L149	ENST00000454783.1	37	c.447	CCDS4701.1	6																																																																																			LTA	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c		0.612	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA	HGNC	protein_coding	OTTHUMT00000259097.1	C			31541299	+1	no_errors	ENST00000418386	ensembl	human	known	70_37	silent	SNP	1.000	G
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139059158	139059158	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:139059158C>G	ENST00000354926.4	+	2	415				LUC7L2_ENST00000541515.3_Intron|C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55-LUC7L2_ENST00000263545.6_5'Flank	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TTCAATGTATCTATGCCTGCC	0.413																																																	0																																										SO:0001627	intron_variant	51631				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.62-1650C>G	7.37:g.139059158C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L25V	ENST00000354926.4	37	c.73	CCDS43656.1	7																																																																																			LUC7L2	-	NULL		0.413	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2	C			139059158	+1	no_errors	ENST00000456182	ensembl	human	known	70_37	missense	SNP	1.000	G
LYPD5	284348	genome.wustl.edu	37	19	44302734	44302734	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44302734G>A	ENST00000377950.3	-	4	470	c.390C>T	c.(388-390)ctC>ctT	p.L130L	AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Silent_p.L87L|LYPD5_ENST00000594013.1_Silent_p.L87L	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	130						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				CGGCGCCGCTGAGCGTCGGCG	0.677																																																	0													56.0	51.0	53.0					19																	44302734		2203	4300	6503	SO:0001819	synonymous_variant	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.390C>T	19.37:g.44302734G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PEX9|Q96DR2	Silent	SNP	pfam_LY6_UPAR	p.L130	ENST00000377950.3	37	c.390	CCDS46096.1	19																																																																																			LYPD5	-	NULL		0.677	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	G	NM_182573		44302734	-1	no_errors	ENST00000377950	ensembl	human	known	70_37	silent	SNP	1.000	A
LYPD6B	130576	genome.wustl.edu	37	2	150071114	150071114	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:150071114C>G	ENST00000409029.1	+	7	644	c.442C>G	c.(442-444)Cac>Gac	p.H148D	LYPD6B_ENST00000409876.1_Missense_Mutation_p.H148D|LYPD6B_ENST00000409642.3_Missense_Mutation_p.H172D|LYPD6B_ENST00000280115.7_Missense_Mutation_p.H172D|LYPD6B_ENST00000498249.1_3'UTR			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	148	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCCACCAATCACACTAATGC	0.468																																																	0													156.0	155.0	155.0					2																	150071114		2037	4179	6216	SO:0001583	missense	130576				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.442C>G	2.37:g.150071114C>G	ENSP00000386650:p.His148Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	NULL	p.H172D	ENST00000409029.1	37	c.514		2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407988	0.42715	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.68	4.77	0.60923	Ly-6 antigen / uPA receptor -like (1);	0.060363	0.64402	D	0.000004	T	0.13372	0.0324	L	0.38531	1.155	0.45690	D	0.998601	B;P	0.38078	0.418;0.617	B;B	0.33960	0.173;0.173	T	0.06215	-1.0839	9	.	.	.	-34.811	13.8239	0.63340	0.1532:0.8468:0.0:0.0	.	148;172	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	D	172;148;148;172	ENSP00000387077:H172D;ENSP00000386479:H148D;ENSP00000386650:H148D;ENSP00000280115:H172D	.	H	+	1	0	LYPD6B	149779360	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.611000	0.46334	2.691000	0.91804	0.655000	0.94253	CAC	LYPD6B	-	NULL		0.468	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	LYPD6B	HGNC	protein_coding	OTTHUMT00000332299.2	C	NM_177964		150071114	+1	no_errors	ENST00000280115	ensembl	human	known	70_37	missense	SNP	1.000	G
MEF2A	4205	genome.wustl.edu	37	15	100256544	100256544	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:100256544C>T	ENST00000354410.5	+	0	5697				MEF2A_ENST00000338042.6_3'UTR|DKFZP779J2370_ENST00000378904.2_3'UTR|MEF2A_ENST00000453228.2_3'UTR|LYSMD4_ENST00000604213.1_5'UTR|MEF2A_ENST00000557942.1_3'UTR|MEF2A_ENST00000449277.2_3'UTR	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A						apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|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)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAGTTAATCTCAATTTTTCCC	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	145748				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.*3568C>T	15.37:g.100256544C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	RNA	SNP	-	NULL	ENST00000354410.5	37	NULL	CCDS45362.1	15																																																																																			LYSMD4	-	-		0.333	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000415980.1	C			100256544	-1	no_errors	ENST00000496108	ensembl	human	known	70_37	rna	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235850285	235850285	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:235850285G>A	ENST00000389794.3	-	48	10938	c.10764C>T	c.(10762-10764)gtC>gtT	p.V3588V	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.V3588V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3588					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGCTGTGATGACACCGCATT	0.443																																																	0													151.0	139.0	143.0					1																	235850285		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10764C>T	1.37:g.235850285G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V3588	ENST00000389794.3	37	c.10764	CCDS31062.1	1																																																																																			LYST	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.443	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235850285	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	silent	SNP	1.000	A
MAATS1	89876	genome.wustl.edu	37	3	119452308	119452308	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:119452308G>A	ENST00000273390.5	+	10	1376	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											CTGGTTTTCTGAAGAGGGCAG	0.403																																																	0													125.0	122.0	123.0					3																	119452308		2203	4300	6503	SO:0001819	synonymous_variant	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1299G>A	3.37:g.119452308G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	superfamily_S-AdoMet_deCO2ase_core	p.L433	ENST00000273390.5	37	c.1299	CCDS2994.1	3																																																																																			MAATS1	-	NULL		0.403	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	G	NM_033364		119452308	+1	no_errors	ENST00000273390	ensembl	human	known	70_37	silent	SNP	0.992	A
MACF1	23499	genome.wustl.edu	37	1	39815296	39815296	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:39815296G>C	ENST00000372915.3	+	41	11064	c.10977G>C	c.(10975-10977)ttG>ttC	p.L3659F	MACF1_ENST00000564288.1_Missense_Mutation_p.L3654F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1592F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.L1592F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3691F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1592F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2094F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1592F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3659					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTGACTTGAAGGTCAGTG	0.502																																																	0													87.0	91.0	89.0					1																	39815296		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10977G>C	1.37:g.39815296G>C	ENSP00000362006:p.Leu3659Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L1592F	ENST00000372915.3	37	c.4776		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.685281|1.685281	0.29872|0.29872	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	.|T;T;T;T;T;T;T	.|0.63096	.|1.25;-0.02;1.25;1.25;1.25;1.25;1.06	5.77|5.77	0.513|0.513	0.17000|0.17000	.|.	.|0.317472	.|0.22619	.|N	.|0.057721	T|T	0.47691|0.47691	0.1459|0.1459	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.16166	.|0.005;0.016;0.011;0.002	.|B;B;B;B	.|0.22880	.|0.009;0.042;0.02;0.008	T|T	0.29852|0.29852	-0.9998|-0.9998	5|10	.|0.40728	.|T	.|0.16	.|.	2.1116|2.1116	0.03704|0.03704	0.2618:0.2037:0.4276:0.1069|0.2618:0.2037:0.4276:0.1069	.|.	.|3659;1592;1592;1557	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	Q|F	726|1592;3659;1592;1592;1592;1741;2094	.|ENSP00000439537:L1592F;ENSP00000362006:L3659F;ENSP00000354573:L1592F;ENSP00000313438:L1592F;ENSP00000444364:L1592F;ENSP00000437059:L1741F;ENSP00000289893:L2094F	.|ENSP00000289893:L2094F	E|L	+|+	1|3	0|2	MACF1|MACF1	39587883|39587883	0.761000|0.761000	0.28439|0.28439	0.998000|0.998000	0.56505|0.56505	0.956000|0.956000	0.61745|0.61745	-0.467000|-0.467000	0.06664|0.06664	0.094000|0.094000	0.17404|0.17404	-0.225000|-0.225000	0.12378|0.12378	GAA|TTG	MACF1	-	smart_Spectrin/alpha-actinin		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39815296	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	0.971	C
MADD	8567	genome.wustl.edu	37	11	47345231	47345231	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47345231G>A	ENST00000311027.5	+	31	4552	c.4387G>A	c.(4387-4389)Gac>Aac	p.D1463N	MADD_ENST00000395344.3_Missense_Mutation_p.D1357N|MADD_ENST00000402799.1_Missense_Mutation_p.D1361N|MADD_ENST00000406482.1_Missense_Mutation_p.D1361N|MADD_ENST00000342922.4_Missense_Mutation_p.D1404N|MADD_ENST00000405573.2_Missense_Mutation_p.D273N|MADD_ENST00000402192.2_Missense_Mutation_p.D1403N|MADD_ENST00000407859.3_Missense_Mutation_p.D1381N|MADD_ENST00000395336.3_Missense_Mutation_p.D1463N|MADD_ENST00000349238.3_Missense_Mutation_p.D1424N	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGTGTGCGATGACTGTGTGGT	0.532																																																	0													202.0	147.0	166.0					11																	47345231		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4387G>A	11.37:g.47345231G>A	ENSP00000310933:p.Asp1463Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		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.D1463N	ENST00000311027.5	37	c.4387	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.531513	0.96446	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.58358	2.75;2.62;2.65;2.73;2.78;2.61;2.62;2.8;2.75;0.34	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;1.0;0.998;0.999;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999;0.999;0.999;0.998;0.998;0.996;0.998	T	0.74466	-0.3656	10	0.87932	D	0	-20.5773	19.903	0.96995	0.0:0.0:1.0:0.0	.	273;1357;1357;1463;1361;1361;1361;1424;1381;1463;1404	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	N	1404;1361;1361;1361;1424;1463;1381;1357;1463;1403;273	ENSP00000343902:D1404N;ENSP00000385585:D1361N;ENSP00000384435:D1361N;ENSP00000304505:D1424N;ENSP00000310933:D1463N;ENSP00000384204:D1381N;ENSP00000378753:D1357N;ENSP00000378745:D1463N;ENSP00000384287:D1403N;ENSP00000384483:D273N	ENSP00000310933:D1463N	D	+	1	0	MADD	47301807	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.947000	0.93000	2.705000	0.92388	0.549000	0.68633	GAC	MADD	-	NULL		0.532	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47345231	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	A
MADD	8567	genome.wustl.edu	37	11	47346268	47346268	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47346268G>A	ENST00000405573.2	+	13	1505	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	MADD_ENST00000311027.5_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000395336.3_Intron|MADD_ENST00000349238.3_Intron					MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGACCCAGGAAAGAAACCC	0.632																																																	0																																										SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000405573.2:c.1292G>A	11.37:g.47346268G>A	ENSP00000384483:p.Gly431Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G431E	ENST00000405573.2	37	c.1292		11	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448855	0.26074	.	.	ENSG00000110514	ENST00000405573	T	0.50813	0.73	4.35	3.39	0.38822	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.20184	0.028	T	0.19289	-1.0310	7	.	.	.	.	7.5758	0.27935	0.1352:0.0:0.8648:0.0	.	431	F8W8U2	.	E	431	ENSP00000384483:G431E	.	G	+	2	0	MADD	47302844	0.065000	0.20965	0.009000	0.14445	0.388000	0.30384	2.651000	0.46674	1.064000	0.40671	0.484000	0.47621	GGA	MADD	-	NULL		0.632	MADD-018	NOVEL	basic	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000391722.1	G			47346268	+1	no_errors	ENST00000405573	ensembl	human	novel	70_37	missense	SNP	0.007	A
MAGOHB	55110	genome.wustl.edu	37	12	10762468	10762468	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:10762468C>T	ENST00000320756.2	-	3	316	c.226G>A	c.(226-228)Gat>Aat	p.D76N	MAGOHB_ENST00000539554.1_Missense_Mutation_p.D30N|MAGOHB_ENST00000381881.2_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	76					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CACAAAGCATCATCTTCTTTT	0.313																																																	0													118.0	120.0	119.0					12																	10762468		2203	4300	6503	SO:0001583	missense	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.226G>A	12.37:g.10762468C>T	ENSP00000319240:p.Asp76Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.D76N	ENST00000320756.2	37	c.226	CCDS8628.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.057916	0.93846	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	D	0.86768	0.6012	H	0.96460	3.825	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.89657	0.3874	9	0.54805	T	0.06	.	15.7455	0.77936	0.0:1.0:0.0:0.0	.	76	Q96A72	MGN2_HUMAN	N	30;76	.	ENSP00000319240:D76N	D	-	1	0	MAGOHB	10653735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.836000	0.75349	2.844000	0.97970	0.591000	0.81541	GAT	MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi		0.313	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	C	NM_018048		10762468	-1	no_errors	ENST00000320756	ensembl	human	known	70_37	missense	SNP	1.000	T
MALAT1	378938	genome.wustl.edu	37	11	65266716	65266716	+	lincRNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65266716G>A	ENST00000534336.1	+	0	1484				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAGAAAATATGAAGACTTAGA	0.284																																																	0													22.0	23.0	23.0					11																	65266716		873	1985	2858			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266716G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.284	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65266716	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.001	A
EDF1	8721	genome.wustl.edu	37	9	139754394	139754394	+	IGR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139754394C>G	ENST00000224073.1	-	0	640				MAMDC4_ENST00000445819.1_Missense_Mutation_p.L1163V|MAMDC4_ENST00000317446.2_Missense_Mutation_p.L1084V|MAMDC4_ENST00000485732.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTCCTATTGCTCATGCTCCT	0.647																																																	0													67.0	65.0	66.0					9																	139754394		2199	4300	6499	SO:0001628	intergenic_variant	158056			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754394C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T5T2|Q9UIM1	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom	p.L1163V	ENST00000224073.1	37	c.3487	CCDS7011.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.23|10.23	1.292159|1.292159	0.23564|0.23564	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.01933	.|4.61;4.55	4.68|4.68	0.405|0.405	0.16361|0.16361	.|.	.|1.258610	.|0.05826	.|N	.|0.616706	T|T	0.02047|0.02047	0.0064|0.0064	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B;B	.|0.34015	.|0.435;0.112	.|B;B	.|0.27887	.|0.084;0.032	T|T	0.47368|0.47368	-0.9123|-0.9123	5|10	.|0.15066	.|T	.|0.55	-18.5777|-18.5777	2.6399|2.6399	0.04968|0.04968	0.1459:0.5237:0.1433:0.187|0.1459:0.5237:0.1433:0.187	.|.	.|1163;1084	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	G|V	1148|1084;1163	.|ENSP00000319388:L1084V;ENSP00000411339:L1163V	.|ENSP00000319388:L1084V	A|L	+|+	2|1	0|0	MAMDC4|MAMDC4	138874215|138874215	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.293000|0.293000	0.27360|0.27360	-0.278000|-0.278000	0.08490|0.08490	0.507000|0.507000	0.28148|0.28148	-0.258000|-0.258000	0.10820|0.10820	GCT|CTC	MAMDC4	-	NULL		0.647	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000055143.1	C			139754394	+1	no_errors	ENST00000445819	ensembl	human	known	70_37	missense	SNP	0.000	G
MAML2	84441	genome.wustl.edu	37	11	95825810	95825810	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:95825810G>C	ENST00000524717.1	-	2	2669	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	462					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGGCAAGGCTGACCAGTTGGT	0.567			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													61.0	65.0	63.0					11																	95825810		2184	4288	6472	SO:0001587	stop_gained	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1385C>G	11.37:g.95825810G>C	ENSP00000434552:p.Ser462*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Nonsense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S462*	ENST00000524717.1	37	c.1385	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	48	14.852515	0.99813	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	.	.	.	5.89	5.89	0.94794	.	0.743139	0.12532	N	0.460685	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-1.6769	20.2469	0.98398	0.0:0.0:1.0:0.0	.	.	.	.	X	462	.	ENSP00000412394:S462X	S	-	2	0	MAML2	95465458	1.000000	0.71417	0.355000	0.25773	0.750000	0.42670	8.825000	0.92029	2.781000	0.95711	0.555000	0.69702	TCA	MAML2	-	NULL		0.567	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95825810	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	nonsense	SNP	0.477	C
MAMLD1	10046	genome.wustl.edu	37	X	149638143	149638143	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:149638143C>G	ENST00000370401.2	+	4	608	c.298C>G	c.(298-300)Cat>Gat	p.H100D	MAMLD1_ENST00000432680.2_Missense_Mutation_p.H75D|MAMLD1_ENST00000426613.2_Missense_Mutation_p.H75D|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H100D			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	100					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGTGCTCATCCTAGTAC	0.517																																																	0													120.0	114.0	116.0					X																	149638143		2203	4300	6503	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.298C>G	X.37:g.149638143C>G	ENSP00000359428:p.His100Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.H75D	ENST00000370401.2	37	c.223	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079715	0.20309	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.64438	0.31;-0.1;0.31;0.3	5.36	4.41	0.53225	.	0.145249	0.46758	D	0.000277	T	0.71829	0.3386	L	0.56769	1.78	0.33379	D	0.57457	P;D;D;D	0.67145	0.774;0.996;0.99;0.996	B;D;P;D	0.77557	0.365;0.99;0.808;0.99	T	0.74654	-0.3593	10	0.23302	T	0.38	-25.6676	11.6157	0.51088	0.3276:0.6724:0.0:0.0	.	62;75;75;100	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	D	62;100;75;100;100;75	ENSP00000359428:H100D;ENSP00000414517:H75D;ENSP00000262858:H100D;ENSP00000397438:H75D	ENSP00000262858:H100D	H	+	1	0	MAMLD1	149388801	0.955000	0.32602	0.163000	0.22734	0.010000	0.07245	1.583000	0.36579	2.237000	0.73441	0.600000	0.82982	CAT	MAMLD1	-	NULL		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149638143	+1	no_errors	ENST00000432680	ensembl	human	known	70_37	missense	SNP	0.460	G
MAP2	4133	genome.wustl.edu	37	2	210594923	210594923	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:210594923G>A	ENST00000360351.4	+	15	5792	c.5286G>A	c.(5284-5286)ttG>ttA	p.L1762L	MAP2_ENST00000447185.1_Silent_p.L1758L|MAP2_ENST00000361559.4_Silent_p.L406L|MAP2_ENST00000392194.1_Silent_p.L406L|MAP2_ENST00000199940.6_Silent_p.L494L	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1762					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCCAAAAGTTGAACTTCAGAG	0.517																																					Pancreas(27;423 979 28787 29963)												0													76.0	70.0	72.0					2																	210594923		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5286G>A	2.37:g.210594923G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.L1762	ENST00000360351.4	37	c.5286	CCDS2384.1	2																																																																																			MAP2	-	NULL		0.517	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594923	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56177814	56177814	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:56177814G>A	ENST00000399503.3	+	14	2787	c.2787G>A	c.(2785-2787)gaG>gaA	p.E929E		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	929					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACATTTCTGAGAGACTGGCCA	0.443																																																	0													71.0	67.0	69.0					5																	56177814		1894	4127	6021	SO:0001819	synonymous_variant	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2787G>A	5.37:g.56177814G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E929	ENST00000399503.3	37	c.2787	CCDS43318.1	5																																																																																			MAP3K1	-	NULL		0.443	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	G	XM_042066		56177814	+1	no_errors	ENST00000399503	ensembl	human	novel	70_37	silent	SNP	0.992	A
MAP3K5	4217	genome.wustl.edu	37	6	136932511	136932511	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:136932511C>G	ENST00000359015.4	-	18	2790	c.2430G>C	c.(2428-2430)ttG>ttC	p.L810F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.L57F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	810	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGGTATTAATCAACACATTGT	0.368																																																	0													141.0	133.0	135.0					6																	136932511		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2430G>C	6.37:g.136932511C>G	ENSP00000351908:p.Leu810Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L810F	ENST00000359015.4	37	c.2430	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445673	0.63178	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.57107	0.42;0.42	5.17	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066729	0.56097	D	0.000030	T	0.56834	0.2012	M	0.64997	1.995	0.54753	D	0.999988	D;D	0.76494	0.992;0.999	P;D	0.81914	0.901;0.995	T	0.61946	-0.6958	10	0.87932	D	0	.	6.6416	0.22913	0.3088:0.602:0.0:0.0892	.	890;810	Q59GL6;Q99683	.;M3K5_HUMAN	F	810;57;890	ENSP00000351908:L810F;ENSP00000348104:L57F	ENSP00000348104:L57F	L	-	3	2	MAP3K5	136974204	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.539000	0.36104	2.555000	0.86185	0.555000	0.69702	TTG	MAP3K5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.368	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			136932511	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP3K5	4217	genome.wustl.edu	37	6	137026254	137026254	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:137026254C>G	ENST00000359015.4	-	3	966	c.606G>C	c.(604-606)aaG>aaC	p.K202N		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	202					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCACAGTATTCTTCTGGCAAA	0.239																																																	0													21.0	24.0	23.0					6																	137026254		2129	4221	6350	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.606G>C	6.37:g.137026254C>G	ENSP00000351908:p.Lys202Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K202N	ENST00000359015.4	37	c.606	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382677	0.61845	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72394	-0.65	4.73	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.72118	2.19	0.80722	D	1	D;D;P	0.89917	1.0;0.993;0.954	D;D;P	0.81914	0.995;0.911;0.745	T	0.75830	-0.3179	10	0.54805	T	0.06	.	9.9762	0.41786	0.0:0.8325:0.0:0.1675	.	282;47;202	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	N	202;282	ENSP00000351908:K202N	ENSP00000351908:K202N	K	-	3	2	MAP3K5	137067947	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.559000	0.45888	0.728000	0.32382	0.467000	0.42956	AAG	MAP3K5	-	NULL		0.239	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			137026254	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP4K2	5871	genome.wustl.edu	37	11	64557881	64557881	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64557881G>A	ENST00000294066.2	-	28	2237	c.2146C>T	c.(2146-2148)Cta>Tta	p.L716L	MAP4K2_ENST00000377350.3_Silent_p.L708L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	716	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AAGCTGACTAGGATTGTGTCC	0.632																																																	0													105.0	94.0	98.0					11																	64557881		2201	4297	6498	SO:0001819	synonymous_variant	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2146C>T	11.37:g.64557881G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VU3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L716	ENST00000294066.2	37	c.2146	CCDS8082.1	11																																																																																			MAP4K2	-	pfam_Citron,smart_Citron		0.632	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	G	NM_004579		64557881	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	silent	SNP	0.665	A
MAP7D2	256714	genome.wustl.edu	37	X	20029053	20029053	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:20029053G>C	ENST00000379651.3	-	15	2085	c.2067C>G	c.(2065-2067)ctC>ctG	p.L689L	MAP7D2_ENST00000543767.1_Silent_p.L574L|MAP7D2_ENST00000443379.3_Silent_p.L644L|MAP7D2_ENST00000452324.3_Silent_p.L637L|MAP7D2_ENST00000379643.5_Silent_p.L730L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	689					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGAAATCTAAGAGATCTTGAA	0.458																																																	0													94.0	87.0	89.0					X																	20029053		2203	4300	6503	SO:0001819	synonymous_variant	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2067C>G	X.37:g.20029053G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	pfam_E-MAP-115	p.L730	ENST00000379651.3	37	c.2190	CCDS14195.1	X																																																																																			MAP7D2	-	NULL		0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	G	NM_152780		20029053	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	silent	SNP	0.995	C
MAP7D2	256714	genome.wustl.edu	37	X	20043927	20043927	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:20043927C>T	ENST00000379651.3	-	8	1046	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R228K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R298K|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R291K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R384K|MAP7D2_ENST00000466145.1_5'UTR	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	343					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGTACCTTCCCTTTCCTTGTT	0.572																																																	0													235.0	192.0	206.0					X																	20043927		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1028G>A	X.37:g.20043927C>T	ENSP00000368972:p.Arg343Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.R384K	ENST00000379651.3	37	c.1151	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	6.557	0.471113	0.12461	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.34275	1.37;1.37;3.64;1.37;1.37	5.31	0.173	0.15036	.	0.296696	0.28493	N	0.015148	T	0.14527	0.0351	N	0.16098	0.37	0.09310	N	0.999998	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.003;0.001;0.003	T	0.32719	-0.9896	10	0.05351	T	0.99	-8.4616	7.0703	0.25175	0.0:0.4526:0.0:0.5474	.	298;291;384;343;228	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	K	343;384;228;298;291	ENSP00000368972:R343K;ENSP00000368964:R384K;ENSP00000440691:R228K;ENSP00000388239:R298K;ENSP00000413301:R291K	ENSP00000368964:R384K	R	-	2	0	MAP7D2	19953848	0.357000	0.24938	0.429000	0.26710	0.410000	0.31052	-0.037000	0.12164	0.056000	0.16144	0.600000	0.82982	AGG	MAP7D2	-	NULL		0.572	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20043927	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	0.600	T
MAPK8	5599	genome.wustl.edu	37	10	49639240	49639240	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:49639240G>A	ENST00000374189.1	+	11	1246	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	MAPK8_ENST00000360332.3_Silent_p.L355L|MAPK8_ENST00000395611.3_Silent_p.L279L|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000374182.3_Silent_p.L355L			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	355					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTACAGAATTGATATATAAGG	0.363																																																	0													60.0	63.0	62.0					10																	49639240		2203	4300	6503	SO:0001819	synonymous_variant	5599			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.1065G>A	10.37:g.49639240G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.L355	ENST00000374189.1	37	c.1065	CCDS7224.1	10																																																																																			MAPK8	-	superfamily_Kinase-like_dom		0.363	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	G			49639240	+1	no_errors	ENST00000360332	ensembl	human	known	70_37	silent	SNP	1.000	A
MAPK9	5601	genome.wustl.edu	37	5	179668150	179668150	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:179668150G>C	ENST00000452135.2	-	9	1175	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	MAPK9_ENST00000347470.4_Missense_Mutation_p.Q208E|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q293E|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.Q293E|MAPK9_ENST00000455781.1_Missense_Mutation_p.Q293E|MAPK9_ENST00000524170.1_5'Flank			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTGGCTTGACTTGCTAGG	0.353																																																	0													151.0	155.0	154.0					5																	179668150		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.877C>G	5.37:g.179668150G>C	ENSP00000394560:p.Gln293Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.Q293E	ENST00000452135.2	37	c.877	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273897	0.40194	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	T;T;T;T;T	0.81247	0.08;0.08;0.08;0.08;-1.47	5.43	5.43	0.79202	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	0.58977	0.2160	N	0.03071	-0.42	0.80722	D	1	B;B;B;P	0.35542	0.026;0.008;0.014;0.508	B;B;B;B	0.31442	0.038;0.022;0.022;0.13	T	0.63453	-0.6634	10	0.09590	T	0.72	-26.0052	19.254	0.93938	0.0:0.0:1.0:0.0	.	293;293;293;293	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	E	293;293;293;293;208	ENSP00000394560:Q293E;ENSP00000377028:Q293E;ENSP00000389338:Q293E;ENSP00000345524:Q293E;ENSP00000321410:Q208E	ENSP00000345524:Q293E	Q	-	1	0	MAPK9	179600756	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	9.670000	0.98625	2.541000	0.85698	0.557000	0.71058	CAA	MAPK9	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK		0.353	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179668150	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	C
MAPKBP1	23005	genome.wustl.edu	37	15	42107876	42107876	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:42107876G>C	ENST00000456763.2	+	13	1586	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E341Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E297Q|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E458Q|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E458Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	464										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCTGGACACAGAGCTGCCTGG	0.557																																																	0													65.0	54.0	58.0					15																	42107876		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1390G>C	15.37:g.42107876G>C	ENSP00000393099:p.Glu464Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E464Q	ENST00000456763.2	37	c.1390	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	g	20.5	4.006073	0.74932	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41758	1.06;1.19;0.99;1.12;1.23	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.137501	0.64402	D	0.000003	T	0.46210	0.1381	N	0.14661	0.345	0.34090	D	0.660596	D;D;P;B	0.67145	0.974;0.996;0.628;0.404	P;D;B;B	0.63703	0.796;0.917;0.432;0.249	T	0.48875	-0.8996	10	0.19147	T	0.46	-22.6483	19.8235	0.96607	0.0:0.0:1.0:0.0	.	297;458;464;458	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	Q	458;341;297;464;458	ENSP00000397570:E458Q;ENSP00000221214:E341Q;ENSP00000260357:E297Q;ENSP00000393099:E464Q;ENSP00000426154:E458Q	ENSP00000221214:E341Q	E	+	1	0	MAPKBP1	39895168	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	9.684000	0.98659	2.696000	0.92011	0.456000	0.33151	GAG	MAPKBP1	-	superfamily_WD40_repeat_dom		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	G	NM_014994		42107876	+1	no_errors	ENST00000456763	ensembl	human	known	70_37	missense	SNP	0.976	C
MARCH10	162333	genome.wustl.edu	37	17	60813357	60813357	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:60813357G>A	ENST00000311269.5	-	6	2146	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	MARCH10_ENST00000456609.2_Silent_p.F624F|MARCH10_ENST00000583600.1_Silent_p.F662F|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Silent_p.F623F|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	624					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F624F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTCATCTGTGAAACCAGAGG	0.383																																																	1	Substitution - coding silent(1)	lung(1)											86.0	89.0	88.0					17																	60813357		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1872C>T	17.37:g.60813357G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.F624	ENST00000311269.5	37	c.1872	CCDS11635.1	17																																																																																			MARCH10	-	NULL		0.383	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	G	NM_152598		60813357	-1	no_errors	ENST00000311269	ensembl	human	known	70_37	silent	SNP	0.000	A
MARK3	4140	genome.wustl.edu	37	14	103969412	103969412	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:103969412G>A	ENST00000429436.2	+	18	2620	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	MARK3_ENST00000553942.1_Missense_Mutation_p.D695N|MARK3_ENST00000303622.9_Missense_Mutation_p.D680N|MARK3_ENST00000335102.5_Missense_Mutation_p.D727N|MARK3_ENST00000416682.2_Missense_Mutation_p.D703N|MARK3_ENST00000216288.7_Missense_Mutation_p.D664N|MARK3_ENST00000440884.3_Missense_Mutation_p.D610N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	704	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CGTCCACGGAGATGGGCACGC	0.572																																																	0													65.0	67.0	66.0					14																	103969412		2046	4216	6262	SO:0001583	missense	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2110G>A	14.37:g.103969412G>A	ENSP00000411397:p.Asp704Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.D704N	ENST00000429436.2	37	c.2110	CCDS45165.1	14	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033725	0.54896	.	.	ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	6.06	5.17	0.71159	Kinase-associated KA1 (3);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.58810	1.83	0.80722	D	1	B;D;B;P;B;B;B;B;B	0.64830	0.049;0.994;0.098;0.491;0.035;0.045;0.084;0.037;0.049	B;D;B;B;B;B;B;B;B	0.66716	0.083;0.946;0.221;0.114;0.029;0.11;0.063;0.169;0.049	T	0.73241	-0.4045	10	0.52906	T	0.07	.	15.3261	0.74164	0.0666:0.0:0.9334:0.0	.	711;282;703;413;664;704;610;695;680	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;.;.;.;MARK3_HUMAN;.;.;.	N	727;396;610;703;704;680;664;695;282	ENSP00000335347:D727N;ENSP00000402104:D610N;ENSP00000408092:D703N;ENSP00000411397:D704N;ENSP00000303698:D680N;ENSP00000216288:D664N;ENSP00000450772:D695N;ENSP00000451623:D282N	ENSP00000216288:D695N	D	+	1	0	MARK3	103039165	1.000000	0.71417	0.065000	0.19835	0.010000	0.07245	9.807000	0.99171	1.584000	0.49913	0.655000	0.94253	GAT	MARK3	-	superfamily_Kinase-assoc_KA1		0.572	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	G	NM_001128918		103969412	+1	no_errors	ENST00000429436	ensembl	human	known	70_37	missense	SNP	0.998	A
MARS	4141	genome.wustl.edu	37	12	57881885	57881885	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57881885C>G	ENST00000262027.5	+	1	146	c.12C>G	c.(10-12)ttC>ttG	p.F4L	ARHGAP9_ENST00000550288.1_Intron|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	4					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGAGACTGTTCGTGAGTGATG	0.657																																																	0													120.0	120.0	120.0					12																	57881885		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.12C>G	12.37:g.57881885C>G	ENSP00000262027:p.Phe4Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.F4L	ENST00000262027.5	37	c.12	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974908	0.53720	.	.	ENSG00000166986	ENST00000262027	T	0.75821	-0.97	4.29	0.309	0.15820	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	N	0.25647	0.755	0.80722	D	1	D;B	0.58268	0.982;0.15	D;B	0.66351	0.943;0.018	T	0.63079	-0.6717	10	0.18710	T	0.47	-13.7397	8.3455	0.32270	0.0:0.6505:0.0:0.3495	.	4;4	B4E0E9;P56192	.;SYMC_HUMAN	L	4	ENSP00000262027:F4L	ENSP00000262027:F4L	F	+	3	2	MARS	56168152	1.000000	0.71417	0.997000	0.53966	0.125000	0.20455	0.427000	0.21379	-0.050000	0.13356	-0.350000	0.07774	TTC	MARS	-	superfamily_Thioredoxin-like_fold		0.657	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57881885	+1	no_errors	ENST00000262027	ensembl	human	known	70_37	missense	SNP	1.000	G
MASP1	5648	genome.wustl.edu	37	3	186947582	186947582	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186947582C>T	ENST00000337774.5	-	11	1796	c.1407G>A	c.(1405-1407)ctG>ctA	p.L469L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	469	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCTGCCCATTCAGGTGTGACA	0.592																																																	0													70.0	66.0	68.0					3																	186947582		2203	4300	6503	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1407G>A	3.37:g.186947582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L469	ENST00000337774.5	37	c.1407	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.592	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	C	NM_001879		186947582	-1	no_errors	ENST00000337774	ensembl	human	known	70_37	silent	SNP	0.000	T
MASP1	5648	genome.wustl.edu	37	3	186954180	186954180	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186954180G>C	ENST00000337774.5	-	10	1693				MASP1_ENST00000296280.6_Silent_p.L493L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Silent_p.L380L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGCTGCTGTGAGGATCCAGG	0.587																																																	0													93.0	89.0	90.0					3																	186954180		2203	4300	6503	SO:0001627	intron_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5088C>G	3.37:g.186954180G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L493	ENST00000337774.5	37	c.1479	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.587	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	G	NM_001879		186954180	-1	no_errors	ENST00000296280	ensembl	human	known	70_37	silent	SNP	1.000	C
MAST2	23139	genome.wustl.edu	37	1	46425105	46425105	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46425105C>T	ENST00000361297.2	+	5	831	c.548C>T	c.(547-549)tCa>tTa	p.S183L	MAST2_ENST00000372009.2_Missense_Mutation_p.S183L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCTAGCACATCACCTACACTA	0.478																																																	0													78.0	78.0	78.0					1																	46425105		2033	4200	6233	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.548C>T	1.37:g.46425105C>T	ENSP00000354671:p.Ser183Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S183L	ENST00000361297.2	37	c.548	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.266332	0.95399	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625;ENST00000372008	T;T;T	0.74632	-0.81;-0.86;-0.45	5.1	5.1	0.69264	.	0.146359	0.46442	D	0.000288	D	0.84297	0.5441	L	0.58510	1.815	0.45867	D	0.998721	D;D;D;D	0.89917	0.981;0.967;0.999;1.0	D;P;D;D	0.87578	0.943;0.879;0.991;0.998	D	0.85517	0.1201	10	0.66056	D	0.02	-11.6519	17.6417	0.88138	0.0:1.0:0.0:0.0	.	183;40;183;183	Q6P0Q8-2;E9PBM6;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	L	183;183;40;68	ENSP00000354671:S183L;ENSP00000361079:S183L;ENSP00000361078:S68L	ENSP00000354671:S183L	S	+	2	0	MAST2	46197692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.660000	0.74417	2.523000	0.85059	0.563000	0.77884	TCA	MAST2	-	NULL		0.478	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	C	NM_015112		46425105	+1	no_errors	ENST00000361297	ensembl	human	known	70_37	missense	SNP	1.000	T
MAST4	375449	genome.wustl.edu	37	5	66426168	66426168	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:66426168G>A	ENST00000403625.2	+	15	2171	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	MAST4_ENST00000405643.1_Missense_Mutation_p.E447K|MAST4_ENST00000403666.1_Missense_Mutation_p.E437K|MAST4_ENST00000404260.3_Missense_Mutation_p.E629K|MAST4_ENST00000261569.7_Missense_Mutation_p.E432K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACTTTTGCAGAAAACCCCTT	0.463																																																	0													121.0	126.0	124.0					5																	66426168		2168	4286	6454	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1876G>A	5.37:g.66426168G>A	ENSP00000385727:p.Glu626Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E629K	ENST00000403625.2	37	c.1885	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.637740	0.96693	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.12	5.12	0.69794	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	0.25005	0.0607	N	0.02539	-0.55	0.58432	D	0.999991	B;D;D;P	0.89917	0.382;1.0;1.0;0.753	P;D;D;P	0.91635	0.607;0.999;0.999;0.86	T	0.55244	-0.8171	10	0.87932	D	0	-23.0476	18.9218	0.92528	0.0:0.0:1.0:0.0	.	447;629;432;437	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	K	629;626;437;447;447;432;432	ENSP00000385048:E629K;ENSP00000385727:E626K;ENSP00000384313:E437K;ENSP00000384099:E447K;ENSP00000261569:E432K	ENSP00000261569:E432K	E	+	1	0	MAST4	66461924	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.869000	0.99810	2.525000	0.85131	0.650000	0.86243	GAA	MAST4	-	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		0.463	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66426168	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	A
MATN3	4148	genome.wustl.edu	37	2	20205884	20205884	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:20205884G>C	ENST00000407540.3	-	2	473	c.411C>G	c.(409-411)ctC>ctG	p.L137L	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Silent_p.L137L	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	137	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGGCCTGGAGTTGGAACT	0.557																																																	0													67.0	73.0	71.0					2																	20205884		2088	4221	6309	SO:0001819	synonymous_variant	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.411C>G	2.37:g.20205884G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2CPU0|Q4ZG02	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.L137	ENST00000407540.3	37	c.411	CCDS46226.1	2																																																																																			MATN3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	HGNC	protein_coding	OTTHUMT00000323925.1	G	NM_002381		20205884	-1	no_errors	ENST00000407540	ensembl	human	known	70_37	silent	SNP	0.945	C
MAVS	57506	genome.wustl.edu	37	20	3842980	3842980	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:3842980C>G	ENST00000428216.2	+	5	673	c.545C>G	c.(544-546)tCt>tGt	p.S182C	MAVS_ENST00000416600.2_Missense_Mutation_p.S41C|MAVS_ENST00000358134.6_Silent_p.L124L	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	182					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTCCTCCTCTGACCTGGCA	0.577																																																	0													56.0	56.0	56.0					20																	3842980		2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.545C>G	20.37:g.3842980C>G	ENSP00000401980:p.Ser182Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	NULL	p.S182C	ENST00000428216.2	37	c.545	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584700	0.65992	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.41065	1.01;1.93	4.16	2.15	0.27550	.	0.235716	0.27715	N	0.018150	T	0.46964	0.1420	L	0.42245	1.32	0.18873	N	0.999984	D	0.59767	0.986	P	0.57720	0.826	T	0.30880	-0.9963	10	0.46703	T	0.11	-9.4808	10.482	0.44700	0.0:0.6156:0.3844:0.0	.	182	Q7Z434	MAVS_HUMAN	C	41;182	ENSP00000413749:S41C;ENSP00000401980:S182C	ENSP00000413749:S41C	S	+	2	0	MAVS	3790980	0.075000	0.21258	0.284000	0.24805	0.507000	0.33981	1.602000	0.36783	0.658000	0.30925	-0.175000	0.13238	TCT	MAVS	-	NULL		0.577	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	C	NM_020746		3842980	+1	no_errors	ENST00000428216	ensembl	human	known	70_37	missense	SNP	0.375	G
MAVS	57506	genome.wustl.edu	37	20	3846609	3846609	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:3846609G>C	ENST00000428216.2	+	7	1566	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	MAVS_ENST00000416600.2_Missense_Mutation_p.E339Q|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	480					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGCTCCTGGAGGGCAACCC	0.662																																																	0													37.0	42.0	40.0					20																	3846609		2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1438G>C	20.37:g.3846609G>C	ENSP00000401980:p.Glu480Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	NULL	p.E480Q	ENST00000428216.2	37	c.1438	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482322	0.44147	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.32753	1.44;2.46	4.41	3.44	0.39384	.	2.179600	0.01488	N	0.016969	T	0.39332	0.1074	L	0.46157	1.445	0.09310	N	1	P	0.49090	0.919	P	0.49276	0.605	T	0.20571	-1.0271	10	0.28530	T	0.3	0.0323	9.5026	0.39026	0.0:0.0:0.7803:0.2197	.	480	Q7Z434	MAVS_HUMAN	Q	339;480	ENSP00000413749:E339Q;ENSP00000401980:E480Q	ENSP00000413749:E339Q	E	+	1	0	MAVS	3794609	0.055000	0.20627	0.003000	0.11579	0.012000	0.07955	2.512000	0.45485	1.399000	0.46721	0.655000	0.94253	GAG	MAVS	-	NULL		0.662	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	G	NM_020746		3846609	+1	no_errors	ENST00000428216	ensembl	human	known	70_37	missense	SNP	0.003	C
MAX	4149	genome.wustl.edu	37	14	65543311	65543311	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:65543311G>T	ENST00000358664.4	-	5	496	c.366C>A	c.(364-366)ctC>ctA	p.L122L	MAX_ENST00000284165.6_3'UTR|MAX_ENST00000555419.1_Silent_p.L86L|MAX_ENST00000358402.4_Silent_p.L113L|MAX_ENST00000555932.1_Missense_Mutation_p.S36Y|MAX_ENST00000557277.1_Silent_p.L59L|MAX_ENST00000341653.2_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	122					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CGTTGGTGTAGAGGCTGTTGT	0.582																																																	0													205.0	197.0	199.0					14																	65543311		2203	4300	6503	SO:0001819	synonymous_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.366C>A	14.37:g.65543311G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	NULL	p.S36Y	ENST00000358664.4	37	c.107	CCDS9771.1	14	.	.	.	.	.	.	.	.	.	.	G	10.44	1.352039	0.24512	.	.	ENSG00000125952	ENST00000555932	.	.	.	5.93	4.99	0.66335	.	.	.	.	.	T	0.72859	0.3513	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.59487	0.858	T	0.72232	-0.4353	6	.	.	.	-1.4566	13.8607	0.63559	0.0:0.153:0.847:0.0	.	36	G3V2N4	.	Y	36	.	.	S	-	2	0	MAX	64613064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.710000	0.25748	2.814000	0.96858	0.591000	0.81541	TCT	MAX	-	NULL		0.582	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	G	NM_197957		65543311	-1	no_errors	ENST00000555932	ensembl	human	novel	70_37	missense	SNP	1.000	T
MAZ	4150	genome.wustl.edu	37	16	29819890	29819890	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:29819890G>A	ENST00000322945.6	+	4	1272		c.e4-1		AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_Splice_Site|MAZ_ENST00000545521.1_Splice_Site|MAZ_ENST00000568544.1_Splice_Site|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Splice_Site|MAZ_ENST00000566906.2_Intron|AC009133.15_ENST00000566537.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000569978.1_Splice_Site|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_Splice_Site	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCTCCTCAGAAATGTGAGG	0.592																																					Colon(72;875 1167 15364 30899 37091)												0													18.0	19.0	19.0					16																	29819890		1935	4122	6057	SO:0001630	splice_region_variant	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1108-1G>A	16.37:g.29819890G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Splice_Site	SNP	-	e4-1	ENST00000322945.6	37	c.1108-1	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439291	0.83885	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3742	0.83379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAZ	29727391	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.533000	0.85409	0.655000	0.94253	.	MAZ	-	-		0.592	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	G	NM_002383	Intron	29819890	+1	no_errors	ENST00000219782	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MBD2	8932	genome.wustl.edu	37	18	51729364	51729364	+	Intron	SNP	G	G	C	rs200544678		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:51729364G>C	ENST00000256429.3	-	2	931				MBD2_ENST00000398398.2_3'UTR|MBD2_ENST00000583046.1_Missense_Mutation_p.L271V	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2						ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		gagttcaccagatgaagggga	0.517																																																	0													146.0	148.0	148.0					18																	51729364		2099	4233	6332	SO:0001627	intron_variant	8932			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.702+2003C>G	18.37:g.51729364G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O95242|Q9UIS8	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L271V	ENST00000256429.3	37	c.811	CCDS11953.1	18	.	.	.	.	.	.	.	.	.	.	G	7.675	0.687878	0.14973	.	.	ENSG00000134046	ENST00000398398	.	.	.	4.23	2.43	0.29744	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	1	P	0.48162	0.906	B	0.43331	0.416	T	0.16247	-1.0409	7	0.87932	D	0	.	6.2956	0.21085	0.2216:0.0:0.7784:0.0	.	271	Q9UBB5-3	.	V	271	.	ENSP00000381435:L271V	L	-	1	2	MBD2	49983362	0.620000	0.27068	0.153000	0.22517	0.264000	0.26372	0.626000	0.24492	0.734000	0.32515	0.655000	0.94253	CTG	MBD2	-	NULL		0.517	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2	G	NM_003927		51729364	-1	no_errors	ENST00000583046	ensembl	human	known	70_37	missense	SNP	0.204	C
MBD6	114785	genome.wustl.edu	37	12	57920520	57920520	+	Missense_Mutation	SNP	G	G	C	rs201149080		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57920520G>C	ENST00000355673.3	+	7	1948	c.1592G>C	c.(1591-1593)gGa>gCa	p.G531A	MBD6_ENST00000431731.2_Missense_Mutation_p.G531A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	531	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GCACTGAGTGGAGCTGGCTTC	0.647																																																	0													60.0	53.0	55.0					12																	57920520		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1592G>C	12.37:g.57920520G>C	ENSP00000347896:p.Gly531Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.G531A	ENST00000355673.3	37	c.1592	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355203	0.24512	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.07	4.07	0.47477	.	0.290972	0.23971	N	0.042779	T	0.32882	0.0844	N	0.08118	0	0.33520	D	0.592317	D;P	0.71674	0.998;0.546	D;B	0.63957	0.92;0.115	T	0.32052	-0.9921	9	0.15066	T	0.55	-2.0048	5.9385	0.19179	0.1041:0.1974:0.6985:0.0	.	531;531	Q6P0P0;Q96DN6	.;MBD6_HUMAN	A	531	.	ENSP00000347896:G531A	G	+	2	0	MBD6	56206787	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.768000	0.38511	2.283000	0.76528	0.561000	0.74099	GGA	MBD6	-	NULL		0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57920520	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	1.000	C
MBTD1	54799	genome.wustl.edu	37	17	49279025	49279025	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:49279025G>A	ENST00000586178.1	-	12	1495	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	MBTD1_ENST00000376381.2_Silent_p.F384F|MBTD1_ENST00000415868.1_Silent_p.F384F	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	384					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCCTTCCTTGAACCATTCCC	0.299																																																	0													164.0	172.0	169.0					17																	49279025		2203	4297	6500	SO:0001819	synonymous_variant	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1152C>T	17.37:g.49279025G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZVU7|Q9NXU1	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.F384	ENST00000586178.1	37	c.1152	CCDS11581.2	17																																																																																			MBTD1	-	smart_Mbt,pfscan_Mbt		0.299	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	G			49279025	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	silent	SNP	1.000	A
MC1R	4157	genome.wustl.edu	37	16	89987153	89987153	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89987153C>G	ENST00000555147.1	+	0	2867				TUBB3_ENST00000554336.1_5'Flank|TUBB3_ENST00000555576.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|TUBB3_ENST00000553967.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555427.1_Missense_Mutation_p.S369C|TUBB3_ENST00000315491.7_5'Flank|TUBB3_ENST00000556922.1_Intron	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGGTGAAATCCCTGCCTCAG	0.612									Melanoma, Familial Clustering of																																								0																																										SO:0001624	3_prime_UTR_variant	4157	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.*533C>G	16.37:g.89987153C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.S369C	ENST00000555147.1	37	c.1106	CCDS56011.1	16	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575873	0.13623	.	.	ENSG00000258947	ENST00000555427	T	0.59224	0.28	2.92	-0.514	0.11958	.	.	.	.	.	T	0.40546	0.1121	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.29640	-1.0005	5	.	.	.	.	3.9048	0.09177	0.0:0.5501:0.2082:0.2417	.	.	.	.	C	369	ENSP00000451760:S369C	.	S	+	2	0	RP11-566K11.2	88514654	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.025000	0.12413	-0.205000	0.10219	0.563000	0.77884	TCC	MC1R	-	NULL		0.612	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1	C	NM_002386		89987153	+1	no_errors	ENST00000555427	ensembl	human	putative	70_37	missense	SNP	0.005	G
MCF2	4168	genome.wustl.edu	37	X	138711977	138711977	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:138711977C>T	ENST00000370576.4	-	4	524	c.315G>A	c.(313-315)gtG>gtA	p.V105V	MCF2_ENST00000370573.4_Silent_p.V105V|MCF2_ENST00000370578.4_Silent_p.V250V|MCF2_ENST00000338585.6_Silent_p.V105V|MCF2_ENST00000414978.1_Silent_p.V165V|MCF2_ENST00000520602.1_Silent_p.V165V|MCF2_ENST00000519895.1_Silent_p.V165V|MCF2_ENST00000536274.1_Silent_p.V66V	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	105					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCATTTCTTTCACTGTGAGGG	0.398																																																	0													158.0	155.0	156.0					X																	138711977		2203	4300	6503	SO:0001819	synonymous_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.315G>A	X.37:g.138711977C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V250	ENST00000370576.4	37	c.750	CCDS14667.1	X																																																																																			MCF2	-	superfamily_CRAL-TRIO_dom		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	C	NM_005369		138711977	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	silent	SNP	1.000	T
MCF2L	23263	genome.wustl.edu	37	13	113556531	113556531	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:113556531G>C	ENST00000375608.3	+	2	73	c.15G>C	c.(13-15)tgG>tgC	p.W5C	MCF2L_ENST00000442652.2_Missense_Mutation_p.W5C|MCF2L_ENST00000397036.1_Missense_Mutation_p.W5C			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	5					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)				TTGACTGTTGGAGATTTATCC	0.428											OREG0003857	type=REGULATORY REGION|Gene=BC035340|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													44.0	42.0	43.0					13																	113556531		876	1991	2867	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.15G>C	13.37:g.113556531G>C	ENSP00000364758:p.Trp5Cys	Somatic	1451	WXS	Illumina HiSeq	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.W5C	ENST00000375608.3	37	c.15		13	.	.	.	.	.	.	.	.	.	.	G	6.927	0.540744	0.13250	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000397036	T;T	0.56611	0.45;0.45	5.22	4.35	0.52113	.	0.470956	0.16054	N	0.231822	T	0.65688	0.2715	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67417	-0.5676	7	0.87932	D	0	.	12.7324	0.57204	0.0:0.1658:0.8342:0.0	.	.	.	.	C	5	ENSP00000364758:W5C;ENSP00000401422:W5C	ENSP00000364758:W5C	W	+	3	0	MCF2L	112604532	1.000000	0.71417	0.818000	0.32626	0.015000	0.08874	3.101000	0.50283	1.135000	0.42183	0.655000	0.94253	TGG	MCF2L	-	NULL		0.428	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113556531	+1	no_errors	ENST00000375608	ensembl	human	known	70_37	missense	SNP	0.999	C
MCF2L	23263	genome.wustl.edu	37	13	113571437	113571437	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:113571437G>A	ENST00000375608.3	+	2	227				MCF2L_ENST00000442652.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						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)				gcccctcggcgatctcagtcc	0.597																																																	0																																										SO:0001627	intron_variant	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.169+14752G>A	13.37:g.113571437G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	NULL	p.R60Q	ENST00000375608.3	37	c.179		13																																																																																			MCF2L	-	NULL		0.597	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113571437	+1	no_errors	ENST00000442625	ensembl	human	known	70_37	missense	SNP	0.001	A
MCHR2	84539	genome.wustl.edu	37	6	100403984	100403984	+	Missense_Mutation	SNP	C	C	T	rs142259467		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:100403984C>T	ENST00000281806.2	-	2	354	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MCHR2_ENST00000369212.2_Missense_Mutation_p.E14K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E14K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTAAAAGTTCGGCAGAGGTG	0.388																																																	2	Substitution - Missense(2)	large_intestine(1)|skin(1)											144.0	145.0	145.0					6																	100403984		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.40G>A	6.37:g.100403984C>T	ENSP00000281806:p.Glu14Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.E14K	ENST00000281806.2	37	c.40	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320291	0.41096	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.69306	-0.39;-0.39;-0.39	4.86	3.98	0.46160	.	0.459428	0.18287	N	0.145830	T	0.25306	0.0615	L	0.27053	0.805	0.23325	N	0.9979	B	0.27853	0.191	B	0.15052	0.012	T	0.10245	-1.0638	10	0.06099	T	0.92	.	11.704	0.51587	0.0:0.9058:0.0:0.0942	.	14	Q969V1	MCHR2_HUMAN	K	14	ENSP00000403490:E14K;ENSP00000281806:E14K;ENSP00000358214:E14K	ENSP00000281806:E14K	E	-	1	0	MCHR2	100510705	0.715000	0.27946	0.967000	0.41034	0.528000	0.34623	1.606000	0.36826	2.386000	0.81285	0.561000	0.74099	GAA	MCHR2	-	prints_MCH2_receptor		0.388	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	C	NM_032503		100403984	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	missense	SNP	0.912	T
MCMDC2	157777	genome.wustl.edu	37	8	67808472	67808472	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:67808472G>C	ENST00000422365.2	+	11	1518	c.1347G>C	c.(1345-1347)caG>caC	p.Q449H	MCMDC2_ENST00000313616.5_Missense_Mutation_p.Q449H|MCMDC2_ENST00000396592.3_Missense_Mutation_p.Q449H|MCMDC2_ENST00000541540.1_Missense_Mutation_p.Q386H	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	449					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTGATCAACAGATGACTTTTC	0.388																																																	0													222.0	199.0	207.0					8																	67808472		2203	4300	6503	SO:0001583	missense	157777			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1347G>C	8.37:g.67808472G>C	ENSP00000413632:p.Gln449His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.Q449H	ENST00000422365.2	37	c.1347	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816068	0.32145	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	6.03	1.13	0.20643	.	0.109084	0.64402	N	0.000005	T	0.23410	0.0566	L	0.50333	1.59	0.47778	D	0.999518	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.19391	0.025;0.011;0.011	T	0.04946	-1.0916	10	0.33141	T	0.24	-2.2176	6.0235	0.19642	0.67:0.127:0.2031:0.0	.	386;449;449	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	H	321;449;449;449;386	ENSP00000379837:Q449H;ENSP00000413632:Q449H;ENSP00000317234:Q449H;ENSP00000445629:Q386H	ENSP00000317234:Q449H	Q	+	3	2	C8orf45	67971026	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	1.406000	0.34646	0.170000	0.19704	-0.302000	0.09304	CAG	MCMDC2	-	smart_MCM_DNA-dep_ATPase		0.388	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	G	NM_173518		67808472	+1	no_errors	ENST00000422365	ensembl	human	known	70_37	missense	SNP	0.995	C
MDN1	23195	genome.wustl.edu	37	6	90422485	90422485	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:90422485C>A	ENST00000369393.3	-	48	7354	c.7239G>T	c.(7237-7239)gaG>gaT	p.E2413D	MDN1_ENST00000428876.1_Missense_Mutation_p.E2413D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2413					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)		AAACATGTTTCTCCAGTAAAG	0.443																																																	0													55.0	52.0	53.0					6																	90422485		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.7239G>T	6.37:g.90422485C>A	ENSP00000358400:p.Glu2413Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E2413D	ENST00000369393.3	37	c.7239	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404296	0.25378	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03524	3.9;3.9	5.62	4.5	0.54988	.	0.326514	0.32028	N	0.006692	T	0.00906	0.0030	N	0.19112	0.55	0.33667	D	0.610503	B	0.25667	0.131	B	0.18561	0.022	T	0.48875	-0.8996	10	0.14252	T	0.57	.	12.092	0.53733	0.0:0.8971:0.0:0.1029	.	2413	Q9NU22	MDN1_HUMAN	D	2413	ENSP00000358400:E2413D;ENSP00000413970:E2413D	ENSP00000358400:E2413D	E	-	3	2	MDN1	90479206	1.000000	0.71417	0.998000	0.56505	0.351000	0.29236	1.052000	0.30429	1.024000	0.39682	0.467000	0.42956	GAG	MDN1	-	pirsf_Midasin		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90422485	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	A
MECOM	2122	genome.wustl.edu	37	3	168819948	168819948	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:168819948C>T	ENST00000464456.1	-	9	3280	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	MECOM_ENST00000392736.3_Missense_Mutation_p.E703K|MECOM_ENST00000494292.1_Missense_Mutation_p.E882K|MECOM_ENST00000460814.1_Missense_Mutation_p.E694K|MECOM_ENST00000472280.1_Missense_Mutation_p.E704K|MECOM_ENST00000468789.1_Missense_Mutation_p.E703K|MECOM_ENST00000433243.2_Missense_Mutation_p.E704K|MECOM_ENST00000264674.3_Missense_Mutation_p.E768K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTAAGAGCTCACTGGCCTCA	0.507																																																	0													86.0	77.0	80.0					3																	168819948		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2080G>A	3.37:g.168819948C>T	ENSP00000419770:p.Glu694Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E882K	ENST00000464456.1	37	c.2644	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581107	0.46006	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05786	3.46;3.46;3.39;3.56;3.39;3.46;3.39;3.56	5.45	5.45	0.79879	.	0.315207	0.29028	N	0.013375	T	0.06416	0.0165	N	0.22421	0.69	0.51482	D	0.999925	B;B;B;B;B	0.28850	0.225;0.152;0.144;0.185;0.072	B;B;B;B;B	0.29598	0.104;0.036;0.048;0.079;0.015	T	0.48525	-0.9028	10	0.17832	T	0.49	-17.4907	19.688	0.95987	0.0:1.0:0.0:0.0	.	891;695;882;768;703	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	768;703;694;704;882;703;694;704	ENSP00000264674:E768K;ENSP00000376493:E703K;ENSP00000419770:E694K;ENSP00000420048:E704K;ENSP00000417899:E882K;ENSP00000419995:E703K;ENSP00000420466:E694K;ENSP00000394302:E704K	ENSP00000264674:E768K	E	-	1	0	MECOM	170302642	0.992000	0.36948	1.000000	0.80357	0.691000	0.40173	2.924000	0.48876	2.730000	0.93505	0.655000	0.94253	GAG	MECOM	-	NULL		0.507	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	C	NM_005241, NM_004991		168819948	-1	no_errors	ENST00000494292	ensembl	human	known	70_37	missense	SNP	1.000	T
MECOM	2122	genome.wustl.edu	37	3	168834457	168834457	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:168834457G>C	ENST00000464456.1	-	7	1839	c.639C>G	c.(637-639)tgC>tgG	p.C213W	MECOM_ENST00000392736.3_Missense_Mutation_p.C213W|MECOM_ENST00000494292.1_Missense_Mutation_p.C401W|MECOM_ENST00000460814.1_Missense_Mutation_p.C213W|MECOM_ENST00000472280.1_Missense_Mutation_p.C214W|MECOM_ENST00000468789.1_Missense_Mutation_p.C213W|MECOM_ENST00000433243.2_Missense_Mutation_p.C214W|MECOM_ENST00000264674.3_Missense_Mutation_p.C278W	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTGGGTTCTGCAATCAGCAT	0.428																																																	0													448.0	367.0	394.0					3																	168834457		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.639C>G	3.37:g.168834457G>C	ENSP00000419770:p.Cys213Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C401W	ENST00000464456.1	37	c.1203	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331900	0.60853	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.60171	0.21;3.33;3.3;0.21;3.26;3.33;3.29;0.21	6.03	6.03	0.97812	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.71626	0.3362	L	0.39245	1.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.994;0.996;0.998;0.996	T	0.71833	-0.4473	10	0.87932	D	0	-10.0323	20.5568	0.99304	0.0:0.0:1.0:0.0	.	401;214;401;278;213	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	W	278;213;213;214;401;213;213;214	ENSP00000264674:C278W;ENSP00000376493:C213W;ENSP00000419770:C213W;ENSP00000420048:C214W;ENSP00000417899:C401W;ENSP00000419995:C213W;ENSP00000420466:C213W;ENSP00000394302:C214W	ENSP00000264674:C278W	C	-	3	2	MECOM	170317151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.726000	0.68515	2.861000	0.98227	0.655000	0.94253	TGC	MECOM	-	pfscan_Znf_C2H2		0.428	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	G	NM_005241, NM_004991		168834457	-1	no_errors	ENST00000494292	ensembl	human	known	70_37	missense	SNP	1.000	C
MED1	5469	genome.wustl.edu	37	17	37565069	37565069	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:37565069C>G	ENST00000300651.6	-	17	3628	c.3405G>C	c.(3403-3405)caG>caC	p.Q1135H	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAGAAGACCCCTGGCTAGAAT	0.493										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													56.0	53.0	54.0					17																	37565069		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3405G>C	17.37:g.37565069C>G	ENSP00000300651:p.Gln1135His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.Q1135H	ENST00000300651.6	37	c.3405	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.982909	0.02180	.	.	ENSG00000125686	ENST00000300651	T	0.33216	1.42	5.35	0.729	0.18266	.	.	.	.	.	T	0.21590	0.0520	N	0.19112	0.55	0.45914	D	0.998752	P	0.52316	0.952	P	0.45881	0.496	T	0.02184	-1.1199	9	0.41790	T	0.15	-7.5444	9.9639	0.41712	0.0:0.3817:0.0:0.6183	.	1135	Q15648	MED1_HUMAN	H	1135	ENSP00000300651:Q1135H	ENSP00000300651:Q1135H	Q	-	3	2	MED1	34818595	0.613000	0.27009	0.993000	0.49108	0.671000	0.39405	-0.324000	0.07986	0.001000	0.14605	-0.302000	0.09304	CAG	MED1	-	NULL		0.493	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	C	NM_004774		37565069	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	0.953	G
MED10	84246	genome.wustl.edu	37	5	6374449	6374449	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:6374449G>A	ENST00000255764.3	-	3	407	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	99					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TCATGGTGTCGATCTTGCCTT	0.423																																																	0													193.0	185.0	187.0					5																	6374449		2203	4300	6503	SO:0001819	synonymous_variant	84246				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.297C>T	5.37:g.6374449G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C6G491	Silent	SNP	pfam_Mediator_Med10	p.I99	ENST00000255764.3	37	c.297	CCDS34134.1	5																																																																																			MED10	-	pfam_Mediator_Med10		0.423	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED10	HGNC	protein_coding	OTTHUMT00000365714.1	G	NM_032286		6374449	-1	no_errors	ENST00000255764	ensembl	human	known	70_37	silent	SNP	0.019	A
MED17	9440	genome.wustl.edu	37	11	93517725	93517725	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:93517725G>A	ENST00000251871.3	+	1	333	c.46G>A	c.(46-48)Gag>Aag	p.E16K	MED17_ENST00000530819.1_Missense_Mutation_p.E16K	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	16					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCGGCCTGCGAGAAGCAGGT	0.652																																																	0													45.0	37.0	39.0					11																	93517725		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.46G>A	11.37:g.93517725G>A	ENSP00000251871:p.Glu16Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	pfam_Mediator_Med17	p.E16K	ENST00000251871.3	37	c.46	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.432425	0.97564	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.58060	0.36;0.36;0.36	5.76	5.76	0.90799	.	0.110861	0.64402	D	0.000002	T	0.71533	0.3351	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.71807	-0.4481	10	0.66056	D	0.02	-29.3588	19.9616	0.97254	0.0:0.0:1.0:0.0	.	16;16	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	K	16	ENSP00000251871:E16K;ENSP00000434459:E16K;ENSP00000431524:E16K	ENSP00000251871:E16K	E	+	1	0	MED17	93157373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.985000	0.93487	2.724000	0.93272	0.561000	0.74099	GAG	MED17	-	pfam_Mediator_Med17		0.652	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	G	NM_004268		93517725	+1	no_errors	ENST00000251871	ensembl	human	known	70_37	missense	SNP	1.000	A
MED23	9439	genome.wustl.edu	37	6	131919835	131919835	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:131919835C>T	ENST00000368068.3	-	19	2466	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	MED23_ENST00000354577.4_Missense_Mutation_p.E769K|MED23_ENST00000540546.1_Missense_Mutation_p.E769K|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368058.1_Missense_Mutation_p.E769K|MED23_ENST00000545957.1_Missense_Mutation_p.E404K|MED23_ENST00000403834.3_Missense_Mutation_p.E769K|MED23_ENST00000368053.4_Missense_Mutation_p.E769K|MED23_ENST00000368060.3_Missense_Mutation_p.E763K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	763					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCCTATACTCCTCCTCCACA	0.383																																																	0													176.0	169.0	171.0					6																	131919835		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2287G>A	6.37:g.131919835C>T	ENSP00000357047:p.Glu763Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.E769K	ENST00000368068.3	37	c.2305	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.680231	0.96774	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;1.0	D;D;D;D	0.91635	0.998;0.953;0.999;0.998	D	0.86018	0.1505	10	0.72032	D	0.01	-5.2559	20.6208	0.99490	0.0:1.0:0.0:0.0	.	404;769;763;769	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	769;763;769;763;769;404;769;769	ENSP00000346588:E769K;ENSP00000357047:E763K;ENSP00000384536:E769K;ENSP00000357039:E763K;ENSP00000357037:E769K;ENSP00000439977:E404K;ENSP00000357032:E769K;ENSP00000437818:E769K	ENSP00000346588:E769K	E	-	1	0	MED23	131961528	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAG	MED23	-	pfam_Mediator_Med23		0.383	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	C			131919835	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	missense	SNP	1.000	T
MED29	55588	genome.wustl.edu	37	19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39883109G>C	ENST00000599213.2	+	2	249	c.222G>C	c.(220-222)ttG>ttC	p.L74F	PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.L74F|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Missense_Mutation_p.L95F			Q9NX70	MED29_HUMAN	mediator complex subunit 29	74	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433																																																	0													112.0	109.0	110.0					19																	39883109		2203	4300	6503	SO:0001583	missense	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.222G>C	19.37:g.39883109G>C	ENSP00000471802:p.Leu74Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_Mediator_Med29_met	p.L95F	ENST00000599213.2	37	c.285		19	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997944	0.54147	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	3.39	0.38822	.	0.164727	0.39020	N	0.001494	T	0.58921	0.2156	L	0.44542	1.39	0.37756	D	0.926157	D;D	0.89917	1.0;0.993	D;D	0.77557	0.99;0.94	T	0.62520	-0.6837	9	0.62326	D	0.03	-26.1584	5.7893	0.18351	0.1059:0.1989:0.6952:0.0	.	74;95	Q9NX70;B4DUA7	MED29_HUMAN;.	F	95;13	.	ENSP00000314343:L95F	L	+	3	2	MED29	44574949	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.293000	0.33353	1.062000	0.40625	0.563000	0.77884	TTG	MED29	-	pfam_Mediator_Med29_met		0.433	MED29-011	KNOWN	basic|appris_candidate	protein_coding	MED29	HGNC	protein_coding	OTTHUMT00000470870.1	G	XM_290829		39883109	+1	no_errors	ENST00000315588	ensembl	human	known	70_37	missense	SNP	1.000	C
MED29	55588	genome.wustl.edu	37	19	39884192	39884192	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39884192G>C	ENST00000599213.2	+	3	302		c.e3-1		PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Splice_Site|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Splice_Site			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTGTCTGTAGAAAGAGCAGT	0.473																																																	0													170.0	171.0	170.0					19																	39884192		2203	4300	6503	SO:0001630	splice_region_variant	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.276-1G>C	19.37:g.39884192G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Splice_Site	SNP	-	e3-1	ENST00000599213.2	37	c.339-1		19	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943457	0.53079	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4916	0.67654	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED29	44576032	1.000000	0.71417	0.997000	0.53966	0.613000	0.37349	9.174000	0.94824	2.261000	0.74972	0.558000	0.71614	.	MED29	-	-		0.473	MED29-011	KNOWN	basic|appris_candidate	protein_coding	MED29	HGNC	protein_coding	OTTHUMT00000470870.1	G	XM_290829	Intron	39884192	+1	no_errors	ENST00000315588	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MEI1	150365	genome.wustl.edu	37	22	42174800	42174800	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:42174800G>A	ENST00000401548.3	+	22	2839	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	MEI1_ENST00000540880.1_Missense_Mutation_p.E258K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Intron	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCGTGGCCATGAAGCTCCTTC	0.582																																																	0													53.0	54.0	54.0					22																	42174800		2109	4233	6342	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2799G>A	22.37:g.42174800G>A	ENSP00000384115:p.Met933Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M933I	ENST00000401548.3	37	c.2799	CCDS46718.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517904|2.517904	0.44763|0.44763	.|.	.|.	ENSG00000167077|ENSG00000167077	ENST00000540880|ENST00000401548;ENST00000419798	T|T	0.49432|0.61980	0.78|0.06	5.11|5.11	4.08|4.08	0.47627|0.47627	.|.	.|0.211212	.|0.47455	.|D	.|0.000240	T|T	0.52468|0.52468	0.1736|0.1736	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25441	.|0.126;0.126;0.126	.|B;B;B	.|0.25614	.|0.038;0.062;0.038	T|T	0.53920|0.53920	-0.8370|-0.8370	7|10	0.87932|0.42905	D|T	0|0.14	-10.0821|-10.0821	6.7196|6.7196	0.23323|0.23323	0.0951:0.1819:0.723:0.0|0.0951:0.1819:0.723:0.0	.|.	.|176;301;933	.|Q5TIA1-5;Q5TIA1-2;Q5TIA1	.|.;.;MEI1_HUMAN	K|I	258|933;43	ENSP00000437436:E258K|ENSP00000384115:M933I	ENSP00000437436:E258K|ENSP00000384115:M933I	E|M	+|+	1|3	0|0	MEI1|MEI1	40504746|40504746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.165000|2.165000	0.42396|0.42396	2.546000|2.546000	0.85860|0.85860	0.561000|0.561000	0.74099|0.74099	GAA|ATG	MEI1	-	NULL		0.582	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	G	NM_152513		42174800	+1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	1.000	A
MEIS1	4211	genome.wustl.edu	37	2	66664996	66664996	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:66664996C>G	ENST00000272369.9	+	2	597	c.140C>G	c.(139-141)tCg>tGg	p.S47W	MEIS1_ENST00000495021.2_5'Flank|MEIS1_ENST00000560281.2_Missense_Mutation_p.S47W|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000488550.1_Missense_Mutation_p.S47W|MEIS1_ENST00000444274.2_Missense_Mutation_p.S15W|MEIS1_ENST00000407092.2_Missense_Mutation_p.S47W|MEIS1_ENST00000398506.2_Missense_Mutation_p.S45W	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	47					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CCTCTGCACTCGCATCAGTAC	0.577																																																	0													41.0	45.0	43.0					2																	66664996		2108	4242	6350	SO:0001583	missense	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.140C>G	2.37:g.66664996C>G	ENSP00000272369:p.Ser47Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV50	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S47W	ENST00000272369.9	37	c.140	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806299	0.70682	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.66	5.66	0.87406	.	0.262242	0.37761	N	0.001959	T	0.45538	0.1347	N	0.19112	0.55	0.80722	D	1	D;D;D	0.59357	0.985;0.978;0.985	P;P;P	0.61800	0.894;0.708;0.894	T	0.47535	-0.9110	10	0.72032	D	0.01	.	19.3704	0.94481	0.0:1.0:0.0:0.0	.	45;47;47	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	W	47;47;45;15	ENSP00000272369:S47W;ENSP00000384461:S47W;ENSP00000381518:S45W;ENSP00000403206:S15W	ENSP00000272369:S47W	S	+	2	0	MEIS1	66518500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.326000	0.79133	2.666000	0.90696	0.655000	0.94253	TCG	MEIS1	-	NULL		0.577	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	C	NM_002398		66664996	+1	no_errors	ENST00000407092	ensembl	human	known	70_37	missense	SNP	1.000	G
METTL11B	149281	genome.wustl.edu	37	1	170136706	170136706	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:170136706G>A	ENST00000439373.2	+	4	767	c.660G>A	c.(658-660)ttG>ttA	p.L220L		NM_001136107.1	NP_001129579.1	Q5VVY1	NTM1B_HUMAN	methyltransferase like 11B	220						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			NS(1)|breast(2)|endometrium(3)|prostate(2)	8						TCATCATATTGAAGGACAATG	0.522																																																	0													68.0	58.0	61.0					1																	170136706		692	1591	2283	SO:0001819	synonymous_variant	149281			AL445203, CAH72139	CCDS44275.1	1q24.2	2012-11-05	2008-06-11	2008-06-11	ENSG00000203740	ENSG00000203740			31932	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 184"""	C1orf184			Standard	NM_001136107		Approved	HOMT1B	uc009wvv.1	Q5VVY1	OTTHUMG00000035959	ENST00000439373.2:c.660G>A	1.37:g.170136706G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI0	Silent	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik	p.L220	ENST00000439373.2	37	c.660	CCDS44275.1	1																																																																																			METTL11B	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik		0.522	METTL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL11B	HGNC	protein_coding	OTTHUMT00000087586.2	G	NM_001136107		170136706	+1	no_errors	ENST00000439373	ensembl	human	known	70_37	silent	SNP	0.335	A
MFHAS1	9258	genome.wustl.edu	37	8	8643422	8643422	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:8643422C>G	ENST00000276282.6	-	0	3855				MFHAS1_ENST00000520091.1_5'Flank	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1											endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CGTTGTCACTCAAGTTCACAG	0.547																																					Melanoma(103;1201 2045 17515 28966)												0																																										SO:0001624	3_prime_UTR_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.*110G>C	8.37:g.8643422C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CI0	RNA	SNP	-	NULL	ENST00000276282.6	37	NULL	CCDS34844.1	8																																																																																			MFHAS1	-	-		0.547	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2	C	NM_004225		8643422	-1	no_errors	ENST00000521881	ensembl	human	known	70_37	rna	SNP	0.000	G
MFHAS1	9258	genome.wustl.edu	37	8	8643428	8643428	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:8643428C>T	ENST00000276282.6	-	0	3849				MFHAS1_ENST00000520091.1_5'Flank	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1											endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CACTCAAGTTCACAGAACACG	0.557																																					Melanoma(103;1201 2045 17515 28966)												0																																										SO:0001624	3_prime_UTR_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.*104G>A	8.37:g.8643428C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CI0	RNA	SNP	-	NULL	ENST00000276282.6	37	NULL	CCDS34844.1	8																																																																																			MFHAS1	-	-		0.557	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2	C	NM_004225		8643428	-1	no_errors	ENST00000521881	ensembl	human	known	70_37	rna	SNP	0.096	T
MFSD2A	84879	genome.wustl.edu	37	1	40431611	40431611	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:40431611C>T	ENST00000372809.5	+	6	821	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.F213F|MFSD2A_ENST00000420632.2_Silent_p.F57F	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	226					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGCCTTGTTTCCAGGACCTCA	0.577																																																	0													126.0	100.0	109.0					1																	40431611		2203	4300	6503	SO:0001819	synonymous_variant	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.678C>T	1.37:g.40431611C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F226	ENST00000372809.5	37	c.678	CCDS44118.1	1																																																																																			MFSD2A	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.577	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	HGNC	protein_coding	OTTHUMT00000025756.1	C	NM_032793		40431611	+1	no_errors	ENST00000372809	ensembl	human	known	70_37	silent	SNP	0.026	T
PTPN6	5777	genome.wustl.edu	37	12	7073317	7073317	+	IGR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:7073317C>G	ENST00000318974.9	+	0	2245				U47924.27_ENST00000537269.1_lincRNA|U47924.29_ENST00000606539.1_RNA|MIR141_ENST00000384975.1_RNA|MIR200C_ENST00000384980.1_RNA	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGTGAAGCTCCTAACACTGTC	0.562																																																	0													50.0	52.0	52.0					12																	7073317		1568	3581	5149	SO:0001628	intergenic_variant	406933				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518		12.37:g.7073317C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K306|G3V0F8|Q969V8|Q9UK67	RNA	SNP	-	NULL	ENST00000318974.9	37	NULL	CCDS44820.1	12																																																																																			MIR141	-	-		0.562	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR141	HGNC	protein_coding	OTTHUMT00000400023.1	C	NM_002831		7073317	+1	no_errors	ENST00000384975	ensembl	human	known	70_37	rna	SNP	1.000	G
AATF	26574	genome.wustl.edu	37	17	35391067	35391067	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:35391067C>G	ENST00000225402.5	+	11	1870				CTC-268N12.3_ENST00000589221.1_RNA|MIR2909_ENST00000581942.1_RNA	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor						apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|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 mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ATctcttggtctttcccctgt	0.473																																					NSCLC(49;901 1159 19183 41572 46244)												0																																										SO:0001627	intron_variant	100422969			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1619+2085C>G	17.37:g.35391067C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	RNA	SNP	-	NULL	ENST00000225402.5	37	NULL	CCDS32632.1	17																																																																																			MIR2909	-	-		0.473	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR2909	HGNC	protein_coding	OTTHUMT00000451543.1	C	NM_012138		35391067	+1	no_errors	ENST00000581942	ensembl	human	known	70_37	rna	SNP	0.007	G
TRIM25	7706	genome.wustl.edu	37	17	54968690	54968690	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:54968690C>T	ENST00000316881.4	-	0	2313				TRIM25_ENST00000537230.1_Intron|MIR3614_ENST00000581261.1_RNA|RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000573108.1_Intron	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GGGCAGCCTTCAGATCCAAGT	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	100500827			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.*371G>A	17.37:g.54968690C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000316881.4	37	NULL	CCDS11591.1	17																																																																																			MIR3614	-	-		0.453	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3614	HGNC	protein_coding	OTTHUMT00000440609.1	C	NM_005082		54968690	-1	no_errors	ENST00000581261	ensembl	human	known	70_37	rna	SNP	0.009	T
MKI67	4288	genome.wustl.edu	37	10	129906098	129906098	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:129906098G>C	ENST00000368654.3	-	13	4381	c.4006C>G	c.(4006-4008)Cct>Gct	p.P1336A	MKI67_ENST00000368653.3_Missense_Mutation_p.P976A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1336	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCCTTAGGAGTTTGTGGC	0.502																																																	0													150.0	153.0	152.0					10																	129906098		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4006C>G	10.37:g.129906098G>C	ENSP00000357643:p.Pro1336Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P1336A	ENST00000368654.3	37	c.4006	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111361	0.37242	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02606	4.23;4.23	4.07	-1.52	0.08637	.	0.407124	0.18027	N	0.154041	T	0.06962	0.0177	M	0.70595	2.14	0.09310	N	1	B;P;D	0.67145	0.27;0.461;0.996	B;B;P	0.58077	0.059;0.135;0.832	T	0.17410	-1.0370	10	0.32370	T	0.25	.	5.1723	0.15116	0.3064:0.1581:0.5355:0.0	.	1335;976;1336	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1336;976;1335	ENSP00000357643:P1336A;ENSP00000357642:P976A	ENSP00000357642:P976A	P	-	1	0	MKI67	129796088	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.656000	0.24948	-0.626000	0.05596	-0.311000	0.09066	CCT	MKI67	-	pfam_K167R		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129906098	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.001	C
KMT2D	8085	genome.wustl.edu	37	12	49421925	49421925	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49421925C>T	ENST00000301067.7	-	46	14382		c.e46-1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATTCAGGTTCTGCCAGGGCC	0.592																																																	0													38.0	41.0	40.0					12																	49421925		2148	4248	6396	SO:0001630	splice_region_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14383-1G>A	12.37:g.49421925C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Splice_Site	SNP	-	e46-1	ENST00000301067.7	37	c.14383-1	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420057	0.62622	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47708192	1.000000	0.71417	0.998000	0.56505	0.550000	0.35303	7.333000	0.79214	2.627000	0.88993	0.561000	0.74099	.	MLL2	-	-		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C		Intron	49421925	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	splice_site	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151877932	151877932	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:151877932G>A	ENST00000262189.6	-	36	7231	c.7013C>T	c.(7012-7014)tCa>tTa	p.S2338L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2338L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2338					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAGAGTTTGAAGATGCACA	0.493																																																	0													106.0	90.0	96.0					7																	151877932		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7013C>T	7.37:g.151877932G>A	ENSP00000262189:p.Ser2338Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2338L	ENST00000262189.6	37	c.7013	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029232	0.07589	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84223	-1.82;-1.82	5.25	4.38	0.52667	.	0.652169	0.12570	N	0.457416	T	0.79393	0.4438	L	0.51422	1.61	0.80722	D	1	B;P	0.34587	0.049;0.458	B;B	0.28465	0.026;0.09	T	0.77648	-0.2509	10	0.72032	D	0.01	.	8.3752	0.32438	0.1435:0.1293:0.7271:0.0	.	2338;1399	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	2338	ENSP00000262189:S2338L;ENSP00000347325:S2338L	ENSP00000262189:S2338L	S	-	2	0	MLL3	151508865	1.000000	0.71417	0.012000	0.15200	0.012000	0.07955	2.513000	0.45494	1.356000	0.45884	0.650000	0.86243	TCA	MLL3	-	NULL		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877932	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.717	A
KMT2E	55904	genome.wustl.edu	37	7	104753436	104753436	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:104753436C>G	ENST00000311117.3	+	27	5778	c.5233C>G	c.(5233-5235)Caa>Gaa	p.Q1745E	KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1703E|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1745E	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1745	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCCACCTCATCAAGGACCTCC	0.552																																																	0													276.0	215.0	236.0					7																	104753436		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5233C>G	7.37:g.104753436C>G	ENSP00000312379:p.Gln1745Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1745E	ENST00000311117.3	37	c.5233	CCDS34723.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.042|7.042	0.562717|0.562717	0.13498|0.13498	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000393656|ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	.|D;D;D	.|0.92397	.|-3.03;-2.81;-3.03	3.94|3.94	3.94|3.94	0.45596|0.45596	.|.	.|0.000000	.|0.42420	.|D	.|0.000717	D|D	0.85301|0.85301	0.5665|0.5665	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P;B	.|0.39847	.|0.691;0.066	.|B;B	.|0.35353	.|0.201;0.032	D|D	0.86962|0.86962	0.2092|0.2092	6|10	0.59425|0.49607	D|T	0.04|0.09	.|.	16.3877|16.3877	0.83522|0.83522	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1665;1745	.|F8W6H1;Q8IZD2	.|.;MLL5_HUMAN	M|E	1527|1745;1703;1665;1745	.|ENSP00000312379:Q1745E;ENSP00000335599:Q1703E;ENSP00000257745:Q1745E	ENSP00000377266:I1527M|ENSP00000257745:Q1745E	I|Q	+|+	3|1	3|0	MLL5|MLL5	104540672|104540672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	5.900000|5.900000	0.69853|0.69853	1.934000|1.934000	0.56057|0.56057	0.454000|0.454000	0.30748|0.30748	ATC|CAA	MLL5	-	NULL		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753436	+1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	1.000	G
KMT2C	58508	genome.wustl.edu	37	7	151902229	151902229	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:151902229G>C	ENST00000262189.6	-	25	4141	c.3923C>G	c.(3922-3924)tCa>tGa	p.S1308*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1308*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1308					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATAGAGCCTGAGGAATCTTT	0.358																																																	0													75.0	66.0	69.0					7																	151902229		2203	4299	6502	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3923C>G	7.37:g.151902229G>C	ENSP00000262189:p.Ser1308*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S1308*	ENST00000262189.6	37	c.3923	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	46	12.168410	0.99643	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.71	5.71	0.89125	.	0.000000	0.37715	N	0.001979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	X	1308	.	ENSP00000262189:S1308X	S	-	2	0	MLL3	151533162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.839000	0.92120	2.699000	0.92147	0.650000	0.86243	TCA	MLL3	-	NULL		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151902229	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MMP2	4313	genome.wustl.edu	37	16	55536739	55536739	+	Missense_Mutation	SNP	C	C	G	rs375769898		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:55536739C>G	ENST00000219070.4	+	12	2327	c.1818C>G	c.(1816-1818)atC>atG	p.I606M	MMP2_ENST00000543485.1_Missense_Mutation_p.I530M|MMP2_ENST00000437642.2_Missense_Mutation_p.I556M|MMP2_ENST00000570308.1_Missense_Mutation_p.I530M	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	606	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCAAGCTCATCGCAGATGCCT	0.552																																																	0													88.0	74.0	78.0					16																	55536739		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1818C>G	16.37:g.55536739C>G	ENSP00000219070:p.Ile606Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.I606M	ENST00000219070.4	37	c.1818	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653231	0.67472	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.04917	3.53;3.53;3.53	5.63	-2.94	0.05581	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.91635	0.989;0.999	T	0.02484	-1.1152	10	0.87932	D	0	.	6.9015	0.24285	0.143:0.1908:0.0:0.6662	.	556;606	E9PE45;P08253	.;MMP2_HUMAN	M	606;530;556	ENSP00000219070:I606M;ENSP00000444143:I530M;ENSP00000394237:I556M	ENSP00000219070:I606M	I	+	3	3	MMP2	54094240	0.518000	0.26234	0.895000	0.35142	0.965000	0.64279	-0.232000	0.09055	-0.128000	0.11641	0.561000	0.74099	ATC	MMP2	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.552	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	C			55536739	+1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.966	G
MMP2	4313	genome.wustl.edu	37	16	55539267	55539267	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:55539267C>G	ENST00000219070.4	+	13	2405	c.1896C>G	c.(1894-1896)ttC>ttG	p.F632L	MMP2_ENST00000543485.1_Missense_Mutation_p.F556L|MMP2_ENST00000437642.2_Missense_Mutation_p.F582L|MMP2_ENST00000570308.1_Missense_Mutation_p.F556L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	632	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCTACTTCTTCAAGGGTGCCT	0.507																																																	0													162.0	159.0	160.0					16																	55539267		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1896C>G	16.37:g.55539267C>G	ENSP00000219070:p.Phe632Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.F632L	ENST00000219070.4	37	c.1896	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037568	0.54896	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.22743	1.94;1.94;1.94	5.38	4.43	0.53597	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	M	0.88105	2.93	0.80722	D	1	P;D	0.89917	0.787;1.0	B;D	0.71414	0.419;0.973	T	0.55774	-0.8088	10	0.38643	T	0.18	.	13.2135	0.59839	0.0:0.9215:0.0:0.0785	.	582;632	E9PE45;P08253	.;MMP2_HUMAN	L	632;556;582	ENSP00000219070:F632L;ENSP00000444143:F556L;ENSP00000394237:F582L	ENSP00000219070:F632L	F	+	3	2	MMP2	54096768	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.245000	0.51407	1.280000	0.44463	0.563000	0.77884	TTC	MMP2	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.507	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	C			55539267	+1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	1.000	G
MMP20	9313	genome.wustl.edu	37	11	102477320	102477320	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:102477320G>C	ENST00000260228.2	-	6	911	c.899C>G	c.(898-900)tCa>tGa	p.S300*	RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	319					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GTCAAAGGATGAGCTGGAGTC	0.567																																																	0													127.0	112.0	117.0					11																	102477320		2203	4299	6502	SO:0001587	stop_gained	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.899C>G	11.37:g.102477320G>C	ENSP00000260228:p.Ser300*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUA8|Q9H3Q0	Nonsense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.S300*	ENST00000260228.2	37	c.899	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.101371	0.94245	.	.	ENSG00000137674	ENST00000260228	.	.	.	5.45	4.55	0.56014	.	0.677020	0.14949	N	0.289003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4439	0.21865	0.29:0.0:0.71:0.0	.	.	.	.	X	300	.	ENSP00000260228:S300X	S	-	2	0	MMP20	101982530	0.003000	0.15002	0.379000	0.26080	0.791000	0.44710	1.692000	0.37731	1.544000	0.49359	0.650000	0.86243	TCA	MMP20	-	superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom		0.567	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	G			102477320	-1	no_errors	ENST00000260228	ensembl	human	known	70_37	nonsense	SNP	0.005	C
MMP28	79148	genome.wustl.edu	37	17	34100312	34100312	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:34100312G>A								C17orf50 (8214 upstream) : MMP28 (5196 downstream)																							TCCACAACTGGAAGGCGGCGC	0.642																																																	0													42.0	49.0	47.0					17																	34100312		2202	4299	6501	SO:0001628	intergenic_variant	79148																															17.37:g.34100312G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like	p.S159F		37	c.476		17																																																																																			MMP28	-	NULL	0	0.642					MMP28	HGNC			G			34100312	-1	no_errors	ENST00000587639	ensembl	human	known	70_37	missense	SNP	1.000	A
MMP9	4318	genome.wustl.edu	37	20	44640260	44640260	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:44640260C>A	ENST00000372330.3	+	6	890	c.871C>A	c.(871-873)Cca>Aca	p.P291T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	291	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTGCCAGTTTCCATTCATCTT	0.607											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112.0	102.0	105.0					20																	44640260		2203	4300	6503	SO:0001583	missense	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.871C>A	20.37:g.44640260C>A	ENSP00000361405:p.Pro291Thr	Somatic	925	WXS	Illumina HiSeq	Phase_IV	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.P291T	ENST00000372330.3	37	c.871	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775104	0.90108	.	.	ENSG00000100985	ENST00000372330	D	0.93488	-3.23	4.3	4.3	0.51218	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	D	0.97932	0.9320	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99297	1.0900	10	0.87932	D	0	.	16.3006	0.82807	0.0:1.0:0.0:0.0	.	291	P14780	MMP9_HUMAN	T	291	ENSP00000361405:P291T	ENSP00000361405:P291T	P	+	1	0	MMP9	44073667	1.000000	0.71417	0.787000	0.31911	0.944000	0.59088	7.508000	0.81686	2.395000	0.81488	0.561000	0.74099	CCA	MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	C			44640260	+1	no_errors	ENST00000372330	ensembl	human	known	70_37	missense	SNP	1.000	A
MMP9	4318	genome.wustl.edu	37	20	44640373	44640373	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:44640373C>T	ENST00000372330.3	+	6	1003	c.984C>T	c.(982-984)ttC>ttT	p.F328F	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	328	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F328L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCTTCGGCTTCTGCCCGACCC	0.637											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	urinary_tract(1)											53.0	47.0	49.0					20																	44640373		2203	4300	6503	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.984C>T	20.37:g.44640373C>T		Somatic	925	WXS	Illumina HiSeq	Phase_IV	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.F328	ENST00000372330.3	37	c.984	CCDS13390.1	20																																																																																			MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	C			44640373	+1	no_errors	ENST00000372330	ensembl	human	known	70_37	silent	SNP	1.000	T
MORC2	22880	genome.wustl.edu	37	22	31318351	31318351	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:31318351G>A	ENST00000397641.3	-	0	5181				MORC2-AS1_ENST00000609557.1_RNA|MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000432624.2_RNA|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CGGGATTGCGGAAGCCCTCCA	0.587																																																	0																																										SO:0001628	intergenic_variant	150291			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193		22.37:g.31318351G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNB1|Q9UF28|Q9Y6V2	RNA	SNP	-	NULL	ENST00000397641.3	37	NULL		22																																																																																			MORC2-AS1	-	-		0.587	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2-AS1	HGNC	protein_coding	OTTHUMT00000321710.2	G	NM_014941		31318351	+1	no_errors	ENST00000422995	ensembl	human	known	70_37	rna	SNP	0.000	A
MORF4L1	10933	genome.wustl.edu	37	15	79186509	79186509	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:79186509G>A	ENST00000331268.5	+	11	1060	c.856G>A	c.(856-858)Gca>Aca	p.A286T	MORF4L1_ENST00000558502.1_Missense_Mutation_p.A159T|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A159T|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A220T|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A272T|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A247T|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	286	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TGAAATTCTTGCAGATCATCC	0.398																																																	0													124.0	127.0	126.0					15																	79186509		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.856G>A	15.37:g.79186509G>A	ENSP00000331310:p.Ala286Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.A286T	ENST00000331268.5	37	c.856	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863221	0.51482	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.09255	3.0;3.0;3.0	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.52126	1.63	0.58432	D	0.999994	B;B	0.13145	0.007;0.0	B;B	0.17722	0.019;0.004	T	0.09037	-1.0693	10	0.13853	T	0.58	-28.9018	15.3039	0.73976	0.0:0.0:1.0:0.0	.	247;286	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	T	272;247;286	ENSP00000368850:A272T;ENSP00000408880:A247T;ENSP00000331310:A286T	ENSP00000331310:A286T	A	+	1	0	MORF4L1	76973564	1.000000	0.71417	0.255000	0.24374	0.920000	0.55202	6.369000	0.73109	1.992000	0.58205	0.585000	0.79938	GCA	MORF4L1	-	pfam_MRG_dom,pirsf_EAF3/MRG15		0.398	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79186509	+1	no_errors	ENST00000331268	ensembl	human	known	70_37	missense	SNP	1.000	A
MORF4L1	10933	genome.wustl.edu	37	15	79186545	79186545	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:79186545G>A	ENST00000331268.5	+	11	1096	c.892G>A	c.(892-894)Gga>Aga	p.G298R	MORF4L1_ENST00000558502.1_Missense_Mutation_p.G171R|MORF4L1_ENST00000559345.1_Missense_Mutation_p.G171R|MORF4L1_ENST00000558746.1_Missense_Mutation_p.G232R|MORF4L1_ENST00000379535.4_Missense_Mutation_p.G284R|MORF4L1_ENST00000426013.2_Missense_Mutation_p.G259R|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	298	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CCAGGTGTATGGAGCGCCACA	0.403																																																	0													106.0	108.0	107.0					15																	79186545		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.892G>A	15.37:g.79186545G>A	ENSP00000331310:p.Gly298Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.G298R	ENST00000331268.5	37	c.892	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360047	0.82353	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.61742	0.08;0.08;0.08	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89074	0.3471	10	0.87932	D	0	-3.8655	15.3039	0.73976	0.0:0.0:1.0:0.0	.	259;298	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	R	284;259;298	ENSP00000368850:G284R;ENSP00000408880:G259R;ENSP00000331310:G298R	ENSP00000331310:G298R	G	+	1	0	MORF4L1	76973600	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	9.606000	0.98325	1.992000	0.58205	0.585000	0.79938	GGA	MORF4L1	-	pfam_MRG_dom,pirsf_EAF3/MRG15		0.403	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79186545	+1	no_errors	ENST00000331268	ensembl	human	known	70_37	missense	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13224396	13224396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:13224396G>A	ENST00000319217.7	-	4	617	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	MPDZ_ENST00000546205.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.Q124*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	124					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGATAAGCTGATCAAATTCA	0.343																																																	0													120.0	115.0	116.0					9																	13224396		1834	4083	5917	SO:0001587	stop_gained	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.370C>T	9.37:g.13224396G>A	ENSP00000320006:p.Gln124*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.Q124*	ENST00000319217.7	37	c.370		9	.	.	.	.	.	.	.	.	.	.	G	37	6.080731	0.97267	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.72	5.72	0.89469	.	0.000000	0.42682	D	0.000673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.0925	0.65000	0.0717:0.0:0.9283:0.0	.	.	.	.	X	124	.	ENSP00000320006:Q124X	Q	-	1	0	MPDZ	13214396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.246000	0.58740	2.689000	0.91719	0.655000	0.94253	CAG	MPDZ	-	superfamily_PDZ		0.343	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13224396	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MPP3	4356	genome.wustl.edu	37	17	41891626	41891626	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41891626G>A	ENST00000398389.4	-	15	1278	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398393.1_Silent_p.Y396Y	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	371					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CCACCTCTTCGTAAGTCAGCA	0.612																																																	0													97.0	108.0	105.0					17																	41891626		1920	4132	6052	SO:0001819	synonymous_variant	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1113C>T	17.37:g.41891626G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Y371	ENST00000398389.4	37	c.1113	CCDS42344.1	17																																																																																			MPP3	-	NULL		0.612	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	G	NM_001932		41891626	-1	no_errors	ENST00000398389	ensembl	human	known	70_37	silent	SNP	0.991	A
MPV17L2	84769	genome.wustl.edu	37	19	18307151	18307151	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18307151C>T	ENST00000599612.2	+	0	1007					NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						AGGGCCCACTCTGCCAACCAG	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	84769			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.*286C>T	19.37:g.18307151C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.S304F	ENST00000599612.2	37	c.911	CCDS42522.1	19																																																																																			MPV17L2	-	NULL		0.587	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L2	HGNC	protein_coding	OTTHUMT00000466294.2	C	NM_032683		18307151	+1	no_errors	ENST00000599612	ensembl	human	known	70_37	missense	SNP	0.021	T
MRGPRF	116535	genome.wustl.edu	37	11	68773160	68773160	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:68773160G>A	ENST00000309099.6	-	3	1000	c.618C>T	c.(616-618)ttC>ttT	p.F206F	MRGPRF_ENST00000441623.1_Silent_p.F206F|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCAGAGCAGGAACAGGAGGA	0.687																																																	0													25.0	22.0	23.0					11																	68773160		2087	4108	6195	SO:0001819	synonymous_variant	116535			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.618C>T	11.37:g.68773160G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV43|Q8NBK8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F206	ENST00000309099.6	37	c.618	CCDS8188.1	11																																																																																			MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.687	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	G	NM_145015		68773160	-1	no_errors	ENST00000309099	ensembl	human	known	70_37	silent	SNP	0.575	A
CCDC130	81576	genome.wustl.edu	37	19	13875878	13875878	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:13875878G>A	ENST00000586600.1	+	0	1922				MRI1_ENST00000040663.6_Missense_Mutation_p.R109Q|MRI1_ENST00000319545.8_Missense_Mutation_p.R109Q			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GTTGCAGCCCGGGAGGCCGAA	0.662																																																	0													11.0	12.0	12.0					19																	13875878		2098	4057	6155	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875878G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ72	Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.R109Q	ENST00000586600.1	37	c.326	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	6.951	0.545376	0.13312	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.92249	-3.0;-3.0	5.47	-9.22	0.00675	.	0.876618	0.10101	N	0.716004	T	0.79592	0.4472	N	0.17278	0.47	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.001	T	0.63382	-0.6650	10	0.20519	T	0.43	-21.0147	10.0265	0.42074	0.6372:0.0:0.2627:0.1001	.	109;109	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	Q	109	ENSP00000040663:R109Q;ENSP00000314871:R109Q	ENSP00000040663:R109Q	R	+	2	0	MRI1	13736878	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-1.093000	0.03362	-1.586000	0.01632	-0.152000	0.13540	CGG	MRI1	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d		0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	G	NM_030818		13875878	+1	no_errors	ENST00000040663	ensembl	human	known	70_37	missense	SNP	0.003	A
CCDC130	81576	genome.wustl.edu	37	19	13875886	13875886	+	IGR	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:13875886G>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000040663.6_Nonsense_Mutation_p.E112*|MRI1_ENST00000319545.8_Nonsense_Mutation_p.E112*			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCGGGAGGCCGAACGGGAGGG	0.647																																																	0													13.0	14.0	13.0					19																	13875886		2103	4074	6177	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875886G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ72	Nonsense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.E112*	ENST00000586600.1	37	c.334	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.156426	0.94686	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	.	.	.	5.29	4.25	0.50352	.	0.378170	0.29838	N	0.011073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-45.0256	11.6942	0.51534	0.0866:0.0:0.9134:0.0	.	.	.	.	X	112	.	ENSP00000040663:E112X	E	+	1	0	MRI1	13736886	0.998000	0.40836	0.615000	0.29064	0.022000	0.10575	3.619000	0.54196	1.237000	0.43756	0.643000	0.83706	GAA	MRI1	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d		0.647	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	G	NM_030818		13875886	+1	no_errors	ENST00000040663	ensembl	human	known	70_37	nonsense	SNP	0.970	T
MRPS18B	28973	genome.wustl.edu	37	6	30593386	30593386	+	Missense_Mutation	SNP	G	G	C	rs533494503		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30593386G>C	ENST00000259873.4	+	7	746	c.589G>C	c.(589-591)Gac>Cac	p.D197H	ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376483.4_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000329992.8_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000330083.5_5'Flank|ATAT1_ENST00000376478.2_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	197					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GGTCTCAGGTGACCCCTGGTA	0.587																																																	0													122.0	139.0	133.0					6																	30593386		1510	2709	4219	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.589G>C	6.37:g.30593386G>C	ENSP00000259873:p.Asp197His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.D197H	ENST00000259873.4	37	c.589	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	G	8.763	0.923991	0.18056	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.48836	0.8	5.43	1.45	0.22620	.	0.523002	0.20080	N	0.099678	T	0.28167	0.0695	L	0.47716	1.5	0.09310	N	1	P;P	0.40875	0.731;0.612	P;B	0.49752	0.621;0.417	T	0.11717	-1.0576	10	0.49607	T	0.09	.	4.2497	0.10689	0.3679:0.1632:0.4689:0.0	.	154;197	Q5STN0;Q9Y676	.;RT18B_HUMAN	H	197;154	ENSP00000259873:D197H	ENSP00000259873:D197H	D	+	1	0	MRPS18B	30701365	0.736000	0.28164	0.012000	0.15200	0.001000	0.01503	2.026000	0.41069	0.426000	0.26116	-0.880000	0.02959	GAC	MRPS18B	-	NULL		0.587	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	G			30593386	+1	no_errors	ENST00000259873	ensembl	human	known	70_37	missense	SNP	0.000	C
MSN	4478	genome.wustl.edu	37	X	64949447	64949447	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:64949447G>A	ENST00000360270.5	+	4	512	c.340G>A	c.(340-342)Gat>Aat	p.D114N		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TCTCAATGATGATATTTACTG	0.502			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													108.0	81.0	90.0					X																	64949447		2203	4300	6503	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.340G>A	X.37:g.64949447G>A	ENSP00000353408:p.Asp114Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.D114N	ENST00000360270.5	37	c.340	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.505070	0.96371	.	.	ENSG00000147065	ENST00000360270	T	0.78126	-1.15	5.99	5.99	0.97316	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.042197	0.85682	D	0.000000	T	0.76271	0.3964	L	0.54323	1.7	0.80722	D	1	B	0.19200	0.034	B	0.22152	0.038	T	0.71248	-0.4649	10	0.48119	T	0.1	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	114	P26038	MOES_HUMAN	N	114	ENSP00000353408:D114N	ENSP00000353408:D114N	D	+	1	0	MSN	64866172	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.760000	0.98935	2.536000	0.85505	0.600000	0.82982	GAT	MSN	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain		0.502	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	G	NM_002444		64949447	+1	no_errors	ENST00000360270	ensembl	human	known	70_37	missense	SNP	1.000	A
MSTO1	55154	genome.wustl.edu	37	1	155580427	155580427	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155580427C>T	ENST00000245564.2	+	2	244				MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator						mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CCGTTATCTTCAAGACCCTCC	0.572																																																	0																																										SO:0001627	intron_variant	55154			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.220+76C>T	1.37:g.155580427C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	RNA	SNP	-	NULL	ENST00000245564.2	37	NULL	CCDS1114.1	1																																																																																			MSTO1	-	-		0.572	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	C	NM_018116		155580427	+1	no_errors	ENST00000471209	ensembl	human	known	70_37	rna	SNP	0.003	T
MTCH1	23787	genome.wustl.edu	37	6	36949389	36949389	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:36949389G>C	ENST00000373627.5	-	2	505	c.381C>G	c.(379-381)ctC>ctG	p.L127L	MTCH1_ENST00000538808.1_Intron|MTCH1_ENST00000373616.5_Silent_p.L127L	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	127					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCGGCAGATAGAGGACCTTCC	0.577																																																	0													62.0	53.0	56.0					6																	36949389		2203	4300	6503	SO:0001819	synonymous_variant	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.381C>G	6.37:g.36949389G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L127	ENST00000373627.5	37	c.381		6																																																																																			MTCH1	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.577	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	MTCH1	HGNC	protein_coding	OTTHUMT00000040396.1	G	NM_014341		36949389	-1	no_errors	ENST00000373627	ensembl	human	known	70_37	silent	SNP	1.000	C
MTERF1	7978	genome.wustl.edu	37	7	91502974	91502974	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:91502974G>A	ENST00000351870.3	-	3	1227	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	MTERF_ENST00000406735.2_Silent_p.I358I|MTERF_ENST00000419292.1_Silent_p.I358I	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		378					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ATAGAAGAGTGATGTTTAAAG	0.333																																																	0													75.0	71.0	73.0					7																	91502974		2202	4300	6502	SO:0001819	synonymous_variant	7978																														ENST00000351870.3:c.1134C>T	7.37:g.91502974G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.I378	ENST00000351870.3	37	c.1134	CCDS5621.1	7																																																																																			MTERF	-	pfam_Mit_transcrip_term-rel		0.333	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	G			91502974	-1	no_errors	ENST00000351870	ensembl	human	known	70_37	silent	SNP	0.001	A
MTHFR	4524	genome.wustl.edu	37	1	11863158	11863158	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:11863158T>C	ENST00000376592.1	-	1	144	c.16A>G	c.(16-18)Aga>Gga	p.R6G	MTHFR_ENST00000376585.1_Missense_Mutation_p.R47G|MTHFR_ENST00000376583.3_Missense_Mutation_p.R47G|MTHFR_ENST00000376590.3_Missense_Mutation_p.R6G			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	6					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTGTTTCCTCTGGCTTCGTTC	0.622																																																	0			GRCh37	CM013904	MTHFR	M							66.0	49.0	55.0					1																	11863158		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.16A>G	1.37:g.11863158T>C	ENSP00000365777:p.Arg6Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.R47G	ENST00000376592.1	37	c.139	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	T	6.493	0.459128	0.12342	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	D;D;D;D;T	0.82255	-1.57;-1.59;-1.57;-1.59;-1.45	4.83	-6.12	0.02124	.	0.794228	0.11687	N	0.539299	T	0.72486	0.3466	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.60419	-0.7267	10	0.87932	D	0	.	10.3236	0.43780	0.0:0.1906:0.5293:0.2801	.	6;47	P42898;Q5SNW6	MTHR_HUMAN;.	G	6;47;6;47;6;6;29;6;6	ENSP00000365777:R6G;ENSP00000365767:R47G;ENSP00000365775:R6G;ENSP00000365770:R47G;ENSP00000405082:R6G	ENSP00000365669:R6G	R	-	1	2	MTHFR	11785745	0.844000	0.29557	0.000000	0.03702	0.258000	0.26162	0.295000	0.19065	-0.863000	0.04084	0.448000	0.29417	AGA	MTHFR	-	NULL		0.622	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	T	NM_005957		11863158	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	missense	SNP	0.000	C
MTMR1	8776	genome.wustl.edu	37	X	149905769	149905769	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:149905769C>T	ENST00000370390.3	+	11	1455	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	MTMR1_ENST00000451863.2_Missense_Mutation_p.S433F|MTMR1_ENST00000544228.1_Missense_Mutation_p.S433F|MTMR1_ENST00000541925.1_Missense_Mutation_p.S339F|MTMR1_ENST00000538506.1_Missense_Mutation_p.S258F|MTMR1_ENST00000445323.2_Missense_Mutation_p.S441F	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	433	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAAACATCTGTGGTGGTG	0.443																																																	0													124.0	110.0	115.0					X																	149905769		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1298C>T	X.37:g.149905769C>T	ENSP00000359417:p.Ser433Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.S441F	ENST00000370390.3	37	c.1322	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862799	0.71949	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	4.88	4.88	0.63580	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99870	1.1095	10	0.87932	D	0	.	17.332	0.87267	0.0:1.0:0.0:0.0	.	433;441	Q13613;F8WA39	MTMR1_HUMAN;.	F	339;433;441;433;433;258	ENSP00000441879:S339F;ENSP00000359417:S433F;ENSP00000414178:S441F;ENSP00000440534:S433F;ENSP00000387446:S433F;ENSP00000443444:S258F	ENSP00000359417:S433F	S	+	2	0	MTMR1	149656427	1.000000	0.71417	0.016000	0.15963	0.639000	0.38242	7.818000	0.86416	2.015000	0.59207	0.544000	0.68410	TCT	MTMR1	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase		0.443	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	C	NM_003828, NM_176789		149905769	+1	no_errors	ENST00000445323	ensembl	human	known	70_37	missense	SNP	0.993	T
MTMR11	10903	genome.wustl.edu	37	1	149906184	149906184	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:149906184G>C	ENST00000439741.2	-	7	833	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V	MTMR11_ENST00000406732.3_Missense_Mutation_p.L167V|MTMR11_ENST00000369140.3_Missense_Mutation_p.L123V|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.L195V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	195							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)			GTCTCCATGAGAGGAATTGGT	0.552																																																	0													78.0	72.0	74.0					1																	149906184		2203	4300	6503	SO:0001583	missense	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.583C>G	1.37:g.149906184G>C	ENSP00000391668:p.Leu195Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.L195V	ENST00000439741.2	37	c.583	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629901	0.67015	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732;ENST00000405710	D;D;T;D	0.96830	-3.65;-3.68;0.52;-4.14	5.8	5.8	0.92144	.	0.078966	0.52532	D	0.000068	D	0.97077	0.9045	L	0.57536	1.79	0.37839	D	0.928986	D;D;D;D	0.71674	0.99;0.998;0.998;0.997	D;D;D;D	0.83275	0.979;0.996;0.99;0.978	D	0.96093	0.9063	10	0.31617	T	0.26	.	17.5569	0.87894	0.0:0.0:1.0:0.0	.	37;167;123;195	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	V	123;195;195;167;37	ENSP00000358136:L123V;ENSP00000391668:L195V;ENSP00000354941:L195V;ENSP00000383948:L167V	ENSP00000354941:L195V	L	-	1	0	MTMR11	148172808	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.497000	0.60367	2.735000	0.93741	0.655000	0.94253	CTC	MTMR11	-	NULL		0.552	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149906184	-1	no_errors	ENST00000439741	ensembl	human	known	70_37	missense	SNP	1.000	C
MTMR14	64419	genome.wustl.edu	37	3	9743521	9743521	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9743521C>T	ENST00000296003.4	+	19	1939	c.1817C>T	c.(1816-1818)tCa>tTa	p.S606L	CPNE9_ENST00000383832.3_5'Flank|MTMR14_ENST00000353332.5_Missense_Mutation_p.S554L|CPNE9_ENST00000383831.3_5'Flank|MTMR14_ENST00000420925.1_Missense_Mutation_p.S248L|MTMR14_ENST00000351233.5_Missense_Mutation_p.S494L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	606					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GAGGTGCGCTCAGCCTTCTTG	0.612																																																	0													45.0	51.0	49.0					3																	9743521		1970	4149	6119	SO:0001583	missense	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1817C>T	3.37:g.9743521C>T	ENSP00000296003:p.Ser606Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.S606L	ENST00000296003.4	37	c.1817	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697056	0.68386	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233	D	0.97404	-4.37	5.4	4.52	0.55395	.	0.174796	0.51477	D	0.000096	D	0.95281	0.8469	L	0.48642	1.525	0.27264	N	0.958555	B;B;P;B	0.40083	0.1;0.001;0.702;0.376	B;B;B;B	0.39904	0.054;0.005;0.313;0.115	D	0.90463	0.4447	10	0.52906	T	0.07	-5.3031	16.2775	0.82651	0.0:0.8675:0.1325:0.0	.	248;494;554;606	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	L	554;248;606;494	ENSP00000401993:S248L	ENSP00000296003:S606L	S	+	2	0	MTMR14	9718521	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	4.502000	0.60400	1.252000	0.44001	0.561000	0.74099	TCA	MTMR14	-	NULL		0.612	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	C	NM_022485		9743521	+1	no_errors	ENST00000296003	ensembl	human	known	70_37	missense	SNP	0.979	T
MTOR	2475	genome.wustl.edu	37	1	11174382	11174382	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:11174382C>A	ENST00000361445.4	-	53	7369	c.7293G>T	c.(7291-7293)ctG>ctT	p.L2431L	MTOR_ENST00000376838.1_Silent_p.L636L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2431	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CACTGTCCATCAGCCTCCAGT	0.542																																																	0													126.0	107.0	113.0					1																	11174382		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7293G>T	1.37:g.11174382C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2431	ENST00000361445.4	37	c.7293	CCDS127.1	1																																																																																			MTOR	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11174382	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	0.990	A
MTUS2	23281	genome.wustl.edu	37	13	30071452	30071452	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:30071452G>C	ENST00000380808.2	+	6	810	c.594G>C	c.(592-594)aaG>aaC	p.K198N	MTUS2_ENST00000542829.1_Missense_Mutation_p.K108N|MTUS2_ENST00000431530.3_Missense_Mutation_p.K1229N|MTUS2_ENST00000400542.3_3'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1219						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTTGAGGAAGAACACAGAGG	0.612																																																	0													35.0	45.0	42.0					13																	30071452		2071	4215	6286	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.594G>C	13.37:g.30071452G>C	ENSP00000370186:p.Lys198Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K1229N	ENST00000380808.2	37	c.3687	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983327	0.53827	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.28255	2.31;1.89;1.62	5.17	-1.15	0.09709	.	0.191073	0.56097	D	0.000038	T	0.36580	0.0972	L	0.47716	1.5	0.37464	D	0.915334	P;D	0.67145	0.934;0.996	P;P	0.59948	0.588;0.866	T	0.18147	-1.0346	9	.	.	.	.	9.3582	0.38179	0.6101:0.0:0.3899:0.0	.	198;1219	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	N	1229;198;108;155	ENSP00000392057:K1229N;ENSP00000370186:K198N;ENSP00000445403:K108N	.	K	+	3	2	MTUS2	28969452	1.000000	0.71417	0.978000	0.43139	0.442000	0.32017	1.341000	0.33907	-0.333000	0.08476	-0.302000	0.09304	AAG	MTUS2	-	NULL		0.612	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30071452	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.977	C
MUC16	94025	genome.wustl.edu	37	19	9089380	9089380	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9089380G>A	ENST00000397910.4	-	1	2638	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	812	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCAGCAGAGGTGCTGAG	0.522																																																	0													233.0	221.0	225.0					19																	9089380		2026	4185	6211	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2435C>T	19.37:g.9089380G>A	ENSP00000381008:p.Ser812Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S812F	ENST00000397910.4	37	c.2435	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.927	-0.446817	0.04572	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.56	0.437	0.16555	.	.	.	.	.	T	0.01421	0.0046	N	0.03608	-0.345	.	.	.	B	0.22211	0.066	B	0.17979	0.02	T	0.41378	-0.9512	8	0.87932	D	0	.	4.1545	0.10254	0.2295:0.0:0.7705:0.0	.	812	B5ME49	.	F	812	ENSP00000381008:S812F	ENSP00000381008:S812F	S	-	2	0	MUC16	8950380	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.359000	0.07632	0.206000	0.20587	0.205000	0.17691	TCT	MUC16	-	NULL		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9089380	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	A
MUC16	94025	genome.wustl.edu	37	19	9091665	9091665	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9091665C>T	ENST00000397910.4	-	1	353	c.150G>A	c.(148-150)gtG>gtA	p.V50V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	50	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGTTCTGTCACCACGATTG	0.512																																																	0													143.0	142.0	143.0					19																	9091665		2059	4198	6257	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.150G>A	19.37:g.9091665C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V50	ENST00000397910.4	37	c.150	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9091665	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9091809	9091809	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9091809C>A	ENST00000397910.4	-	1	209	c.6G>T	c.(4-6)ctG>ctT	p.L2L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGGTTTCAGCATGGACA	0.542																																																	0													48.0	46.0	46.0					19																	9091809		1963	4148	6111	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6G>T	19.37:g.9091809C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L2	ENST00000397910.4	37	c.6	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9091809	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.009	A
MUC17	140453	genome.wustl.edu	37	7	100675832	100675832	+	Missense_Mutation	SNP	G	G	A	rs563774308		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100675832G>A	ENST00000306151.4	+	3	1199	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	379	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTGCTGAAGCTACCAG	0.468																																																	0													189.0	196.0	194.0					7																	100675832		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1135G>A	7.37:g.100675832G>A	ENSP00000302716:p.Glu379Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E379K	ENST00000306151.4	37	c.1135	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336297	0.11013	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.21	0.234	0.15390	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.42993	0.797	B	0.28638	0.092	T	0.38134	-0.9675	9	0.06494	T	0.89	.	5.798	0.18397	0.2055:0.0:0.7945:0.0	.	379	Q685J3	MUC17_HUMAN	K	379	ENSP00000302716:E379K	ENSP00000302716:E379K	E	+	1	0	MUC17	100462552	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.263000	0.08670	0.090000	0.17273	0.383000	0.25322	GAA	MUC17	-	NULL		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100675832	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.012	A
MUC17	140453	genome.wustl.edu	37	7	100686128	100686128	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100686128G>C	ENST00000306151.4	+	3	11495	c.11431G>C	c.(11431-11433)Gaa>Caa	p.E3811Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3811	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTACGAGTGAAAGAAGCAC	0.478																																																	0													100.0	89.0	92.0					7																	100686128		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11431G>C	7.37:g.100686128G>C	ENSP00000302716:p.Glu3811Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E3811Q	ENST00000306151.4	37	c.11431	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	6.016	0.371428	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02121	4.44	1.14	1.14	0.20703	.	.	.	.	.	T	0.02267	0.0070	N	0.24115	0.695	0.09310	N	1	D	0.57257	0.979	P	0.49752	0.621	T	0.48525	-0.9028	9	0.15066	T	0.55	.	5.5758	0.17222	0.0:0.0:1.0:0.0	.	3811	Q685J3	MUC17_HUMAN	Q	3811	ENSP00000302716:E3811Q	ENSP00000302716:E3811Q	E	+	1	0	MUC17	100472848	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	0.825000	0.27393	0.593000	0.29745	0.187000	0.17357	GAA	MUC17	-	NULL		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100686128	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC2	4583	genome.wustl.edu	37	11	1082321	1082321	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1082321G>A	ENST00000441003.2	+	14	1803	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	MUC2_ENST00000359061.5_Silent_p.K592K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	592	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCTCCTGAAGAAGACAGAGA	0.662																																																	0													27.0	31.0	29.0					11																	1082321		1911	4093	6004	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1776G>A	11.37:g.1082321G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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.K592	ENST00000441003.2	37	c.1776		11																																																																																			MUC2	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1082321	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.069	A
MUC4	4585	genome.wustl.edu	37	3	195508585	195508585	+	Nonsense_Mutation	SNP	G	G	C	rs199625888	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:195508585G>C	ENST00000463781.3	-	2	10325	c.9866C>G	c.(9865-9867)tCa>tGa	p.S3289*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S3289*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGATGAGGAAGT	0.552																																																	0													15.0	15.0	15.0					3																	195508585		669	1561	2230	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9866C>G	3.37:g.195508585G>C	ENSP00000417498:p.Ser3289*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S3289*	ENST00000463781.3	37	c.9866	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	N	49	15.065667	0.99821	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	1.03	-1.48	0.08745	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1901	0.20520	0.2616:0.0:0.7384:0.0	.	.	.	.	X	3289	.	.	S	-	2	0	MUC4	196993364	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.253000	0.08794	-2.154000	0.00792	-2.047000	0.00414	TCA	MUC4	-	NULL		0.552	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195508585	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195514370	195514370	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:195514370G>C	ENST00000463781.3	-	2	4540	c.4081C>G	c.(4081-4083)Ctt>Gtt	p.L1361V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1361V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACATGAAGAGGGGTGGTG	0.577																																																	0													3.0	4.0	4.0					3																	195514370		71	544	615	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4081C>G	3.37:g.195514370G>C	ENSP00000417498:p.Leu1361Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L1361V	ENST00000463781.3	37	c.4081	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	1.442	-0.567283	0.03910	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.48522	0.81;0.81	0.312	-0.624	0.11552	.	.	.	.	.	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.31931	0.347	B	0.23018	0.043	T	0.10917	-1.0609	8	.	.	.	.	4.7827	0.13210	1.0E-4:0.0:0.6525:0.3474	.	1361	E7ESK3	.	V	1361	ENSP00000417498:L1361V;ENSP00000420243:L1361V	.	L	-	1	0	MUC4	196998765	0.000000	0.05858	0.003000	0.11579	0.050000	0.14768	-0.439000	0.06897	-0.890000	0.03945	0.089000	0.15464	CTT	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195514370	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.015	C
MUC4	4585	genome.wustl.edu	37	3	195515603	195515603	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:195515603G>C	ENST00000463781.3	-	2	3307	c.2848C>G	c.(2848-2850)Cca>Gca	p.P950A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P950A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	955	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCGGTTTGTGGAGATGTAAGC	0.572																																																	0													156.0	161.0	159.0					3																	195515603		2174	4258	6432	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2848C>G	3.37:g.195515603G>C	ENSP00000417498:p.Pro950Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P950A	ENST00000463781.3	37	c.2848	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.642	0.303206	0.10678	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.56941	0.43;0.46	2.66	0.736	0.18307	.	1.024750	0.07822	N	0.959925	T	0.48502	0.1503	N	0.19112	0.55	0.09310	N	1	D;P	0.54772	0.968;0.937	P;P	0.56474	0.773;0.799	T	0.41466	-0.9507	10	0.34782	T	0.22	.	7.209	0.25923	0.0:0.0:0.5192:0.4808	.	950;955	E7ESK3;Q99102	.;MUC4_HUMAN	A	950;950;924	ENSP00000417498:P950A;ENSP00000420243:P950A	ENSP00000376209:P924A	P	-	1	0	MUC4	196999998	0.001000	0.12720	0.009000	0.14445	0.186000	0.23388	0.306000	0.19279	0.178000	0.19917	0.579000	0.79373	CCA	MUC4	-	NULL		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195515603	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.107	C
MUC5B	727897	genome.wustl.edu	37	11	1263912	1263912	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1263912C>T	ENST00000529681.1	+	31	5860	c.5802C>T	c.(5800-5802)ccC>ccT	p.P1934P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P1937P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1934	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			PPPKVLT -> GTPHVS (in Ref. 4; CAA96577). {ECO:0000305}.	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)		GAACAGCTCCCCCTCCCAAAG	0.642																																																	0													128.0	160.0	149.0					11																	1263912		2171	4249	6420	SO:0001819	synonymous_variant	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.5802C>T	11.37:g.1263912C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	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.P1937	ENST00000529681.1	37	c.5811	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1263912	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.096	T
MUS81	80198	genome.wustl.edu	37	11	65632706	65632706	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65632706G>A	ENST00000308110.4	+	14	1766	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.E398K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	473					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GTCGGTGCGAGAAGTGTTTGC	0.607								Homologous recombination																																									0													92.0	96.0	95.0					11																	65632706		2201	4296	6497	SO:0001583	missense	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1417G>A	11.37:g.65632706G>A	ENSP00000307853:p.Glu473Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H7D9	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain	p.E473K	ENST00000308110.4	37	c.1417	CCDS8115.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260654|3.260654	0.59431|0.59431	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742|ENST00000529374	T;T;T|T	0.51071|0.14516	2.34;2.55;0.72|2.5	5.75|5.75	3.84|3.84	0.44239|0.44239	.|.	0.097175|.	0.64402|.	D|.	0.000002|.	T|T	0.31451|0.31451	0.0797|0.0797	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	P|.	0.44627|.	0.839|.	B|.	0.43082|.	0.407|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|6	0.62326|.	D|.	0.03|.	-12.4755|-12.4755	10.139|10.139	0.42723|0.42723	0.0773:0.1369:0.7858:0.0|0.0773:0.1369:0.7858:0.0	.|.	473|.	Q96NY9|.	MUS81_HUMAN|.	K|K	398;473;473;6|398	ENSP00000432287:E398K;ENSP00000307853:E473K;ENSP00000435277:E6K|ENSP00000434305:R398K	ENSP00000307853:E473K|.	E|R	+|+	1|2	0|0	MUS81|MUS81	65389282|65389282	1.000000|1.000000	0.71417|0.71417	0.241000|0.241000	0.24154|0.24154	0.802000|0.802000	0.45316|0.45316	6.160000|6.160000	0.71862|0.71862	1.417000|1.417000	0.47077|0.47077	0.511000|0.511000	0.50034|0.50034	GAA|AGA	MUS81	-	NULL		0.607	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	HGNC	protein_coding	OTTHUMT00000390941.3	G	NM_025128		65632706	+1	no_errors	ENST00000308110	ensembl	human	known	70_37	missense	SNP	0.955	A
MVK	4598	genome.wustl.edu	37	12	110013877	110013877	+	Silent	SNP	C	C	G	rs104895327		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:110013877C>G	ENST00000228510.3	+	3	229	c.153C>G	c.(151-153)ctC>ctG	p.L51L	MMAB_ENST00000540016.1_5'Flank|MMAB_ENST00000545712.2_5'Flank|MVK_ENST00000539575.1_Silent_p.L51L|MVK_ENST00000392727.3_Silent_p.L51L|MVK_ENST00000541384.1_5'UTR|MVK_ENST00000539696.1_Intron|MMAB_ENST00000266839.5_5'Flank|MVK_ENST00000535044.1_3'UTR	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	51					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGTGGACCTCAGCTTACCCA	0.498																																																	0													87.0	77.0	81.0					12																	110013877		2203	4300	6503	SO:0001819	synonymous_variant	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.153C>G	12.37:g.110013877C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.L51	ENST00000228510.3	37	c.153	CCDS9132.1	12																																																																																			MVK	-	superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin		0.498	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	C	NM_000431		110013877	+1	no_errors	ENST00000228510	ensembl	human	known	70_37	silent	SNP	0.844	G
MYBPC2	4606	genome.wustl.edu	37	19	50957558	50957558	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50957558C>T	ENST00000357701.5	+	18	1997	c.1946C>T	c.(1945-1947)tCg>tTg	p.S649L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	649	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.S649L(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGCATCACCTCGGTTGGAGAG	0.647																																																	1	Substitution - Missense(1)	endometrium(1)											42.0	45.0	44.0					19																	50957558		2049	4180	6229	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1946C>T	19.37:g.50957558C>T	ENSP00000350332:p.Ser649Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S649L	ENST00000357701.5	37	c.1946	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	15.50	2.852003	0.51270	.	.	ENSG00000086967	ENST00000357701	T	0.58797	0.31	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.818736	0.09614	U	0.778494	T	0.57373	0.2049	M	0.71581	2.175	0.09310	N	0.999995	P	0.40180	0.705	B	0.36666	0.23	T	0.54403	-0.8299	10	0.56958	D	0.05	.	12.345	0.55116	0.0:1.0:0.0:0.0	.	649	Q14324	MYPC2_HUMAN	L	649	ENSP00000350332:S649L	ENSP00000350332:S649L	S	+	2	0	MYBPC2	55649370	0.000000	0.05858	0.828000	0.32881	0.619000	0.37552	0.617000	0.24359	1.978000	0.57642	0.450000	0.29827	TCG	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50957558	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	0.378	T
MYCBP2	23077	genome.wustl.edu	37	13	77651193	77651193	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:77651193C>T	ENST00000544440.2	-	67	11628				MYCBP2_ENST00000407578.2_Intron|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Intron|MYCBP2-AS1_ENST00000422231.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAGAAATTTCTGTAATAAGT	0.299																																																	0																																										SO:0001627	intron_variant	100874212			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11610+89G>A	13.37:g.77651193C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000544440.2	37	NULL		13																																																																																			MYCBP2-AS1	-	-		0.299	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2-AS1	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77651193	+1	no_errors	ENST00000596342	ensembl	human	known	70_37	rna	SNP	0.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77670497	77670497	+	Missense_Mutation	SNP	G	G	A	rs201714806		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:77670497G>A	ENST00000544440.2	-	57	9807	c.9790C>T	c.(9790-9792)Cgc>Tgc	p.R3264C	MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3302C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTCTACAGCGATCACATACC	0.433																																																	0													179.0	153.0	162.0					13																	77670497		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9790C>T	13.37:g.77670497G>A	ENSP00000444596:p.Arg3264Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R3302C	ENST00000544440.2	37	c.9904		13	.	.	.	.	.	.	.	.	.	.	G	32	5.125269	0.94429	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30182	1.54;1.54;1.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.42378	-0.9455	10	0.56958	D	0.05	.	19.2193	0.93790	0.0:0.0:1.0:0.0	.	3264	O75592	MYCB2_HUMAN	C	3264;3302;3264	ENSP00000349892:R3264C;ENSP00000384288:R3302C;ENSP00000444596:R3264C	ENSP00000349892:R3264C	R	-	1	0	MYCBP2	76568498	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.732000	0.74790	2.524000	0.85096	0.655000	0.94253	CGC	MYCBP2	-	superfamily_ARM-type_fold		0.433	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77670497	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	A
MYF5	4617	genome.wustl.edu	37	12	81111256	81111256	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:81111256G>C	ENST00000228644.3	+	1	566	c.414G>C	c.(412-414)ctG>ctC	p.L138L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	138					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGGAGTTGCTGAGAGAGCAGG	0.582																																																	0													107.0	110.0	109.0					12																	81111256		2203	4300	6503	SO:0001819	synonymous_variant	4617				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.414G>C	12.37:g.81111256G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ISR9	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.L138	ENST00000228644.3	37	c.414	CCDS9020.1	12																																																																																			MYF5	-	superfamily_HLH_dom,smart_HLH_dom		0.582	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	G	NM_005593		81111256	+1	no_errors	ENST00000228644	ensembl	human	known	70_37	silent	SNP	1.000	C
MYH13	8735	genome.wustl.edu	37	17	10227404	10227404	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10227404C>G	ENST00000418404.3	-	22	3032	c.2869G>C	c.(2869-2871)Gac>Cac	p.D957H	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.D957H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	957					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATCAATGTCTCTCTTGAGA	0.468																																																	0													119.0	120.0	120.0					17																	10227404		2192	4300	6492	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2869G>C	17.37:g.10227404C>G	ENSP00000404570:p.Asp957His	Somatic		WXS	Illumina HiSeq	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D957H	ENST00000418404.3	37	c.2869	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455371	0.84209	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.94687	-3.49	4.37	4.37	0.52481	.	.	.	.	.	D	0.97467	0.9171	M	0.87900	2.915	0.52099	D	0.99994	P;D	0.89917	0.59;1.0	B;D	0.79784	0.087;0.993	D	0.98354	1.0545	9	0.87932	D	0	.	17.4708	0.87646	0.0:1.0:0.0:0.0	.	583;957	B4DFX9;Q9UKX3	.;MYH13_HUMAN	H	957;583	ENSP00000252172:D957H	ENSP00000252172:D957H	D	-	1	0	MYH13	10168129	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.522000	0.81844	2.407000	0.81776	0.655000	0.94253	GAC	MYH13	-	NULL		0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10227404	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH13	8735	genome.wustl.edu	37	17	10263307	10263307	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10263307C>A	ENST00000418404.3	-	6	778	c.615G>T	c.(613-615)aaG>aaT	p.K205N	MYH13_ENST00000252172.4_Missense_Mutation_p.K205N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	205	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTTCTTCTTGTCCCCGG	0.493																																																	0													82.0	85.0	84.0					17																	10263307		2203	4300	6503	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.615G>T	17.37:g.10263307C>A	ENSP00000404570:p.Lys205Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K205N	ENST00000418404.3	37	c.615	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019645	0.35606	.	.	ENSG00000006788	ENST00000252172	D	0.87887	-2.31	3.94	-0.332	0.12675	Myosin head, motor domain (2);	.	.	.	.	D	0.87414	0.6171	L	0.58354	1.805	0.35748	D	0.819173	B	0.28584	0.216	B	0.43754	0.43	D	0.85909	0.1439	9	0.59425	D	0.04	.	10.1693	0.42900	0.0:0.6131:0.0:0.3869	.	205	Q9UKX3	MYH13_HUMAN	N	205	ENSP00000252172:K205N	ENSP00000252172:K205N	K	-	3	2	MYH13	10204032	0.994000	0.37717	0.997000	0.53966	0.250000	0.25880	0.403000	0.20982	0.104000	0.17725	-0.140000	0.14226	AAG	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10263307	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	A
MYH1	4619	genome.wustl.edu	37	17	10408270	10408270	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10408270C>G	ENST00000226207.5	-	22	2642	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	850					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATCTCCTTCTCTGTCTCTGCA	0.453																																																	0													144.0	134.0	137.0					17																	10408270		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2548G>C	17.37:g.10408270C>G	ENSP00000226207:p.Glu850Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CA4|Q9Y622	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,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E850Q	ENST00000226207.5	37	c.2548	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606241	0.87157	.	.	ENSG00000109061	ENST00000226207	D	0.93763	-3.28	5.48	5.48	0.80851	.	0.000000	0.43416	U	0.000576	D	0.94165	0.8128	M	0.87900	2.915	0.54753	D	0.999986	P	0.36647	0.563	B	0.34093	0.175	D	0.94481	0.7693	10	0.72032	D	0.01	.	19.7157	0.96119	0.0:1.0:0.0:0.0	.	850	P12882	MYH1_HUMAN	Q	850	ENSP00000226207:E850Q	ENSP00000226207:E850Q	E	-	1	0	MYH1	10348995	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.692000	0.84203	2.749000	0.94314	0.655000	0.94253	GAG	MYH1	-	NULL		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10408270	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108118027	108118027	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:108118027C>G	ENST00000273353.3	-	35	4940	c.4884G>C	c.(4882-4884)aaG>aaC	p.K1628N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1628						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCCATCTTCTTCTTCAGCC	0.483																																																	0													101.0	103.0	102.0					3																	108118027		2154	4297	6451	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4884G>C	3.37:g.108118027C>G	ENSP00000273353:p.Lys1628Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K1628N	ENST00000273353.3	37	c.4884	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477083	0.63849	.	.	ENSG00000144821	ENST00000273353	D	0.90004	-2.6	5.91	3.09	0.35607	Myosin tail (1);	.	.	.	.	D	0.92848	0.7725	M	0.82132	2.575	0.50467	D	0.99987	D	0.59767	0.986	D	0.75484	0.986	D	0.91369	0.5118	9	0.87932	D	0	.	6.1093	0.20092	0.0:0.6085:0.1267:0.2649	.	1628	Q9Y2K3	MYH15_HUMAN	N	1628	ENSP00000273353:K1628N	ENSP00000273353:K1628N	K	-	3	2	MYH15	109600717	1.000000	0.71417	0.023000	0.16930	0.827000	0.46813	2.547000	0.45786	0.808000	0.34231	0.650000	0.86243	AAG	MYH15	-	pfam_Myosin_tail		0.483	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108118027	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108149726	108149726	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:108149726C>G	ENST00000273353.3	-	27	3381	c.3325G>C	c.(3325-3327)Gag>Cag	p.E1109Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1109						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGCCTTTCTCATTCTCCACT	0.318																																																	0													101.0	93.0	96.0					3																	108149726		1821	4084	5905	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3325G>C	3.37:g.108149726C>G	ENSP00000273353:p.Glu1109Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1109Q	ENST00000273353.3	37	c.3325	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983697	0.53827	.	.	ENSG00000144821	ENST00000273353	D	0.83419	-1.72	5.22	2.44	0.29823	Myosin tail (1);	.	.	.	.	D	0.85318	0.5669	M	0.68593	2.085	0.43058	D	0.994679	P	0.46578	0.88	P	0.53760	0.734	D	0.83726	0.0195	9	0.87932	D	0	.	8.7189	0.34428	0.0:0.7368:0.1248:0.1384	.	1109	Q9Y2K3	MYH15_HUMAN	Q	1109	ENSP00000273353:E1109Q	ENSP00000273353:E1109Q	E	-	1	0	MYH15	109632416	0.995000	0.38212	0.005000	0.12908	0.551000	0.35334	1.902000	0.39848	0.285000	0.22329	-0.262000	0.10625	GAG	MYH15	-	pfam_Myosin_tail		0.318	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108149726	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH2	4620	genome.wustl.edu	37	17	10429926	10429926	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10429926C>G	ENST00000245503.5	-	30	4561	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	MYH2_ENST00000397183.2_Missense_Mutation_p.E1393Q|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1393					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCCTCCTCCAGCTCCTCT	0.502																																																	0													157.0	146.0	150.0					17																	10429926		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4177G>C	17.37:g.10429926C>G	ENSP00000245503:p.Glu1393Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1393Q	ENST00000245503.5	37	c.4177	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.121413	0.94385	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85955	-2.05;-2.05	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.95348	0.8490	H	0.96833	3.89	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96644	0.9476	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1393	Q9UKX2	MYH2_HUMAN	Q	1393	ENSP00000245503:E1393Q;ENSP00000380367:E1393Q	ENSP00000245503:E1393Q	E	-	1	0	MYH2	10370651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	GAG	MYH2	-	pfam_Myosin_tail,superfamily_Ribosomal_L29		0.502	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10429926	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH4	4622	genome.wustl.edu	37	17	10357178	10357178	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10357178C>T	ENST00000255381.2	-	23	2826	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	906					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						CATCTTTCCTCTGCATCAGCC	0.373																																																	0													233.0	220.0	225.0					17																	10357178		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.2716G>A	17.37:g.10357178C>T	ENSP00000255381:p.Glu906Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		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.E906K	ENST00000255381.2	37	c.2716	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894789	0.91962	.	.	ENSG00000141048	ENST00000255381	D	0.94537	-3.45	5.43	5.43	0.79202	.	0.000000	0.37761	U	0.001944	D	0.98557	0.9518	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99445	1.0939	10	0.87932	D	0	.	19.5952	0.95535	0.0:1.0:0.0:0.0	.	906	Q9Y623	MYH4_HUMAN	K	906	ENSP00000255381:E906K	ENSP00000255381:E906K	E	-	1	0	MYH4	10297903	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.663000	0.83820	2.699000	0.92147	0.655000	0.94253	GAG	MYH4	-	NULL		0.373	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10357178	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH2	4620	genome.wustl.edu	37	17	10435166	10435166	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10435166G>A	ENST00000245503.5	-	22	2865	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	MYH2_ENST00000397183.2_Silent_p.F827F|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	827					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGACATTCATGAAGGATCTGA	0.433																																																	0													107.0	100.0	102.0					17																	10435166		2203	4300	6503	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2481C>T	17.37:g.10435166G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F827	ENST00000245503.5	37	c.2481	CCDS11156.1	17																																																																																			MYH2	-	NULL		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10435166	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	1.000	A
MYH7	4625	genome.wustl.edu	37	14	23902431	23902431	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:23902431C>G	ENST00000355349.3	-	4	369	c.207G>C	c.(205-207)gtG>gtC	p.V69V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	69					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTCACGGTCACTGTCTGCA	0.582																																																	0													176.0	135.0	149.0					14																	23902431		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.207G>C	14.37:g.23902431C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V69	ENST00000355349.3	37	c.207	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_N		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23902431	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10312482	10312482	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10312482C>G	ENST00000403437.2	-	17	1992		c.e17-1		RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCGCTGCTATCTGAGGTAAAA	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													49.0	51.0	50.0					17																	10312482		2202	4300	6502	SO:0001630	splice_region_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1898-1G>C	17.37:g.10312482C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14910	Splice_Site	SNP	-	e15-1	ENST00000403437.2	37	c.1898-1	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246243	0.22796	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9924	0.92798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10253207	0.944000	0.32072	0.923000	0.36655	0.048000	0.14542	4.596000	0.61055	2.736000	0.93811	0.655000	0.94253	.	MYH8	-	-		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472	Intron	10312482	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	splice_site	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36691727	36691727	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:36691727G>C	ENST00000216181.5	-	26	3539	c.3309C>G	c.(3307-3309)ctC>ctG	p.L1103L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1103					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGATCTTCTTGAGGGCCATGT	0.522			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													36.0	36.0	36.0					22																	36691727		2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3309C>G	22.37:g.36691727G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1103	ENST00000216181.5	37	c.3309	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.522	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36691727	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	0.648	C
MYLK	4638	genome.wustl.edu	37	3	123419273	123419273	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:123419273C>T	ENST00000475616.1	-	15	3041	c.3042G>A	c.(3040-3042)ctG>ctA	p.L1014L	MYLK_ENST00000360304.3_Silent_p.L1014L|MYLK_ENST00000346322.5_Silent_p.L945L|MYLK_ENST00000360772.3_Silent_p.L1014L|MYLK_ENST00000359169.1_Silent_p.L1014L|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1014	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGCATTGCTCAGGGGCTTGG	0.592																																																	0													88.0	92.0	91.0					3																	123419273		2203	4300	6503	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3042G>A	3.37:g.123419273C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L1014	ENST00000475616.1	37	c.3042	CCDS46896.1	3																																																																																			MYLK	-	NULL		0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	C	NM_053025		123419273	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	silent	SNP	0.000	T
MYO5A	4644	genome.wustl.edu	37	15	52632455	52632455	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52632455G>T	ENST00000399231.3	-	32	4420	c.4177C>A	c.(4177-4179)Cca>Aca	p.P1393T	MYO5A_ENST00000553916.1_Missense_Mutation_p.P1366T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1390T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1393T|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1366T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1393					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CGGGCCTCTGGGGGCAGCTGC	0.612																																																	0													57.0	62.0	60.0					15																	52632455		1912	4112	6024	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4177C>A	15.37:g.52632455G>T	ENSP00000382177:p.Pro1393Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P1393T	ENST00000399231.3	37	c.4177	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347354	0.82022	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.60845	1.875	0.80722	D	1	D;D;D;B;D	0.89917	0.992;1.0;0.997;0.269;0.976	P;D;D;B;P	0.74023	0.843;0.982;0.945;0.04;0.544	T	0.00343	-1.1802	10	0.19590	T	0.45	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	123;183;186;1393;1366	B5LY56;Q9UES5;O95317;Q9Y4I1;Q9Y4I1-2	.;.;.;MYO5A_HUMAN;.	T	1393;900;1390;1366;1393;996;1366;183	ENSP00000382177:P1393T;ENSP00000382179:P1390T;ENSP00000348693:P1366T;ENSP00000350945:P1393T;ENSP00000451109:P1366T;ENSP00000382174:P183T	ENSP00000348693:P1366T	P	-	1	0	MYO5A	50419747	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	2.960000	0.49161	2.941000	0.99782	0.655000	0.94253	CCA	MYO5A	-	NULL		0.612	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	G	NM_000259		52632455	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	0.999	T
MYO1E	4643	genome.wustl.edu	37	15	59430493	59430493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:59430493G>A	ENST00000288235.4	-	27	3553	c.3154C>T	c.(3154-3156)Cag>Tag	p.Q1052*		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1052	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGTGGCACCTGAGGCTTGGGC	0.532											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128.0	124.0	125.0					15																	59430493		2191	4291	6482	SO:0001587	stop_gained	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.3154C>T	15.37:g.59430493G>A	ENSP00000288235:p.Gln1052*	Somatic	1038	WXS	Illumina HiSeq	Phase_IV	Q14778	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Q1052*	ENST00000288235.4	37	c.3154	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824838	0.90955	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8362	0.96658	0.0:0.0:1.0:0.0	.	.	.	.	X	1052	.	ENSP00000288235:Q1052X	Q	-	1	0	MYO1E	57217785	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.841000	0.99482	2.684000	0.91462	0.585000	0.79938	CAG	MYO1E	-	superfamily_SH3_domain,pfscan_SH3_domain		0.532	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59430493	-1	no_errors	ENST00000288235	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYT1L	23040	genome.wustl.edu	37	2	1844769	1844769	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:1844769G>A	ENST00000399161.2	-	20	3522				MYT1L_ENST00000407844.1_Intron|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Intron	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		tccgcctcccgggttcacgcc	0.502																																																	0																																										SO:0001627	intron_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2775-154C>T	2.37:g.1844769G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			MYT1L	-	-		0.502	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	G	NM_015025		1844769	-1	no_errors	ENST00000471668	ensembl	human	known	70_37	rna	SNP	0.056	A
NAALAD2	10003	genome.wustl.edu	37	11	89883683	89883683	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:89883683G>A	ENST00000534061.1	+	5	747	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	NAALAD2_ENST00000375944.3_Missense_Mutation_p.E173K|NAALAD2_ENST00000525171.1_Missense_Mutation_p.E173K|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E173K	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	173					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCTCGCACTGAAGACTTTTT	0.299																																																	0													84.0	89.0	88.0					11																	89883683		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.517G>A	11.37:g.89883683G>A	ENSP00000432481:p.Glu173Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E173K	ENST00000534061.1	37	c.517	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908926	0.92107	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.13	5.13	0.70059	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000001	T	0.68906	0.3052	M	0.71920	2.185	0.80722	D	1	B;B;P;D;P	0.76494	0.307;0.175;0.8;0.999;0.833	B;B;B;D;P	0.87578	0.332;0.332;0.354;0.998;0.663	T	0.69397	-0.5156	9	.	.	.	-24.7701	18.6404	0.91393	0.0:0.0:1.0:0.0	.	173;173;173;173;173	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	K	173	ENSP00000432481:E173K;ENSP00000320083:E173K;ENSP00000435249:E173K;ENSP00000365111:E173K	.	E	+	1	0	NAALAD2	89523331	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.572000	0.82409	2.410000	0.81850	0.586000	0.80456	GAA	NAALAD2	-	pfam_Protease-assoc_domain		0.299	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89883683	+1	no_errors	ENST00000534061	ensembl	human	known	70_37	missense	SNP	1.000	A
NAALAD2	10003	genome.wustl.edu	37	11	89883714	89883714	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:89883714G>C	ENST00000534061.1	+	5	778	c.548G>C	c.(547-549)gGc>gCc	p.G183A	NAALAD2_ENST00000375944.3_Missense_Mutation_p.G183A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G183A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G183A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	183					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGAGAGATGGGCATCAACTGT	0.328																																																	0													87.0	95.0	93.0					11																	89883714		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.548G>C	11.37:g.89883714G>C	ENSP00000432481:p.Gly183Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.G183A	ENST00000534061.1	37	c.548	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309711	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.13	-1.44	0.08856	Protease-associated domain, PA (1);	1.342990	0.04573	N	0.393616	T	0.63236	0.2494	M	0.85099	2.735	0.44194	D	0.997016	P;P;B;B;B	0.37122	0.455;0.583;0.041;0.0;0.139	B;B;B;B;B	0.44315	0.365;0.446;0.055;0.001;0.098	T	0.56517	-0.7966	9	.	.	.	-0.1984	8.1998	0.31417	0.3213:0.1425:0.5362:0.0	.	183;183;183;183;183	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	183	ENSP00000432481:G183A;ENSP00000320083:G183A;ENSP00000435249:G183A;ENSP00000365111:G183A	.	G	+	2	0	NAALAD2	89523362	1.000000	0.71417	0.509000	0.27700	0.971000	0.66376	1.527000	0.35975	-0.551000	0.06175	-0.482000	0.04802	GGC	NAALAD2	-	pfam_Protease-assoc_domain		0.328	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89883714	+1	no_errors	ENST00000534061	ensembl	human	known	70_37	missense	SNP	0.936	C
NAB2	4665	genome.wustl.edu	37	12	57485124	57485124	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57485124G>A	ENST00000300131.3	+	2	678	c.300G>A	c.(298-300)caG>caA	p.Q100Q	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.Q100Q|NAB2_ENST00000357680.4_Silent_p.Q100Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	100	NCD1.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCGCCTGCAGAAGGCACTGA	0.602																																																	0													75.0	85.0	82.0					12																	57485124		2203	4300	6503	SO:0001819	synonymous_variant	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.300G>A	12.37:g.57485124G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAK3|O76006|Q14797	Silent	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.Q100	ENST00000300131.3	37	c.300	CCDS8930.1	12																																																																																			NAB2	-	pfam_Nab_N,superfamily_SAM/pointed		0.602	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57485124	+1	no_errors	ENST00000300131	ensembl	human	known	70_37	silent	SNP	1.000	A
NAP1L1	4673	genome.wustl.edu	37	12	76462755	76462755	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:76462755C>G	ENST00000261182.8	-	3	523	c.37G>C	c.(37-39)Gat>Cat	p.D13H	NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D13H|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D13H|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D13H|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D13H|NAP1L1_ENST00000431879.3_5'UTR	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	13	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AAATCTTGATCAAGTTCAGAC	0.313																																																	0													182.0	183.0	183.0					12																	76462755		2203	4300	6503	SO:0001583	missense	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.37G>C	12.37:g.76462755C>G	ENSP00000261182:p.Asp13His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNT8	Missense_Mutation	SNP	pfam_NAP_family	p.D13H	ENST00000261182.8	37	c.37	CCDS9013.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563691	0.86335	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000550934;ENST00000551992;ENST00000551600;ENST00000547704;ENST00000547479	T;T;T;T;T;T;T;T	0.40225	1.33;1.34;1.33;1.29;1.32;1.04;1.05;1.31	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.951;0.99;0.99	T	0.51733	-0.8668	10	0.30854	T	0.27	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	13;13;13;13	F5H4R6;F8W0J6;B3KNT8;P55209	.;.;.;NP1L1_HUMAN	H	13;7;13;13;13;13;13;13;13;13;13	ENSP00000261182:D13H;ENSP00000450236:D7H;ENSP00000376947:D13H;ENSP00000445008:D13H;ENSP00000447793:D13H;ENSP00000447196:D13H;ENSP00000448133:D13H;ENSP00000448764:D13H	ENSP00000261182:D13H	D	-	1	0	NAP1L1	74749022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.979000	0.70508	2.778000	0.95560	0.655000	0.94253	GAT	NAP1L1	-	NULL		0.313	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	C	NM_139207		76462755	-1	no_errors	ENST00000261182	ensembl	human	known	70_37	missense	SNP	1.000	G
NAV3	89795	genome.wustl.edu	37	12	78582497	78582497	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:78582497G>C	ENST00000397909.2	+	33	6168	c.5995G>C	c.(5995-5997)Gaa>Caa	p.E1999Q	NAV3_ENST00000552300.1_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.E1977Q|NAV3_ENST00000266692.7_Missense_Mutation_p.E1800Q|NAV3_ENST00000228327.6_Missense_Mutation_p.E1977Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1999						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAAGTGCCTGAATTGCTGCC	0.388										HNSCC(70;0.22)																																							0													118.0	113.0	114.0					12																	78582497		1914	4125	6039	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5995G>C	12.37:g.78582497G>C	ENSP00000381007:p.Glu1999Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1999Q	ENST00000397909.2	37	c.5995		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.125507|5.125507	0.94429|0.94429	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.30714|.	1.59;1.59;1.59;1.52;2.4|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.41097|.	U|.	0.000945|.	T|.	0.76364|.	0.3977|.	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.996;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.98;0.991;0.997;0.997|.	T|.	0.72969|.	-0.4130|.	10|.	0.48119|.	T|.	0.1|.	-15.0885|-15.0885	20.3967|20.3967	0.98985|0.98985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1977;1800;1999;1977|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Q|S	1977;1999;1977;1800;591;599|871	ENSP00000446132:E1977Q;ENSP00000381007:E1999Q;ENSP00000228327:E1977Q;ENSP00000266692:E1800Q;ENSP00000448303:E599Q|.	ENSP00000228327:E1977Q|.	E|X	+|+	1|2	0|2	NAV3|NAV3	77106628|77106628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.786000|9.786000	0.99046|0.99046	2.829000|2.829000	0.97493|0.97493	0.655000|0.655000	0.94253|0.94253	GAA|TGA	NAV3	-	NULL		0.388	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78582497	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	C
NBAS	51594	genome.wustl.edu	37	2	15427303	15427303	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:15427303G>C	ENST00000281513.5	-	42	5057	c.5032C>G	c.(5032-5034)Cta>Gta	p.L1678V	NBAS_ENST00000441750.1_Missense_Mutation_p.L1558V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1678					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCCTCTAGAGTTCTGCAG	0.473																																																	0													100.0	96.0	97.0					2																	15427303		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5032C>G	2.37:g.15427303G>C	ENSP00000281513:p.Leu1678Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.L1678V	ENST00000281513.5	37	c.5032	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207360	0.79240	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11385	2.78;2.97	5.55	5.55	0.83447	.	0.118666	0.64402	D	0.000018	T	0.33556	0.0867	M	0.76574	2.34	0.80722	D	1	D;D	0.62365	0.991;0.966	D;P	0.64506	0.926;0.77	T	0.01222	-1.1414	10	0.87932	D	0	.	17.8672	0.88799	0.0:0.0:1.0:0.0	.	1558;1678	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	V	1558;1678	ENSP00000413201:L1558V;ENSP00000281513:L1678V	ENSP00000281513:L1678V	L	-	1	2	NBAS	15344754	1.000000	0.71417	0.182000	0.23118	0.756000	0.42949	8.570000	0.90748	2.894000	0.99253	0.655000	0.94253	CTA	NBAS	-	NULL		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	G	NM_015909		15427303	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	0.991	C
NBEA	26960	genome.wustl.edu	37	13	36239230	36239230	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:36239230C>G	ENST00000400445.3	+	55	8842	c.8308C>G	c.(8308-8310)Ccg>Gcg	p.P2770A	NBEA_ENST00000537702.1_Missense_Mutation_p.P563A|NBEA_ENST00000540320.1_Missense_Mutation_p.P2770A|NBEA_ENST00000379939.2_Missense_Mutation_p.P2767A|NBEA_ENST00000310336.4_Missense_Mutation_p.P2770A|NBEA_ENST00000379922.3_Missense_Mutation_p.P348A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2770					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)		AGGTGACTATCCGGCACCAAG	0.483																																																	0													70.0	70.0	70.0					13																	36239230		2034	4200	6234	SO:0001583	missense	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.8308C>G	13.37:g.36239230C>G	ENSP00000383295:p.Pro2770Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_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.P2770A	ENST00000400445.3	37	c.8308	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030847	0.35797	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.216802	0.49305	D	0.000145	T	0.18087	0.0434	N	0.04746	-0.17	0.80722	D	1	B;B;B	0.13145	0.005;0.007;0.002	B;B;B	0.15052	0.01;0.012;0.004	T	0.07424	-1.0773	10	0.20519	T	0.43	.	18.8119	0.92061	0.0:1.0:0.0:0.0	.	2770;348;2767	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	A	2770;2770;2767;2770;1399;348;563;348	ENSP00000440951:P2770A;ENSP00000383295:P2770A;ENSP00000369271:P2767A;ENSP00000308534:P2770A;ENSP00000440233:P563A;ENSP00000369254:P348A	ENSP00000308534:P2770A	P	+	1	0	NBEA	35137230	1.000000	0.71417	0.996000	0.52242	0.466000	0.32739	7.093000	0.76937	2.501000	0.84356	0.655000	0.94253	CCG	NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.483	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		36239230	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	G
NBEAL1	65065	genome.wustl.edu	37	2	203948108	203948108	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:203948108C>G	ENST00000449802.1	+	9	1184	c.851C>G	c.(850-852)tCt>tGt	p.S284C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	284										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGCAACTCTGATCAGCGT	0.428																																																	0													201.0	173.0	181.0					2																	203948108		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.851C>G	2.37:g.203948108C>G	ENSP00000399903:p.Ser284Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S284C	ENST00000449802.1	37	c.851	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551436	0.45487	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.68765	-0.35	5.59	4.71	0.59529	Armadillo-type fold (1);	0.462497	0.21932	N	0.067006	T	0.65217	0.2670	L	0.57536	1.79	0.50039	D	0.999841	B	0.14805	0.011	B	0.16289	0.015	T	0.62632	-0.6813	10	0.51188	T	0.08	.	16.6367	0.85060	0.0:0.87:0.13:0.0	.	284	Q6ZS30	NBEL1_HUMAN	C	284	ENSP00000399903:S284C	ENSP00000344985:S284C	S	+	2	0	NBEAL1	203656353	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.876000	0.63079	1.356000	0.45884	-0.257000	0.10917	TCT	NBEAL1	-	superfamily_ARM-type_fold		0.428	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			203948108	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	G
NBEAL2	23218	genome.wustl.edu	37	3	47033349	47033349	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47033349G>T	ENST00000450053.3	+	9	1124	c.945G>T	c.(943-945)ctG>ctT	p.L315L	NBEAL2_ENST00000292309.5_Silent_p.L315L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	315					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATGATGCTGGCATGTGAAG	0.582																																																	0													43.0	43.0	43.0					3																	47033349		2064	4208	6272	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.945G>T	3.37:g.47033349G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L315	ENST00000450053.3	37	c.945	CCDS46817.1	3																																																																																			NBEAL2	-	superfamily_ARM-type_fold		0.582	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47033349	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	silent	SNP	0.999	T
HAND2	9464	genome.wustl.edu	37	4	174448572	174448572	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:174448572C>T	ENST00000359562.4	-	2	1495				HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'Flank|HAND2-AS1_ENST00000507062.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2						adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AAGAGAAATTCAGAGAGGATA	0.542																																																	0													53.0	57.0	55.0					4																	174448572		2203	4300	6503	SO:0001627	intron_variant	79804			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.556-46G>A	4.37:g.174448572C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B6ECG9|O95300|O95301|P97833|Q494T1	RNA	SNP	-	NULL	ENST00000359562.4	37	NULL	CCDS3819.1	4																																																																																			RP11-471J12.1	-	-		0.542	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBLA00301	Clone_based_vega_gene	protein_coding	OTTHUMT00000362241.3	C			174448572	+1	no_errors	ENST00000512099	ensembl	human	known	70_37	rna	SNP	0.994	T
Unknown	0	genome.wustl.edu	37	1	144615114	144615114	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:144615114C>T								RP11-640M9.2 (9223 upstream) : NBPF9 (196629 downstream)																							TCCACCTCTTCTGCCACAAAC	0.478																																																	0																																										SO:0001628	intergenic_variant	728841																															1.37:g.144615114C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		1																																																																																			NBPF8	-	-	0	0.478					NBPF8	HGNC			C			144615114	+1	no_errors	ENST00000421407	ensembl	human	known	70_37	rna	SNP	0.618	T
NBPF20	100288142	genome.wustl.edu	37	1	148341855	148341855	+	Silent	SNP	G	G	A	rs3977220		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:148341855G>A	ENST00000369202.1	-	6	915	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	NBPF20_ENST00000414710.2_Silent_p.L240L			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	240	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TCTACAACCAGAGTTGAGTTG	0.448																																																	0													4.0	4.0	4.0					1																	148341855		1423	3134	4557	SO:0001819	synonymous_variant	100288142				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.718C>T	1.37:g.148341855G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_NBPF_dom	p.L240	ENST00000369202.1	37	c.718		1																																																																																			NBPF20	-	pfam_NBPF_dom		0.448	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	G			148341855	-1	no_errors	ENST00000369202	ensembl	human	known	70_37	silent	SNP	0.028	A
NCAPD2	9918	genome.wustl.edu	37	12	6638001	6638001	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6638001C>G	ENST00000315579.5	+	26	4255	c.3456C>G	c.(3454-3456)ttC>ttG	p.F1152L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.F1107L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1152					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCAAGAACTTCTTCAATGAGC	0.567																																																	0													68.0	67.0	67.0					12																	6638001		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3456C>G	12.37:g.6638001C>G	ENSP00000325017:p.Phe1152Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.F1152L	ENST00000315579.5	37	c.3456	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743678	0.89663	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.47869	0.83;0.83	5.43	4.47	0.54385	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67624	-0.5623	10	0.87932	D	0	-24.6224	13.6049	0.62041	0.0:0.8762:0.0:0.1238	.	1107;1152	F5GZJ1;Q15021	.;CND1_HUMAN	L	1152;1107	ENSP00000325017:F1152L;ENSP00000444417:F1107L	ENSP00000325017:F1152L	F	+	3	2	NCAPD2	6508262	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.594000	0.36697	2.825000	0.97269	0.655000	0.94253	TTC	NCAPD2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.567	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	C	NM_014865		6638001	+1	no_errors	ENST00000315579	ensembl	human	known	70_37	missense	SNP	1.000	G
NCF4	4689	genome.wustl.edu	37	22	37260991	37260991	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:37260991G>C	ENST00000248899.6	+	3	332	c.148G>C	c.(148-150)Gga>Cga	p.G50R	NCF4_ENST00000397147.4_Missense_Mutation_p.G50R|CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	50	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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 peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GACAAAAGGAGGATCCAAGTA	0.577																																																	0													91.0	74.0	79.0					22																	37260991		2203	4300	6503	SO:0001583	missense	4689			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.148G>C	22.37:g.37260991G>C	ENSP00000248899:p.Gly50Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.G50R	ENST00000248899.6	37	c.148	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	G	18.60	3.660033	0.67586	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	T;T	0.43688	0.94;0.94	5.67	5.67	0.87782	Phox homologous domain (5);	0.106571	0.64402	D	0.000005	T	0.70002	0.3174	M	0.91510	3.215	0.49915	D	0.999831	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.75955	-0.3135	10	0.72032	D	0.01	-19.5029	11.9411	0.52901	0.0802:0.0:0.9198:0.0	.	50;50	A8K4F9;Q15080	.;NCF4_HUMAN	R	50	ENSP00000248899:G50R;ENSP00000380334:G50R	ENSP00000248899:G50R	G	+	1	0	NCF4	35590937	1.000000	0.71417	0.971000	0.41717	0.552000	0.35366	4.534000	0.60622	2.666000	0.90696	0.561000	0.74099	GGA	NCF4	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.577	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	G	NM_000631		37260991	+1	no_errors	ENST00000397147	ensembl	human	known	70_37	missense	SNP	0.996	C
NCL	4691	genome.wustl.edu	37	2	232321788	232321788	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:232321788C>G	ENST00000322723.4	-	10	1735	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	499	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGAGTTTCTTCTGTTGCACTG	0.388																																																	0													120.0	121.0	121.0					2																	232321788		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1495G>C	2.37:g.232321788C>G	ENSP00000318195:p.Glu499Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E499Q	ENST00000322723.4	37	c.1495	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405044	0.83230	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.79845	-1.31;2.01	5.76	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092196	0.85682	D	0.000000	D	0.86393	0.5922	L	0.50919	1.6	0.54753	D	0.999988	D	0.76494	0.999	D	0.77557	0.99	D	0.87023	0.2130	10	0.56958	D	0.05	-31.0286	14.3733	0.66857	0.0:0.9281:0.0:0.0719	.	499	P19338	NUCL_HUMAN	Q	499;391;271;124	ENSP00000318195:E499Q;ENSP00000349410:E124Q	ENSP00000318195:E499Q	E	-	1	0	NCL	232030032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.104000	0.57790	1.420000	0.47138	0.558000	0.71614	GAA	NCL	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.388	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	C	NM_005381		232321788	-1	no_errors	ENST00000322723	ensembl	human	known	70_37	missense	SNP	1.000	G
NCOA2	10499	genome.wustl.edu	37	8	71036975	71036975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:71036975G>A	ENST00000452400.2	-	20	4223	c.4042C>T	c.(4042-4044)Cag>Tag	p.Q1348*	NCOA2_ENST00000267974.4_Nonsense_Mutation_p.Q436*	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1348					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q1348*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGGGCCTGATAGGCTGGG	0.552			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - Nonsense(1)	endometrium(1)											87.0	98.0	94.0					8																	71036975		1994	4177	6171	SO:0001587	stop_gained	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4042C>T	8.37:g.71036975G>A	ENSP00000399968:p.Gln1348*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CD2	Nonsense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.Q1348*	ENST00000452400.2	37	c.4042	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.626305	0.97718	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	.	.	.	5.78	5.78	0.91487	.	0.054647	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0685	0.97708	0.0:0.0:1.0:0.0	.	.	.	.	X	1348;436	.	ENSP00000267974:Q436X	Q	-	1	0	NCOA2	71199529	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.472000	0.97709	2.735000	0.93741	0.650000	0.86243	CAG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator		0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	G			71036975	-1	no_errors	ENST00000452400	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NCOA5	57727	genome.wustl.edu	37	20	44695767	44695767	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:44695767C>T	ENST00000290231.6	-	5	720	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGATTTCCTCAAAATATTGA	0.443																																																	0													114.0	105.0	108.0					20																	44695767		2203	4300	6503	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.556G>A	20.37:g.44695767C>T	ENSP00000290231:p.Glu186Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.E186K	ENST00000290231.6	37	c.556	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.763330	0.96906	.	.	ENSG00000124160	ENST00000290231;ENST00000372291	T	0.50548	0.74	5.4	5.4	0.78164	.	0.141437	0.64402	D	0.000006	T	0.45836	0.1362	L	0.57536	1.79	0.80722	D	1	B;P	0.37330	0.135;0.59	B;B	0.31614	0.121;0.133	T	0.51419	-0.8708	10	0.59425	D	0.04	-12.113	18.3484	0.90329	0.0:1.0:0.0:0.0	.	186;81	Q9HCD5;Q5JY17	NCOA5_HUMAN;.	K	186;81	ENSP00000290231:E186K	ENSP00000290231:E186K	E	-	1	0	NCOA5	44129174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.805000	0.96524	0.655000	0.94253	GAG	NCOA5	-	NULL		0.443	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	C	NM_020967		44695767	-1	no_errors	ENST00000290231	ensembl	human	known	70_37	missense	SNP	1.000	T
NCOR1	9611	genome.wustl.edu	37	17	15978916	15978916	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:15978916C>T	ENST00000268712.3	-	27	3859	c.3602G>A	c.(3601-3603)aGa>aAa	p.R1201K	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1217K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1201	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTTCCTCTCTGCCTTTCTC	0.478																																																	0													234.0	207.0	216.0					17																	15978916		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3602G>A	17.37:g.15978916C>T	ENSP00000268712:p.Arg1201Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1201K	ENST00000268712.3	37	c.3602	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667480	0.67814	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90307	0.6968	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.64830	0.99;0.994;0.994;0.99	D;D;D;D	0.72982	0.979;0.977;0.97;0.979	D	0.90249	0.4292	10	0.72032	D	0.01	-11.9362	19.3193	0.94231	0.0:1.0:0.0:0.0	.	12;1108;1201;1217	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	K	1201;1217;1108	ENSP00000268712:R1201K;ENSP00000379192:R1217K	ENSP00000268712:R1201K	R	-	2	0	NCOR1	15919641	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.298000	0.78815	2.797000	0.96272	0.655000	0.94253	AGA	NCOR1	-	NULL		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	C	NM_006311		15978916	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	T
NDRG3	57446	genome.wustl.edu	37	20	35350135	35350135	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:35350135C>T	ENST00000349004.1	-	2	85	c.4G>A	c.(4-6)Gat>Aat	p.D2N	NDRG3_ENST00000373773.3_5'UTR|NDRG3_ENST00000359675.2_Missense_Mutation_p.D2N|NDRG3_ENST00000540765.1_5'UTR|NDRG3_ENST00000373803.2_Missense_Mutation_p.D2N	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	2					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGAAGTTCATCCATGAGGTCA	0.363																																																	0													88.0	88.0	88.0					20																	35350135		2203	4300	6503	SO:0001583	missense	57446			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.4G>A	20.37:g.35350135C>T	ENSP00000345292:p.Asp2Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.D2N	ENST00000349004.1	37	c.4	CCDS13285.1	20	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106766	0.56291	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675	T;T;T	0.20069	2.17;2.19;2.1	5.07	5.07	0.68467	.	0.294990	0.38959	N	0.001520	T	0.19927	0.0479	L	0.36672	1.1	0.80722	D	1	P;B	0.41848	0.763;0.181	B;B	0.42282	0.382;0.036	T	0.01305	-1.1390	10	0.30854	T	0.27	.	13.8056	0.63230	0.0:1.0:0.0:0.0	.	2;2	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	N	2	ENSP00000345292:D2N;ENSP00000362909:D2N;ENSP00000352703:D2N	ENSP00000345292:D2N	D	-	1	0	NDRG3	34783549	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.894000	0.56250	2.628000	0.89032	0.655000	0.94253	GAT	NDRG3	-	NULL		0.363	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	C			35350135	-1	no_errors	ENST00000349004	ensembl	human	known	70_37	missense	SNP	1.000	T
NDRG4	65009	genome.wustl.edu	37	16	58538089	58538089	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:58538089C>G	ENST00000570248.1	+	3	265	c.159C>G	c.(157-159)ttC>ttG	p.F53L	NDRG4_ENST00000566192.1_Missense_Mutation_p.F53L|NDRG4_ENST00000394279.2_Missense_Mutation_p.F85L|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000568640.1_Missense_Mutation_p.F71L|NDRG4_ENST00000562999.1_Missense_Mutation_p.F53L|NDRG4_ENST00000356752.4_Missense_Mutation_p.F83L|NDRG4_ENST00000394282.4_Missense_Mutation_p.F105L|NDRG4_ENST00000563799.1_Missense_Mutation_p.F71L|NDRG4_ENST00000258187.5_Missense_Mutation_p.F85L|NDRG4_ENST00000563022.1_3'UTR	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	53					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCTTCAACTTCGAGGACATGC	0.577																																																	0													126.0	127.0	127.0					16																	58538089		2198	4300	6498	SO:0001583	missense	65009			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.159C>G	16.37:g.58538089C>G	ENSP00000457659:p.Phe53Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	pfam_Ndr	p.F105L	ENST00000570248.1	37	c.315	CCDS58466.1	16	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970116	0.53614	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.25	-10.5	0.00291	.	0.287781	0.37906	N	0.001891	T	0.15825	0.0381	M	0.80183	2.485	0.28542	N	0.91204	B;B;B;B;B;B;B	0.17268	0.001;0.001;0.0;0.0;0.0;0.021;0.006	B;B;B;B;B;B;B	0.14578	0.001;0.001;0.002;0.0;0.0;0.011;0.011	T	0.07195	-1.0785	10	0.54805	T	0.06	-13.0847	11.4585	0.50195	0.0:0.2183:0.1422:0.6395	.	71;83;71;53;53;105;85	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	L	85;105;85;83	ENSP00000258187:F85L;ENSP00000377823:F105L;ENSP00000377820:F85L;ENSP00000349193:F83L	ENSP00000258187:F85L	F	+	3	2	NDRG4	57095590	0.000000	0.05858	0.485000	0.27403	0.994000	0.84299	-3.528000	0.00441	-2.151000	0.00795	-0.258000	0.10820	TTC	NDRG4	-	pfam_Ndr		0.577	NDRG4-009	KNOWN	basic|CCDS	protein_coding	NDRG4	HGNC	protein_coding	OTTHUMT00000422671.2	C			58538089	+1	no_errors	ENST00000394282	ensembl	human	known	70_37	missense	SNP	0.150	G
NDST2	8509	genome.wustl.edu	37	10	75562434	75562434	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75562434C>T	ENST00000309979.6	-	14	3080	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|NDST2_ENST00000299641.4_Missense_Mutation_p.E719K			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	842	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TTACTTACCTCAGTGTCCATA	0.502																																																	0													69.0	69.0	69.0					10																	75562434		2203	4300	6503	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2524G>A	10.37:g.75562434C>T	ENSP00000310657:p.Glu842Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.E842K	ENST00000309979.6	37	c.2524	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987328	0.35036	.	.	ENSG00000166507	ENST00000309979;ENST00000299641;ENST00000429742	T;T;T	0.56444	0.46;0.46;0.46	6.07	4.2	0.49525	Sulfotransferase domain (1);	0.337643	0.34088	N	0.004272	T	0.38772	0.1053	L	0.38649	1.16	0.36531	D	0.870729	B	0.19445	0.036	B	0.27170	0.077	T	0.32903	-0.9889	10	0.27082	T	0.32	.	4.9341	0.13932	0.2531:0.562:0.1105:0.0744	.	842	P52849	NDST2_HUMAN	K	842;719;123	ENSP00000310657:E842K;ENSP00000299641:E719K;ENSP00000392733:E123K	ENSP00000299641:E719K	E	-	1	0	NDST2	75232440	0.998000	0.40836	0.955000	0.39395	0.976000	0.68499	2.009000	0.40903	0.871000	0.35750	0.655000	0.94253	GAG	NDST2	-	pfam_Sulfotransferase_dom		0.502	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	C	NM_003635		75562434	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	missense	SNP	0.814	T
NDUFA11	126328	genome.wustl.edu	37	19	5894779	5894779	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5894779C>G	ENST00000308961.4	-	4	447	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	NDUFA11_ENST00000418389.2_Intron|AC024592.12_ENST00000586349.1_Intron|FUT5_ENST00000252675.5_Intron|NDUFA11_ENST00000592634.1_3'UTR	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	134					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(1)	2						GCAAACACCTCCCAGCCCTCC	0.607																																																	0													31.0	28.0	29.0					19																	5894779		2203	4299	6502	SO:0001583	missense	126328			AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"""Mitochondrial respiratory chain complex / Complex I"""	20371	protein-coding gene	gene with protein product	"""complex I B14.7 subunit"""	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.400G>C	19.37:g.5894779C>G	ENSP00000311740:p.Glu134Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JT23|Q6ZS66	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.E134Q	ENST00000308961.4	37	c.400	CCDS12155.1	19	.	.	.	.	.	.	.	.	.	.	C	8.011	0.757533	0.15846	.	.	ENSG00000174886	ENST00000308961	.	.	.	4.09	-8.18	0.01053	.	0.657176	0.14894	N	0.292190	T	0.09686	0.0238	N	0.02539	-0.55	0.09310	N	0.99999	B	0.14438	0.01	B	0.06405	0.002	T	0.24476	-1.0159	9	0.18276	T	0.48	.	7.4963	0.27492	0.0:0.1658:0.4256:0.4085	.	134	Q86Y39	NDUAB_HUMAN	Q	134	.	ENSP00000311740:E134Q	E	-	1	0	NDUFA11	5845779	0.001000	0.12720	0.020000	0.16555	0.008000	0.06430	-0.804000	0.04535	-1.751000	0.01326	-0.802000	0.03209	GAG	NDUFA11	-	NULL		0.607	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA11	HGNC	protein_coding	OTTHUMT00000452218.1	C	NM_175614		5894779	-1	no_errors	ENST00000308961	ensembl	human	known	70_37	missense	SNP	0.020	G
NDUFS2	4720	genome.wustl.edu	37	1	161179399	161179399	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:161179399G>A	ENST00000367993.3	+	6	1075				NDUFS2_ENST00000476409.2_Intron|NDUFS2_ENST00000392179.4_Intron	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	agagtgggaggaaaggatagg	0.478											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35.0	31.0	32.0					1																	161179399		2203	4300	6503	SO:0001627	intron_variant	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.627+14G>A	1.37:g.161179399G>A		Somatic	1814	WXS	Illumina HiSeq	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	RNA	SNP	-	NULL	ENST00000367993.3	37	NULL	CCDS1224.1	1																																																																																			NDUFS2	-	-		0.478	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	G	NM_004550		161179399	+1	no_errors	ENST00000473321	ensembl	human	known	70_37	rna	SNP	0.000	A
NEK9	91754	genome.wustl.edu	37	14	75567840	75567840	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:75567840C>T	ENST00000238616.5	-	16	2015	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	619					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGCCAAAGGTCAGCAGCCGGC	0.532																																																	0													33.0	34.0	34.0					14																	75567840		2203	4300	6503	SO:0001819	synonymous_variant	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1857G>A	14.37:g.75567840C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L619	ENST00000238616.5	37	c.1857	CCDS9839.1	14																																																																																			NEK9	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.532	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	C	NM_033116		75567840	-1	no_errors	ENST00000238616	ensembl	human	known	70_37	silent	SNP	0.999	T
NSMF	26012	genome.wustl.edu	37	9	140347279	140347279	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:140347279G>A	ENST00000371475.3	-	10	1279				NSMF_ENST00000371473.3_Intron|NSMF_ENST00000371482.1_Missense_Mutation_p.S11F|NSMF_ENST00000392812.4_Intron|NSMF_ENST00000339554.3_Intron|NSMF_ENST00000371472.2_Intron|NSMF_ENST00000541195.1_Intron|NSMF_ENST00000265663.7_Intron|NSMF_ENST00000371474.3_Intron|NSMF_ENST00000437259.1_Intron|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371468.1_Intron	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor						cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										GAGCTGCGGAGACAAAGAGCT	0.612																																																	0													37.0	36.0	36.0					9																	140347279		2181	4285	6466	SO:0001627	intron_variant	26012				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1048-8C>T	9.37:g.140347279G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	NULL	p.S11F	ENST00000371475.3	37	c.32	CCDS48069.1	9	.	.	.	.	.	.	.	.	.	.	G	9.095	1.002607	0.19121	.	.	ENSG00000165802	ENST00000371482	T	0.47528	0.84	4.28	2.37	0.29283	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	.	.	.	.	12.5476	0.56208	0.0:0.2448:0.7552:0.0	.	.	.	.	F	11	ENSP00000360537:S11F	.	S	-	2	0	NELF	139467100	0.029000	0.19370	0.000000	0.03702	0.174000	0.22865	0.386000	0.20702	0.406000	0.25560	0.305000	0.20034	TCT	NELF	-	NULL		0.612	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELF	HGNC	protein_coding		G	NM_015537		140347279	-1	no_errors	ENST00000371482	ensembl	human	known	70_37	missense	SNP	0.000	A
NELL2	4753	genome.wustl.edu	37	12	44915918	44915918	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:44915918C>T	ENST00000429094.2	-	18	2544	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	NELL2_ENST00000551601.1_Silent_p.E632E|NELL2_ENST00000549027.1_Silent_p.E679E|NELL2_ENST00000395487.2_Silent_p.E679E|NELL2_ENST00000437801.2_Silent_p.E730E|NELL2_ENST00000333837.4_Silent_p.E703E|NELL2_ENST00000452445.2_Silent_p.E680E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	680	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTGTGGGATTCTCACAGTCAC	0.423																																																	0													119.0	108.0	112.0					12																	44915918		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2040G>A	12.37:g.44915918C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.E730	ENST00000429094.2	37	c.2190	CCDS8746.1	12																																																																																			NELL2	-	smart_VWF_C,pfscan_VWF_C		0.423	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	C	NM_006159		44915918	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	silent	SNP	1.000	T
NEMF	9147	genome.wustl.edu	37	14	50312951	50312951	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:50312951G>C	ENST00000298310.5	-	4	713	c.264C>G	c.(262-264)gtC>gtG	p.V88V	AL627171.1_ENST00000358799.1_5'Flank|NEMF_ENST00000546046.1_Silent_p.V88V|NEMF_ENST00000545773.1_Intron|NEMF_ENST00000556672.1_Silent_p.V88V			O60524	NEMF_HUMAN	nuclear export mediator factor	88					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTTTTGCACTGACTAATCTCC	0.353																																																	0													107.0	102.0	104.0					14																	50312951		2203	4300	6503	SO:0001819	synonymous_variant	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.264C>G	14.37:g.50312951G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.V88	ENST00000298310.5	37	c.264	CCDS9694.1	14																																																																																			NEMF	-	pfam_Fibro-bd_N		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	G	NM_004713		50312951	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	silent	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69681372	69681372	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69681372G>A	ENST00000354436.2	+	3	959	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	NFAT5_ENST00000566899.1_Missense_Mutation_p.R138Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.R232Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.R138Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.R232Q|NFAT5_ENST00000349945.1_Missense_Mutation_p.R138Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	214					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						GGGGTCAAACGACGAGATTGT	0.448																																																	0													66.0	67.0	66.0					16																	69681372		2198	4300	6498	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.641G>A	16.37:g.69681372G>A	ENSP00000346420:p.Arg214Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.R232Q	ENST00000354436.2	37	c.695	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496888	0.64186	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46819	0.86;0.86;0.87;0.86	5.56	5.56	0.83823	.	0.215770	0.41712	D	0.000838	T	0.48352	0.1495	N	0.19112	0.55	0.45554	D	0.998509	D;D;D	0.76494	0.995;0.995;0.999	P;P;P	0.55785	0.784;0.784;0.637	T	0.32981	-0.9886	10	0.20519	T	0.43	-2.5432	19.5215	0.95187	0.0:0.0:1.0:0.0	.	232;214;232	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	Q	232;232;138;214;138	ENSP00000396538:R232Q;ENSP00000338806:R138Q;ENSP00000346420:R214Q;ENSP00000377343:R138Q	ENSP00000338806:R138Q	R	+	2	0	NFAT5	68238873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.958000	0.56737	2.597000	0.87782	0.650000	0.86243	CGA	NFAT5	-	NULL		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	G	NM_138714		69681372	+1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	A
NFATC2	4773	genome.wustl.edu	37	20	50179163	50179163	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:50179163C>T	ENST00000414705.1	-	1	5	c.6G>A	c.(4-6)caG>caA	p.Q2Q	NFATC2_ENST00000609943.1_Silent_p.Q2Q|NFATC2_ENST00000609507.1_5'UTR			Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	0					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 negative regulation of transcription (GO:0001078)|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)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCCTCTCTCTGCATCTGGA	0.612																																																	0													98.0	108.0	105.0					20																	50179163		692	1591	2283	SO:0001819	synonymous_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000414705.1:c.6G>A	20.37:g.50179163C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.Q2	ENST00000414705.1	37	c.6	CCDS46614.1	20																																																																																			NFATC2	-	NULL		0.612	NFATC2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000472015.1	C	NM_012340		50179163	-1	no_errors	ENST00000414705	ensembl	human	known	70_37	silent	SNP	1.000	T
NFATC3	4775	genome.wustl.edu	37	16	68224713	68224713	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:68224713C>G	ENST00000346183.3	+	9	2165	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Nonsense_Mutation_p.S714*|NFATC3_ENST00000575270.1_Nonsense_Mutation_p.S714*|NFATC3_ENST00000349223.5_Nonsense_Mutation_p.S714*|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	714					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATTTGTCTTCAGTTCCATCT	0.383																																																	0													105.0	98.0	100.0					16																	68224713		2198	4300	6498	SO:0001587	stop_gained	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2141C>G	16.37:g.68224713C>G	ENSP00000300659:p.Ser714*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S714*	ENST00000346183.3	37	c.2141	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.118876	0.94385	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	.	.	.	5.55	5.55	0.83447	.	0.473004	0.21810	N	0.068793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-8.8507	14.359	0.66757	0.148:0.852:0.0:0.0	.	.	.	.	X	714;714;714;235	.	ENSP00000331324:S714X	S	+	2	0	NFATC3	66782214	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.439000	0.66556	2.617000	0.88574	0.557000	0.71058	TCA	NFATC3	-	NULL		0.383	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68224713	+1	no_errors	ENST00000346183	ensembl	human	known	70_37	nonsense	SNP	1.000	G
NFIA	4774	genome.wustl.edu	37	1	61554147	61554147	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:61554147C>A	ENST00000403491.3	+	2	838	c.354C>A	c.(352-354)gaC>gaA	p.D118E	NFIA_ENST00000371185.2_Missense_Mutation_p.D118E|NFIA_ENST00000371189.4_Missense_Mutation_p.D163E|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.D118E|NFIA_ENST00000371191.1_Missense_Mutation_p.D141E|NFIA_ENST00000371184.2_Missense_Mutation_p.D118E|NFIA_ENST00000371187.3_Missense_Mutation_p.D118E|NFIA_ENST00000407417.3_Missense_Mutation_p.D110E	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	118					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GAAGAATTGACTGCCTCCGCC	0.453																																																	0													114.0	122.0	119.0					1																	61554147		2203	4300	6503	SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.354C>A	1.37:g.61554147C>A	ENSP00000384523:p.Asp118Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.D163E	ENST00000403491.3	37	c.489	CCDS44156.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689312	0.88735	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.87	5.87	0.94306	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88629	0.6488	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.67145	0.996;0.992;0.992;0.972	D;D;D;D	0.76071	0.987;0.983;0.983;0.971	D	0.88777	0.3268	10	0.87932	D	0	-12.0605	20.2032	0.98269	0.0:1.0:0.0:0.0	.	163;141;118;118	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	E	141;110;163;118;118;118;118;118	ENSP00000360233:D141E;ENSP00000384680:D110E;ENSP00000360231:D163E;ENSP00000384523:D118E;ENSP00000419785:D118E;ENSP00000360227:D118E;ENSP00000360226:D118E;ENSP00000360229:D118E	ENSP00000360226:D118E	D	+	3	2	NFIA	61326735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.070000	0.71220	2.785000	0.95823	0.650000	0.86243	GAC	NFIA	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom		0.453	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	C	NM_005595		61554147	+1	no_errors	ENST00000371189	ensembl	human	known	70_37	missense	SNP	1.000	A
NFIA	4774	genome.wustl.edu	37	1	61554153	61554154	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:61554153_61554154CC>TT	ENST00000403491.3	+	2	844_845	c.360_361CC>TT	c.(358-363)ctCCgc>ctTTgc	p.R121C	NFIA_ENST00000371185.2_Missense_Mutation_p.R121C|NFIA_ENST00000371189.4_Missense_Mutation_p.R166C|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.R121C|NFIA_ENST00000371191.1_Missense_Mutation_p.R144C|NFIA_ENST00000371184.2_Missense_Mutation_p.R121C|NFIA_ENST00000371187.3_Missense_Mutation_p.R121C|NFIA_ENST00000407417.3_Missense_Mutation_p.R113C	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	121					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTGACTGCCTCCGCCAGGCAGA	0.46																																																	0																																										SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	Exception_encountered	1.37:g.61554153_61554154delinsTT	ENSP00000384523:p.Arg121Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Silent|Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.L165|p.R166C	ENST00000403491.3	37	c.495|c.496	CCDS44156.1	1																																																																																			NFIA	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom		0.460	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	C	NM_005595		61554153|61554154	+1	no_errors	ENST00000371189	ensembl	human	known	70_37	silent|missense	SNP	0.997|1.000	T
NFKBID	84807	genome.wustl.edu	37	19	36380797	36380797	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36380797C>T	ENST00000396901.1	-	11	1456	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NFKBID_ENST00000352614.2_Missense_Mutation_p.E447K|NFKBID_ENST00000606253.1_Missense_Mutation_p.E295K|NFKBID_ENST00000340950.2_Missense_Mutation_p.E132K	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	295					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTTACCCCCTCAGGGCCCGGC	0.672																																																	0													35.0	42.0	40.0					19																	36380797		1967	4114	6081	SO:0001583	missense	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.883G>A	19.37:g.36380797C>T	ENSP00000380109:p.Glu295Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NI39|Q9BRG9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E447K	ENST00000396901.1	37	c.1339	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595270	0.86953	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	T;T;T	0.57436	0.4;1.08;1.08	3.81	3.81	0.43845	.	0.145674	0.45126	D	0.000396	T	0.55114	0.1900	L	0.27053	0.805	0.47659	D	0.999488	P;D;D	0.63880	0.932;0.97;0.993	P;P;P	0.60789	0.558;0.607;0.879	T	0.58205	-0.7677	10	0.51188	T	0.08	-12.2539	13.5639	0.61806	0.0:1.0:0.0:0.0	.	447;295;132	Q8NI38-2;Q8NI38;Q8NI38-3	.;IKBD_HUMAN;.	K	447;295;132	ENSP00000252985:E447K;ENSP00000380109:E295K;ENSP00000343093:E132K	ENSP00000343093:E132K	E	-	1	0	NFKBID	41072637	0.260000	0.24053	0.957000	0.39632	0.724000	0.41520	0.984000	0.29565	2.117000	0.64856	0.305000	0.20034	GAG	NFKBID	-	NULL		0.672	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	C	NM_032721		36380797	-1	no_errors	ENST00000352614	ensembl	human	known	70_37	missense	SNP	0.996	T
NHLRC1	378884	genome.wustl.edu	37	6	18121697	18121697	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:18121697C>T	ENST00000340650.3	-	1	1154	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	381					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GATGCTGTGTCCAGCACAAGA	0.478																																																	0													55.0	58.0	57.0					6																	18121697		2203	4300	6503	SO:0001583	missense	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.1141G>A	6.37:g.18121697C>T	ENSP00000345464:p.Asp381Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING	p.D381N	ENST00000340650.3	37	c.1141	CCDS4542.1	6	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983154	0.93044	.	.	ENSG00000187566	ENST00000340650	D	0.91407	-2.84	5.76	5.76	0.90799	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	M	0.83223	2.63	0.50813	D	0.99989	D	0.89917	1.0	D	0.91635	0.999	D	0.95155	0.8276	10	0.62326	D	0.03	-26.6451	19.9857	0.97347	0.0:1.0:0.0:0.0	.	381	Q6VVB1	NHLC1_HUMAN	N	381	ENSP00000345464:D381N	ENSP00000345464:D381N	D	-	1	0	NHLRC1	18229676	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.064000	0.76721	2.706000	0.92434	0.655000	0.94253	GAC	NHLRC1	-	pfscan_NHL_repeat_subgr		0.478	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC1	HGNC	protein_coding	OTTHUMT00000039958.1	C			18121697	-1	no_errors	ENST00000340650	ensembl	human	known	70_37	missense	SNP	1.000	T
NINL	22981	genome.wustl.edu	37	20	25459789	25459789	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:25459789C>T	ENST00000278886.6	-	16	2044	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	NINL_ENST00000422516.1_Silent_p.E657E	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	657					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGTCCTTCCTCTCCTTCTCAA	0.542																																																	0													88.0	84.0	85.0					20																	25459789		2203	4300	6503	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1971G>A	20.37:g.25459789C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E657	ENST00000278886.6	37	c.1971	CCDS33452.1	20																																																																																			NINL	-	NULL		0.542	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25459789	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	silent	SNP	0.988	T
NKX2-6	137814	genome.wustl.edu	37	8	23560158	23560158	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:23560158C>G	ENST00000325017.3	-	2	711	c.712G>C	c.(712-714)Gtg>Ctg	p.V238L	NKX2-6_ENST00000418222.1_Missense_Mutation_p.V156L	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	238					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAGGGCGACACTGCTGCACTG	0.726																																																	0													12.0	15.0	14.0					8																	23560158		692	1591	2283	SO:0001583	missense	137814			CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.712G>C	8.37:g.23560158C>G	ENSP00000320089:p.Val238Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.V156L	ENST00000325017.3	37	c.466		8	.	.	.	.	.	.	.	.	.	.	C	9.059	0.993985	0.19043	.	.	ENSG00000180053	ENST00000325017;ENST00000418222	D;D	0.89196	-2.26;-2.48	3.36	1.26	0.21427	.	1.317390	0.05583	N	0.573291	T	0.77184	0.4093	N	0.11064	0.09	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.61217	-0.7107	10	0.10902	T	0.67	.	9.5281	0.39175	0.3666:0.6334:0.0:0.0	.	238	A6NCS4	NKX26_HUMAN	L	238;156	ENSP00000320089:V238L;ENSP00000402231:V156L	ENSP00000320089:V238L	V	-	1	0	NKX2-6	23616103	0.000000	0.05858	0.001000	0.08648	0.077000	0.17291	0.307000	0.19296	0.711000	0.32018	0.313000	0.20887	GTG	NKX2-6	-	NULL		0.726	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	NKX2-6	HGNC	protein_coding	OTTHUMT00000376057.4	C	NM_001136271		23560158	-1	no_errors	ENST00000418222	ensembl	human	known	70_37	missense	SNP	0.001	G
NLN	57486	genome.wustl.edu	37	5	65084259	65084259	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:65084259G>A	ENST00000380985.5	+	8	1451	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	NLN_ENST00000502464.1_Missense_Mutation_p.D321N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	425						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TACTGTGAAGGATAAAGCTAC	0.433																																																	0													192.0	191.0	192.0					5																	65084259		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1273G>A	5.37:g.65084259G>A	ENSP00000370372:p.Asp425Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.D425N	ENST00000380985.5	37	c.1273	CCDS3989.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.417555|5.417555	0.96092|0.96092	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.15718|.	2.4;2.4;2.4|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Metallopeptidase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75265|0.75265	0.3826|0.3826	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.70350|0.70350	-0.4896|-0.4896	10|5	0.66056|.	D|.	0.02|.	-23.7146|-23.7146	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	120;425;425|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	N|E	425;321;425;153|21	ENSP00000370372:D425N;ENSP00000423214:D321N;ENSP00000427417:D153N|.	ENSP00000339283:D425N|.	D|G	+|+	1|2	0|0	NLN|NLN	65120015|65120015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	9.476000|9.476000	0.97823|0.97823	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|GGA	NLN	-	pfam_Pept_M3A_M3B		0.433	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65084259	+1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	1.000	A
NLRC3	197358	genome.wustl.edu	37	16	3602271	3602271	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3602271C>T	ENST00000301749.7	-	0	2682				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGATGCTGTTCTTCTGCAGGC	0.547																																																	0													68.0	64.0	65.0					16																	3602271		1917	4144	6061			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3602271C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.K806	ENST00000301749.7	37	c.2418		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.547	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3602271	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	silent	SNP	0.999	T
NLRP11	204801	genome.wustl.edu	37	19	56307519	56307519	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:56307519G>A	ENST00000589093.1	-	6	2362	c.2269C>T	c.(2269-2271)Ccg>Tcg	p.P757S	NLRP11_ENST00000443188.1_Missense_Mutation_p.P757S|NLRP11_ENST00000360133.3_Missense_Mutation_p.P703S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P658S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P703S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	757							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCCTCAGCGGATTGCTGGAT	0.498																																																	0													188.0	165.0	173.0					19																	56307519		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2269C>T	19.37:g.56307519G>A	ENSP00000466285:p.Pro757Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P757S	ENST00000589093.1	37	c.2269	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	0.731	-0.779911	0.02929	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.12774	2.65;2.65	2.58	0.134	0.14771	.	.	.	.	.	T	0.10594	0.0259	L	0.37850	1.14	0.09310	N	1	B;P	0.36222	0.409;0.544	B;B	0.40825	0.254;0.341	T	0.30765	-0.9967	9	0.08179	T	0.78	.	8.1529	0.31152	0.0:0.4935:0.5065:0.0	.	757;703	P59045;P59045-2	NAL11_HUMAN;.	S	757;703	ENSP00000409898:P757S;ENSP00000353251:P703S	ENSP00000353251:P703S	P	-	1	0	NLRP11	60999331	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.163000	0.09997	0.115000	0.18071	0.609000	0.83330	CCG	NLRP11	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	G	NM_145007		56307519	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	missense	SNP	0.000	A
NLRP6	171389	genome.wustl.edu	37	11	281517	281517	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:281517G>C	ENST00000312165.5	+	4	1783	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	NLRP6_ENST00000534750.1_Missense_Mutation_p.E595Q	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	595					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGGTGACCGAGGGGGCCAA	0.647																																																	0													39.0	47.0	45.0					11																	281517		2202	4300	6502	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1783G>C	11.37:g.281517G>C	ENSP00000309767:p.Glu595Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E595Q	ENST00000312165.5	37	c.1783	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	1.610	-0.524194	0.04141	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.76448	-1.02;-0.98	3.22	-2.74	0.05932	.	1.806800	0.03612	N	0.234996	T	0.59059	0.2166	L	0.36672	1.1	0.09310	N	1	P;P	0.39551	0.678;0.649	B;B	0.32624	0.065;0.149	T	0.49744	-0.8907	10	0.06757	T	0.87	.	5.1192	0.14851	0.2758:0.2827:0.4415:0.0	.	595;595	E9PJZ8;P59044	.;NALP6_HUMAN	Q	595	ENSP00000433617:E595Q;ENSP00000309767:E595Q	ENSP00000309767:E595Q	E	+	1	0	NLRP6	271517	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.649000	0.05384	-0.586000	0.05898	0.462000	0.41574	GAG	NLRP6	-	NULL		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281517	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.000	C
NLRP6	171389	genome.wustl.edu	37	11	281661	281661	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:281661G>A	ENST00000312165.5	+	4	1927	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	NLRP6_ENST00000534750.1_Missense_Mutation_p.E643K	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	643					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGGTTCCCGGAGCTGGCGCT	0.647																																																	0													85.0	94.0	91.0					11																	281661		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1927G>A	11.37:g.281661G>A	ENSP00000309767:p.Glu643Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E643K	ENST00000312165.5	37	c.1927	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.554010	0.00918	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.53640	0.61;0.61	2.93	0.89	0.19218	.	0.626643	0.13135	N	0.411160	T	0.54319	0.1851	L	0.45698	1.435	0.09310	N	1	D;D	0.65815	0.995;0.993	P;D	0.70935	0.9;0.971	T	0.45483	-0.9258	10	0.21540	T	0.41	.	8.6931	0.34278	0.0:0.465:0.535:0.0	.	643;643	E9PJZ8;P59044	.;NALP6_HUMAN	K	643	ENSP00000433617:E643K;ENSP00000309767:E643K	ENSP00000309767:E643K	E	+	1	0	NLRP6	271661	0.038000	0.19896	0.003000	0.11579	0.007000	0.05969	1.459000	0.35234	0.243000	0.21327	-0.371000	0.07208	GAG	NLRP6	-	NULL		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281661	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.001	A
NLRP9	338321	genome.wustl.edu	37	19	56226588	56226588	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:56226588C>G	ENST00000332836.2	-	6	2361	c.2334G>C	c.(2332-2334)ttG>ttC	p.L778F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	778						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCAGTACATCAACCTGCAAA	0.527																																																	0													103.0	81.0	88.0					19																	56226588		2201	4294	6495	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2334G>C	19.37:g.56226588C>G	ENSP00000331857:p.Leu778Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L778F	ENST00000332836.2	37	c.2334	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	c	6.918	0.538976	0.13250	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73789	-0.78	2.54	-2.62	0.06152	.	.	.	.	.	T	0.74527	0.3728	M	0.78456	2.415	0.09310	N	1	P	0.42556	0.783	P	0.46172	0.506	T	0.67616	-0.5625	9	0.87932	D	0	.	6.4733	0.22020	0.0:0.386:0.0:0.614	.	778	Q7RTR0	NALP9_HUMAN	F	778	ENSP00000331857:L778F	ENSP00000331857:L778F	L	-	3	2	NLRP9	60918400	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.625000	0.05534	-0.439000	0.07222	-0.176000	0.13171	TTG	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.527	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56226588	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	G
NMNAT3	349565	genome.wustl.edu	37	3	139280016	139280016	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:139280016C>G	ENST00000296202.7	-	6	976	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	NMNAT3_ENST00000339837.5_Missense_Mutation_p.E162Q|NMNAT3_ENST00000511444.1_3'UTR|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Missense_Mutation_p.E162Q|NMNAT3_ENST00000406824.1_Missense_Mutation_p.E89Q|NMNAT3_ENST00000413939.2_Missense_Mutation_p.E110Q			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	199					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GCACTGATCTCATTCTGCACA	0.547																																																	0													190.0	144.0	160.0					3																	139280016		2203	4300	6503	SO:0001583	missense	349565			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.595G>C	3.37:g.139280016C>G	ENSP00000296202:p.Glu199Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase	p.E199Q	ENST00000296202.7	37	c.595		3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950342	0.92660	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202	D;D;D;D;D	0.97888	-4.16;-4.59;-4.16;-4.59;-4.16	5.52	5.52	0.82312	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.531771	0.21527	N	0.073102	D	0.97892	0.9307	L	0.59912	1.85	0.54753	D	0.999982	D;D	0.62365	0.979;0.991	P;P	0.57502	0.713;0.822	D	0.97734	1.0204	10	0.40728	T	0.16	-22.9213	18.4336	0.90636	0.0:1.0:0.0:0.0	.	110;199	B3KVR6;Q96T66	.;NMNA3_HUMAN	Q	162;89;162;110;199	ENSP00000384319:E162Q;ENSP00000384684:E89Q;ENSP00000340523:E162Q;ENSP00000412953:E110Q;ENSP00000296202:E199Q	ENSP00000296202:E199Q	E	-	1	0	NMNAT3	140762706	1.000000	0.71417	0.915000	0.36163	0.945000	0.59286	5.784000	0.68990	2.586000	0.87340	0.655000	0.94253	GAG	NMNAT3	-	pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase		0.547	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	NMNAT3	HGNC	protein_coding	OTTHUMT00000358469.1	C	NM_178177		139280016	-1	no_errors	ENST00000296202	ensembl	human	known	70_37	missense	SNP	0.997	G
NMRAL1	57407	genome.wustl.edu	37	16	4511898	4511898	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4511898G>A	ENST00000574733.1	-	6	1512	c.783C>T	c.(781-783)ttC>ttT	p.F261F	NMRAL1_ENST00000572391.1_5'Flank|NMRAL1_ENST00000574425.1_Silent_p.F261F|NMRAL1_ENST00000404295.3_Silent_p.F261F|NMRAL1_ENST00000283429.6_Silent_p.F261F			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	261						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CATAGAAACGGAACATGTTGG	0.612																																																	0													149.0	146.0	147.0					16																	4511898		2197	4300	6497	SO:0001819	synonymous_variant	57407			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.783C>T	16.37:g.4511898G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N	p.F261	ENST00000574733.1	37	c.783	CCDS10516.1	16																																																																																			NMRAL1	-	NULL		0.612	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMRAL1	HGNC	protein_coding	OTTHUMT00000438579.1	G	NM_020677		4511898	-1	no_errors	ENST00000283429	ensembl	human	known	70_37	silent	SNP	1.000	A
NOA1	84273	genome.wustl.edu	37	4	57829628	57829628	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:57829628C>G	ENST00000264230.4	-	7	3322	c.2085G>C	c.(2083-2085)aaG>aaC	p.K695N	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	695					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										ATACATTTATCTTTCCTTTCT	0.343																																																	0													145.0	141.0	142.0					4																	57829628		2203	4300	6503	SO:0001583	missense	84273			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.2085G>C	4.37:g.57829628C>G	ENSP00000264230:p.Lys695Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.K695N	ENST00000264230.4	37	c.2085	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859304	0.17178	.	.	ENSG00000084092	ENST00000264230	T	0.31769	1.48	2.81	0.0867	0.14447	.	4.267160	0.01047	N	0.004400	T	0.25827	0.0629	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.26950	-1.0088	10	0.72032	D	0.01	.	5.1793	0.15152	0.0:0.574:0.1608:0.2652	.	695	Q8NC60	CD014_HUMAN	N	695	ENSP00000264230:K695N	ENSP00000264230:K695N	K	-	3	2	C4orf14	57524385	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.221000	0.09202	-0.022000	0.13986	0.655000	0.94253	AAG	NOA1	-	NULL		0.343	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	C	NM_032313		57829628	-1	no_errors	ENST00000264230	ensembl	human	known	70_37	missense	SNP	0.000	G
NOM1	64434	genome.wustl.edu	37	7	156755773	156755773	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:156755773G>C	ENST00000275820.3	+	6	1830	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	605						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTGCGGAGCAGACGGGTCGCT	0.597																																																	0													52.0	47.0	49.0					7																	156755773		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1815G>C	7.37:g.156755773G>C	ENSP00000275820:p.Gln605His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.Q605H	ENST00000275820.3	37	c.1815	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257069	0.22965	.	.	ENSG00000146909	ENST00000275820	T	0.12255	2.7	4.64	0.676	0.17958	.	0.427798	0.26470	N	0.024181	T	0.10252	0.0251	L	0.47716	1.5	0.35233	D	0.777077	B	0.16166	0.016	B	0.13407	0.009	T	0.14227	-1.0480	10	0.33940	T	0.23	-19.3673	5.3962	0.16271	0.2943:0.136:0.5697:0.0	.	605	Q5C9Z4	NOM1_HUMAN	H	605	ENSP00000275820:Q605H	ENSP00000275820:Q605H	Q	+	3	2	NOM1	156448534	1.000000	0.71417	0.015000	0.15790	0.655000	0.38815	0.939000	0.28978	-0.082000	0.12640	0.555000	0.69702	CAG	NOM1	-	NULL		0.597	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	G	NM_138400		156755773	+1	no_errors	ENST00000275820	ensembl	human	known	70_37	missense	SNP	0.605	C
NOM1	64434	genome.wustl.edu	37	7	156759087	156759087	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:156759087G>C	ENST00000275820.3	+	8	2172	c.2157G>C	c.(2155-2157)agG>agC	p.R719S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	719	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AATATGAAAGGAGATTTCAGG	0.453																																																	0													147.0	128.0	134.0					7																	156759087		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2157G>C	7.37:g.156759087G>C	ENSP00000275820:p.Arg719Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.R719S	ENST00000275820.3	37	c.2157	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286945	0.59867	.	.	ENSG00000146909	ENST00000275820	T	0.28454	1.61	4.91	3.1	0.35709	Initiation factor eIF-4 gamma, MA3 (3);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46484	-0.9188	10	0.51188	T	0.08	-34.184	9.342	0.38085	0.2553:0.0:0.7447:0.0	.	719	Q5C9Z4	NOM1_HUMAN	S	719	ENSP00000275820:R719S	ENSP00000275820:R719S	R	+	3	2	NOM1	156451848	0.829000	0.29322	0.291000	0.24904	0.943000	0.58893	0.145000	0.16157	0.478000	0.27488	0.655000	0.94253	AGG	NOM1	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.453	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	G	NM_138400		156759087	+1	no_errors	ENST00000275820	ensembl	human	known	70_37	missense	SNP	1.000	C
NOP10	55505	genome.wustl.edu	37	15	34634298	34634298	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:34634298C>G	ENST00000328848.4	-	2	169	c.66G>C	c.(64-66)ccG>ccC	p.P22P	NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Intron|NUTM1_ENST00000438749.3_5'Flank	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	22					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)			lung(1)|ovary(1)	2						GTTGTCCCATCGGGTCAAATT	0.498																																																	0													111.0	93.0	99.0					15																	34634298		2201	4298	6499	SO:0001819	synonymous_variant	55505			AB043103	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117			14378	protein-coding gene	gene with protein product	"""homolog of yeast Nop10p"""	606471	"""nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)"", ""NOP10 ribonucleoprotein homolog (yeast)"""	NOLA3		11074001, 9843512	Standard	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	Q9NPE3	OTTHUMG00000129440	ENST00000328848.4:c.66G>C	15.37:g.34634298C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_H/ACA_rnp_Nop10	p.P22	ENST00000328848.4	37	c.66	CCDS10037.1	15																																																																																			NOP10	-	pfam_H/ACA_rnp_Nop10		0.498	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP10	HGNC	protein_coding	OTTHUMT00000251602.2	C	NM_018648		34634298	-1	no_errors	ENST00000328848	ensembl	human	known	70_37	silent	SNP	0.000	G
NOS3	4846	genome.wustl.edu	37	7	150709545	150709545	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150709545G>A	ENST00000297494.3	+	24	3448	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	ATG9B_ENST00000377974.2_3'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.D825N|ATG9B_ENST00000444312.1_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCTGCATGACATTGAGAG	0.607											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30.0	30.0	30.0					7																	150709545		2203	4300	6503	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3091G>A	7.37:g.150709545G>A	ENSP00000297494:p.Asp1031Asn	Somatic	1734	WXS	Illumina HiSeq	Phase_IV	Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D1031N	ENST00000297494.3	37	c.3091	CCDS5912.1	7	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613564	0.87359	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.87412	-2.25;-2.25	4.81	4.81	0.61882	Oxidoreductase FAD/NAD(P)-binding (1);	0.083890	0.49916	D	0.000138	D	0.88603	0.6481	L	0.47078	1.49	0.80722	D	1	P;B	0.40000	0.698;0.267	P;B	0.50934	0.654;0.344	D	0.88832	0.3306	10	0.52906	T	0.07	-18.3237	15.4556	0.75311	0.0:0.0:1.0:0.0	.	825;1031	E7ESA7;P29474	.;NOS3_HUMAN	N	1031;825	ENSP00000297494:D1031N;ENSP00000417143:D825N	ENSP00000297494:D1031N	D	+	1	0	NOS3	150340478	1.000000	0.71417	0.959000	0.39883	0.950000	0.60333	4.671000	0.61590	2.492000	0.84095	0.655000	0.94253	GAC	NOS3	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met		0.607	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150709545	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	0.997	A
NOSTRIN	115677	genome.wustl.edu	37	2	169699594	169699594	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:169699594G>A	ENST00000317647.7	+	8	826	c.597G>A	c.(595-597)ctG>ctA	p.L199L	NOSTRIN_ENST00000421711.2_Silent_p.L171L|NOSTRIN_ENST00000397206.2_Silent_p.L121L|NOSTRIN_ENST00000444448.2_Silent_p.L199L|NOSTRIN_ENST00000445023.2_Silent_p.L121L|NOSTRIN_ENST00000458381.2_Silent_p.L199L|NOSTRIN_ENST00000397209.2_Silent_p.L171L	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	199					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTACCAGACTGAAATGGGAAA	0.363																																																	0													76.0	70.0	72.0					2																	169699594		1826	4081	5907	SO:0001819	synonymous_variant	115677			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.597G>A	2.37:g.169699594G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.L199	ENST00000317647.7	37	c.597	CCDS42771.1	2																																																																																			NOSTRIN	-	NULL		0.363	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	G	NM_052946		169699594	+1	no_errors	ENST00000444448	ensembl	human	known	70_37	silent	SNP	1.000	A
NOTCH4	4855	genome.wustl.edu	37	6	32163526	32163526	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32163526G>C	ENST00000375023.3	-	30	5838	c.5700C>G	c.(5698-5700)ctC>ctG	p.L1900L	NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1900					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTACTCCCGAGAGGCTCCGGC	0.677																																																	0													20.0	25.0	23.0					6																	32163526		1506	2701	4207	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5700C>G	6.37:g.32163526G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.L1900	ENST00000375023.3	37	c.5700	CCDS34420.1	6																																																																																			NOTCH4	-	pirsf_Notch		0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	G			32163526	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	silent	SNP	0.000	C
NOXRED1	122945	genome.wustl.edu	37	14	77872322	77872322	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:77872322G>C	ENST00000380835.2	-	5	1005	c.839C>G	c.(838-840)tCt>tGt	p.S280C		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	280					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTGGGCAAGATGCTGTGTC	0.463																																																	0													108.0	95.0	99.0					14																	77872322		1568	3582	5150	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.839C>G	14.37:g.77872322G>C	ENSP00000370215:p.Ser280Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ47|O95435	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420	p.S280C	ENST00000380835.2	37	c.839	CCDS45142.1	14	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128195	0.56721	.	.	ENSG00000165555	ENST00000380835	T	0.59364	0.27	5.34	3.24	0.37175	.	0.701578	0.13513	N	0.382372	T	0.46852	0.1414	L	0.56769	1.78	0.09310	N	0.999999	P	0.35844	0.524	B	0.28139	0.086	T	0.49753	-0.8906	10	0.87932	D	0	-4.7991	5.5184	0.16919	0.1:0.0:0.659:0.241	.	280	Q6NXP6	NXRD1_HUMAN	C	280	ENSP00000370215:S280C	ENSP00000370215:S280C	S	-	2	0	C14orf148	76942075	0.001000	0.12720	0.006000	0.13384	0.965000	0.64279	0.817000	0.27281	1.406000	0.46857	0.460000	0.39030	TCT	NOXRED1	-	NULL		0.463	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	G	NM_138791		77872322	-1	no_errors	ENST00000380835	ensembl	human	known	70_37	missense	SNP	0.003	C
NPAP1	23742	genome.wustl.edu	37	15	24922056	24922056	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:24922056C>G	ENST00000329468.2	+	1	1516	c.1042C>G	c.(1042-1044)Cga>Gga	p.R348G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	348	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCTGTGGGATCGAGGTGAGCT	0.567																																																	0													55.0	50.0	52.0					15																	24922056		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1042C>G	15.37:g.24922056C>G	ENSP00000333735:p.Arg348Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R348G	ENST00000329468.2	37	c.1042	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	16.07	3.019430	0.54576	.	.	ENSG00000185823	ENST00000329468	T	0.12255	2.7	1.93	-0.177	0.13307	.	4.252720	0.00857	N	0.001898	T	0.26484	0.0647	L	0.47190	1.495	0.09310	N	1	D	0.63046	0.992	D	0.72982	0.979	T	0.13072	-1.0523	10	0.32370	T	0.25	.	2.8902	0.05674	0.0:0.5024:0.3018:0.1958	.	348	Q9NZP6	CO002_HUMAN	G	348	ENSP00000333735:R348G	ENSP00000333735:R348G	R	+	1	2	C15orf2	22473149	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.503000	0.06383	-0.035000	0.13691	0.313000	0.20887	CGA	NPAP1	-	NULL		0.567	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24922056	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	G
NPAS3	64067	genome.wustl.edu	37	14	34268968	34268968	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:34268968G>A	ENST00000356141.4	+	12	1455	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	NPAS3_ENST00000551492.1_Silent_p.E490E|NPAS3_ENST00000346562.2_Silent_p.E453E|NPAS3_ENST00000548645.1_Silent_p.E455E|NPAS3_ENST00000357798.5_Silent_p.E472E			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	485					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGTCCGACGAGAAGGGGAACC	0.642																																																	0													27.0	25.0	26.0					14																	34268968		2179	4278	6457	SO:0001819	synonymous_variant	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1455G>A	14.37:g.34268968G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.E485	ENST00000356141.4	37	c.1455	CCDS53891.1	14																																																																																			NPAS3	-	NULL		0.642	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	G			34268968	+1	no_errors	ENST00000356141	ensembl	human	known	70_37	silent	SNP	1.000	A
NPC1L1	29881	genome.wustl.edu	37	7	44578916	44578916	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44578916G>A	ENST00000289547.4	-	2	1135	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	NPC1L1_ENST00000381160.3_Silent_p.V360V|NPC1L1_ENST00000423141.1_Silent_p.V360V|NPC1L1_ENST00000546276.1_Silent_p.V360V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	360					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACCGGGATGACAGATAGCA	0.627																																																	0													91.0	92.0	92.0					7																	44578916		2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1080C>T	7.37:g.44578916G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.V360	ENST00000289547.4	37	c.1080	CCDS5491.1	7																																																																																			NPC1L1	-	NULL		0.627	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44578916	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	silent	SNP	0.000	A
NPFFR2	10886	genome.wustl.edu	37	4	73013316	73013316	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:73013316C>G	ENST00000308744.6	+	4	1454	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	NPFFR2_ENST00000395999.1_Silent_p.L353L|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.L350L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	452					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTTTCCAGCTCCAGCTCTGCC	0.453																																																	0													69.0	75.0	73.0					4																	73013316		2203	4300	6503	SO:0001819	synonymous_variant	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1356C>G	4.37:g.73013316C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RV1|Q9NR49	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L452	ENST00000308744.6	37	c.1356	CCDS3551.1	4																																																																																			NPFFR2	-	NULL		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	C	NM_004885		73013316	+1	no_errors	ENST00000308744	ensembl	human	known	70_37	silent	SNP	0.023	G
PDXDC1	23042	genome.wustl.edu	37	16	15222200	15222200	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:15222200C>G	ENST00000535621.2	+	17	1587				PKD1P6_ENST00000424133.2_RNA|RP11-1186N24.5_ENST00000605794.1_RNA			Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTGGCCGCTCCGGCTGTCCA	0.667																																																	0																																										SO:0001627	intron_variant	100874381			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-10536C>G	16.37:g.15222200C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	p.G295A	ENST00000535621.2	37	c.884		16	.	.	.	.	.	.	.	.	.	.	.	9.992	1.231174	0.22626	.	.	ENSG00000188599	ENST00000358815	.	.	.	.	.	.	.	.	.	.	.	T	0.59432	0.2193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57625	-0.7779	4	0.72032	D	0.01	.	5.8679	0.18786	0.0:0.9992:0.0:8.0E-4	.	.	.	.	A	295	.	ENSP00000440053:G295A	G	-	2	0	NPIPP1	15129701	0.996000	0.38824	0.136000	0.22124	0.137000	0.21094	0.336000	0.19823	0.088000	0.17205	0.089000	0.15464	GGA	NPIPP1	-	NULL		0.667	PDXDC1-016	PUTATIVE	basic	protein_coding	NPIPP1	HGNC	protein_coding	OTTHUMT00000422421.1	C	NM_015027		15222200	-1	no_errors	ENST00000358815	ensembl	human	known	70_37	missense	SNP	1.000	G
NPM1	4869	genome.wustl.edu	37	5	170827185	170827185	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:170827185G>A	ENST00000296930.5	+	7	854	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	NPM1_ENST00000393820.2_Missense_Mutation_p.E185K|NPM1_ENST00000351986.6_Missense_Mutation_p.E185K|NPM1_ENST00000517671.1_Missense_Mutation_p.E185K	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	185	Asp/Glu-rich (highly acidic).|Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			tgatgatgaggaagctgaaga	0.348			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																			Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	0													102.0	97.0	99.0					5																	170827185		2203	4300	6503	SO:0001583	missense	4869			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.553G>A	5.37:g.170827185G>A	ENSP00000296930:p.Glu185Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core	p.E185K	ENST00000296930.5	37	c.553	CCDS4376.1	5	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525313	0.27299	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820	T;T;T;T	0.70164	2.26;2.26;-0.46;2.26	3.63	3.63	0.41609	.	0.189426	0.44097	U	0.000496	T	0.69869	0.3159	M	0.62088	1.915	0.33321	D	0.567294	B;B;P	0.40834	0.373;0.329;0.73	B;P;P	0.49477	0.133;0.458;0.612	T	0.77498	-0.2565	10	0.42905	T	0.14	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	185;185;185	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	K	185	ENSP00000428755:E185K;ENSP00000296930:E185K;ENSP00000341168:E185K;ENSP00000377408:E185K	ENSP00000296930:E185K	E	+	1	0	NPM1	170759790	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.363000	0.52321	2.334000	0.79466	0.655000	0.94253	GAA	NPM1	-	pfam_Nucleoplasmin		0.348	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	HGNC	protein_coding	OTTHUMT00000252858.2	G	NM_002520		170827185	+1	no_errors	ENST00000296930	ensembl	human	known	70_37	missense	SNP	1.000	A
NPR1	4881	genome.wustl.edu	37	1	153657530	153657530	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:153657530G>A	ENST00000368680.3	+	8	2047	c.1575G>A	c.(1573-1575)cgG>cgA	p.R525R		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	525					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGCACCTGCGGAGTGCAGGCA	0.627																																					Pancreas(141;1349 1870 15144 15830 40702)												0													56.0	57.0	57.0					1																	153657530		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1575G>A	1.37:g.153657530G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.R525	ENST00000368680.3	37	c.1575	CCDS1051.1	1																																																																																			NPR1	-	smart_Tyr_kinase_cat_dom		0.627	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153657530	+1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	1.000	A
NPR1	4881	genome.wustl.edu	37	1	153658665	153658665	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:153658665G>C	ENST00000368680.3	+	10	2219	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGTCCTGTTTGAACTGAAGCA	0.542																																					Pancreas(141;1349 1870 15144 15830 40702)												0													135.0	112.0	120.0					1																	153658665		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1747G>C	1.37:g.153658665G>C	ENSP00000357669:p.Glu583Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.E583Q	ENST00000368680.3	37	c.1747	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503945	0.85176	.	.	ENSG00000169418	ENST00000368680	D	0.81579	-1.51	3.92	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.90776	0.7104	H	0.95187	3.635	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	D	0.92592	0.6084	10	0.59425	D	0.04	.	13.8251	0.63346	0.0:0.0:1.0:0.0	.	583	P16066	ANPRA_HUMAN	Q	583	ENSP00000357669:E583Q	ENSP00000357669:E583Q	E	+	1	0	NPR1	151925289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.429000	0.97481	2.191000	0.70037	0.561000	0.74099	GAA	NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.542	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153658665	+1	no_errors	ENST00000368680	ensembl	human	known	70_37	missense	SNP	1.000	C
NPSR1	387129	genome.wustl.edu	37	7	34889232	34889232	+	Missense_Mutation	SNP	G	G	A	rs144899362		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:34889232G>A	ENST00000360581.1	+	9	1209	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E295K|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	361						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGAGAGGCATGAGATGCAGAT	0.498																																																	0													129.0	115.0	120.0					7																	34889232		2203	4300	6503	SO:0001583	missense	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.1081G>A	7.37:g.34889232G>A	ENSP00000353788:p.Glu361Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt	p.E361K	ENST00000360581.1	37	c.1081	CCDS5444.1	7	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382053	0.61845	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000334481	T;T	0.75589	-0.74;-0.95	5.24	5.24	0.73138	.	.	.	.	.	T	0.74854	0.3771	M	0.62723	1.935	0.80722	D	1	P;P	0.50156	0.932;0.666	P;B	0.47402	0.546;0.112	T	0.70970	-0.4727	9	0.18276	T	0.48	.	15.2097	0.73209	0.0:0.1409:0.8591:0.0	.	295;361	Q6W5P4-2;Q6W5P4	.;NPSR1_HUMAN	K	361;295;164	ENSP00000353788:E361K;ENSP00000370953:E295K	ENSP00000334093:E164K	E	+	1	0	NPSR1	34855757	1.000000	0.71417	0.974000	0.42286	0.304000	0.27724	3.484000	0.53201	2.730000	0.93505	0.555000	0.69702	GAG	NPSR1	-	NULL		0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPSR1	HGNC	protein_coding	OTTHUMT00000216837.1	G	NM_207173		34889232	+1	no_errors	ENST00000360581	ensembl	human	known	70_37	missense	SNP	0.985	A
NPTX1	4884	genome.wustl.edu	37	17	78445576	78445576	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:78445576G>A	ENST00000306773.4	-	4	1190	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	345	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TTGATGGGGTGATAGGGCGCC	0.652																																																	0													59.0	47.0	51.0					17																	78445576		2203	4300	6503	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1033C>T	17.37:g.78445576G>A	ENSP00000307549:p.His345Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXH3|Q5FWE6	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.H345Y	ENST00000306773.4	37	c.1033	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.078435	0.94000	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.05081	3.5	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00747	-1.1583	10	0.27082	T	0.32	-31.1349	18.1318	0.89604	0.0:0.0:1.0:0.0	.	345	Q15818	NPTX1_HUMAN	Y	345;107	ENSP00000307549:H345Y	ENSP00000307549:H345Y	H	-	1	0	NPTX1	76060171	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	9.566000	0.98157	2.607000	0.88179	0.561000	0.74099	CAC	NPTX1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.652	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	G			78445576	-1	no_errors	ENST00000306773	ensembl	human	known	70_37	missense	SNP	1.000	A
NRAP	4892	genome.wustl.edu	37	10	115364439	115364439	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:115364439G>C	ENST00000359988.3	-	35	4400	c.4156C>G	c.(4156-4158)Cac>Gac	p.H1386D	NRAP_ENST00000369358.4_Missense_Mutation_p.H1394D|NRAP_ENST00000360478.3_Missense_Mutation_p.H1351D|NRAP_ENST00000369360.3_Missense_Mutation_p.H1359D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.H1386D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAACTTGTGATACTGTGTC	0.587																																																	1	Substitution - Missense(1)	lung(1)											131.0	124.0	127.0					10																	115364439		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4156C>G	10.37:g.115364439G>C	ENSP00000353078:p.His1386Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.H1394D	ENST00000359988.3	37	c.4180	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057968	0.55325	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.54	5.54	0.83059	.	0.048846	0.85682	D	0.000000	T	0.68568	0.3015	M	0.83118	2.625	0.50039	D	0.999849	D;D;D;D	0.89917	0.988;1.0;0.999;1.0	P;D;D;D	0.91635	0.899;0.999;0.999;0.999	T	0.66858	-0.5817	10	0.33141	T	0.24	.	19.4903	0.95047	0.0:0.0:1.0:0.0	.	544;1386;1351;1386	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	D	1394;1359;1386;1351;544	ENSP00000358365:H1394D;ENSP00000358367:H1359D;ENSP00000353078:H1386D;ENSP00000353666:H1351D	ENSP00000353078:H1386D	H	-	1	0	NRAP	115354429	1.000000	0.71417	0.923000	0.36655	0.071000	0.16799	9.869000	0.99810	2.622000	0.88805	0.555000	0.69702	CAC	NRAP	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.587	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115364439	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	1.000	C
NRD1	4898	genome.wustl.edu	37	1	52277771	52277771	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:52277771C>T	ENST00000354831.7	-	17	2068		c.e17-1		NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTGGATCTGTCTGTAAAGAGG	0.353																																																	0													108.0	97.0	101.0					1																	52277771		2203	4300	6503	SO:0001630	splice_region_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1879-1G>A	1.37:g.52277771C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	-	e17-1	ENST00000354831.7	37	c.1879-1	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746329	0.89663	.	.	ENSG00000078618	ENST00000440943;ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52050359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.416000	0.80143	2.835000	0.97688	0.650000	0.86243	.	NRD1	-	-		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	C	NM_002525	Intron	52277771	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	splice_site	SNP	1.000	T
NRM	11270	genome.wustl.edu	37	6	30655897	30655897	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30655897G>C	ENST00000259953.4	-	0	1681				NRM_ENST00000470733.1_5'UTR|PPP1R18_ENST00000274853.3_5'Flank|NRM_ENST00000376421.5_3'UTR|PPP1R18_ENST00000488324.1_5'Flank|PPP1R18_ENST00000399199.3_5'Flank|NRM_ENST00000376420.5_3'UTR	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)							integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)				large_intestine(1)|lung(2)	3						CCAAGTCATCGAGTTAAGAGC	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	11270			AF143676	CCDS4686.1, CCDS59498.1	6p21.3	2010-02-17			ENSG00000137404	ENSG00000137404			8003	protein-coding gene	gene with protein product						10402458, 17517639	Standard	NM_007243		Approved	NRM29	uc031sng.1	Q8IXM6	OTTHUMG00000031223	ENST00000259953.4:c.*541C>G	6.37:g.30655897G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0S7R0|B0S7R1|I3XIE2|I3XIE3|Q5JP57|Q5JP58|Q5JP59|Q5JP60|Q8WU45|Q9BSX3|Q9UN92	RNA	SNP	-	NULL	ENST00000259953.4	37	NULL	CCDS4686.1	6																																																																																			NRM	-	-		0.552	NRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRM	HGNC	protein_coding	OTTHUMT00000076466.2	G			30655897	-1	no_errors	ENST00000462857	ensembl	human	known	70_37	rna	SNP	0.000	C
NRP1	8829	genome.wustl.edu	37	10	33545282	33545282	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:33545282G>A	ENST00000265371.4	-	6	1301	c.776C>T	c.(775-777)tCa>tTa	p.S259L	NRP1_ENST00000374816.3_Missense_Mutation_p.S259L|NRP1_ENST00000374822.4_Missense_Mutation_p.S259L|NRP1_ENST00000374875.1_Missense_Mutation_p.S78L|NRP1_ENST00000395995.1_Missense_Mutation_p.S259L|NRP1_ENST00000374823.5_Missense_Mutation_p.S259L|NRP1_ENST00000374867.2_Missense_Mutation_p.S259L|NRP1_ENST00000374821.5_Missense_Mutation_p.S259L|NRP1_ENST00000432372.2_Missense_Mutation_p.S259L			O14786	NRP1_HUMAN	neuropilin 1	259	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTAGTTTGCTGAGAAACCTTC	0.453																																					Melanoma(104;886 1489 44640 45944 51153)												0													132.0	124.0	127.0					10																	33545282		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.776C>T	10.37:g.33545282G>A	ENSP00000265371:p.Ser259Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.S259L	ENST00000265371.4	37	c.776	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.85	5.85	0.93711	CUB (5);	0.059421	0.64402	D	0.000001	T	0.38957	0.1060	L	0.48218	1.51	0.80722	D	1	D;D;D;P;P;P;D;D;D	0.67145	0.996;0.988;0.996;0.454;0.954;0.914;0.996;0.996;0.991	D;D;D;B;P;P;D;D;P	0.72982	0.973;0.94;0.965;0.256;0.517;0.649;0.979;0.973;0.9	T	0.06373	-1.0830	10	0.87932	D	0	-12.1064	13.3804	0.60764	0.0716:0.0:0.9284:0.0	.	259;259;259;259;259;259;259;78;259	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	L	259;78;259;259;259;259;259;259;78	ENSP00000265371:S259L;ENSP00000364009:S78L;ENSP00000364001:S259L;ENSP00000379317:S259L;ENSP00000363955:S259L;ENSP00000363954:S259L;ENSP00000363956:S259L;ENSP00000363949:S259L	ENSP00000265371:S259L	S	-	2	0	NRP1	33585288	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.661000	0.74422	2.768000	0.95171	0.655000	0.94253	TCA	NRP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	G			33545282	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	missense	SNP	0.997	A
NRXN1	9378	genome.wustl.edu	37	2	50733678	50733678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:50733678C>A	ENST00000406316.2	-	13	3928	c.2452G>T	c.(2452-2454)Gga>Tga	p.G818*	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.G858*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G818*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G810*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G810*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G818*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	818	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAACTTTTTCCACGCCGAACT	0.443																																																	0													130.0	132.0	132.0					2																	50733678		1939	4136	6075	SO:0001587	stop_gained	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2452G>T	2.37:g.50733678C>A	ENSP00000384311:p.Gly818*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.G810*	ENST00000406316.2	37	c.2428	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	50	17.208731	0.99881	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.7	5.7	0.88788	.	0.051257	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	.	.	.	X	858;818;810;818;859;810;818	.	ENSP00000385017:G818X	G	-	1	0	NRXN1	50587182	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GGA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50733678	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NSG1	27065	genome.wustl.edu	37	4	4411304	4411304	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:4411304C>G	ENST00000421177.2	+	8	2242	c.251C>G	c.(250-252)tCc>tGc	p.S84C	NSG1_ENST00000504171.1_Missense_Mutation_p.S45C|NSG1_ENST00000506380.1_Missense_Mutation_p.S84C|NSG1_ENST00000513555.1_Missense_Mutation_p.S84C|NSG1_ENST00000397958.1_Missense_Mutation_p.S84C|NSG1_ENST00000505246.1_Missense_Mutation_p.S84C|NSG1_ENST00000433139.2_Missense_Mutation_p.S84C			P42857	NSG1_HUMAN		84					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CCACAGGTCTCCGTGTTGGTC	0.632																																																	0													151.0	116.0	128.0					4																	4411304		2203	4300	6503	SO:0001583	missense	27065																														ENST00000421177.2:c.251C>G	4.37:g.4411304C>G	ENSP00000388823:p.Ser84Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXC5|Q49AQ1	Missense_Mutation	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.S84C	ENST00000421177.2	37	c.251	CCDS3376.1	4	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925492	0.52759	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	3.99	3.99	0.46301	.	0.068296	0.56097	D	0.000024	T	0.45935	0.1367	N	0.08118	0	0.45822	D	0.998692	P;P	0.43477	0.57;0.808	B;P	0.51229	0.383;0.663	T	0.58814	-0.7570	9	0.72032	D	0.01	-18.867	16.2803	0.82673	0.0:1.0:0.0:0.0	.	45;84	B4DXC5;P42857	.;NSG1_HUMAN	C	84;84;84;84;84;84;45	.	ENSP00000381049:S84C	S	+	2	0	AC110814.1	4462205	1.000000	0.71417	0.990000	0.47175	0.316000	0.28119	6.810000	0.75216	2.043000	0.60533	0.561000	0.74099	TCC	NSG1	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact		0.632	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSG1	Uniprot_genename	protein_coding	OTTHUMT00000246799.1	C			4411304	+1	no_errors	ENST00000397958	ensembl	human	known	70_37	missense	SNP	1.000	G
NSMCE4A	54780	genome.wustl.edu	37	10	123719111	123719111	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:123719111C>G	ENST00000369023.3	-	9	1040		c.e9-1		NSMCE4A_ENST00000489266.1_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CTAACAGGCTCTGTTTGAAAG	0.318																																																	0													110.0	106.0	108.0					10																	123719111		2203	4300	6503	SO:0001630	splice_region_variant	54780			AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.989-1G>C	10.37:g.123719111C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Splice_Site	SNP	-	e9-1	ENST00000369023.3	37	c.989-1	CCDS7624.1	10	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569158	0.65765	.	.	ENSG00000107672	ENST00000369023	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.854	0.78960	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMCE4A	123709101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.826000	0.97356	0.655000	0.94253	.	NSMCE4A	-	-		0.318	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE4A	HGNC	protein_coding	OTTHUMT00000050749.1	C	NM_017615	Intron	123719111	-1	no_errors	ENST00000369023	ensembl	human	known	70_37	splice_site	SNP	1.000	G
NSRP1	84081	genome.wustl.edu	37	17	28506219	28506219	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:28506219G>C	ENST00000247026.5	+	5	475	c.412G>C	c.(412-414)Gat>Cat	p.D138H	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	138	Necessary for alternative splicing activity.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGGGGAGTTTGATGATAAAGA	0.378																																																	0													38.0	39.0	39.0					17																	28506219		2203	4300	6503	SO:0001583	missense	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.412G>C	17.37:g.28506219G>C	ENSP00000247026:p.Asp138His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI71	Missense_Mutation	SNP	pfam_DUF2040	p.D138H	ENST00000247026.5	37	c.412	CCDS11255.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943116	0.73672	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.44482	0.92	5.29	5.29	0.74685	Domain of unknown function DUF2040 (1);	0.197323	0.46758	D	0.000269	T	0.45657	0.1353	L	0.46157	1.445	0.80722	D	1	P	0.49961	0.93	P	0.49140	0.601	T	0.41197	-0.9522	10	0.52906	T	0.07	-15.3793	13.6638	0.62382	0.0:0.1547:0.8453:0.0	.	138	Q9H0G5	NSRP1_HUMAN	H	138;69;84	ENSP00000247026:D138H	ENSP00000247026:D138H	D	+	1	0	NSRP1	25530345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.592000	0.67543	2.468000	0.83385	0.591000	0.81541	GAT	NSRP1	-	pfam_DUF2040		0.378	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	G	NM_032141		28506219	+1	no_errors	ENST00000247026	ensembl	human	known	70_37	missense	SNP	1.000	C
NSUN5	55695	genome.wustl.edu	37	7	72721671	72721671	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:72721671C>T	ENST00000252594.6	-	3	315	c.300G>A	c.(298-300)gcG>gcA	p.A100A	NSUN5_ENST00000310326.8_Silent_p.A100A|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000438747.2_Silent_p.A100A			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CCTTGAGCCTCGCCTGGTGCC	0.602																																																	0													46.0	39.0	41.0					7																	72721671		2203	4300	6503	SO:0001819	synonymous_variant	55695			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.300G>A	7.37:g.72721671C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.A100	ENST00000252594.6	37	c.300	CCDS5547.1	7																																																																																			NSUN5	-	NULL		0.602	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	C	NM_148956		72721671	-1	no_errors	ENST00000438747	ensembl	human	known	70_37	silent	SNP	0.982	T
NUAK2	81788	genome.wustl.edu	37	1	205273176	205273176	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:205273176C>G	ENST00000367157.3	-	7	1415	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGATTGGGCTGAGCTCCGG	0.622																																																	0													60.0	59.0	59.0					1																	205273176		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1289G>C	1.37:g.205273176C>G	ENSP00000356125:p.Ser430Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S430T	ENST00000367157.3	37	c.1289	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.470932	0.01044	.	.	ENSG00000163545	ENST00000367157	T	0.72394	-0.65	4.84	2.78	0.32641	.	0.540330	0.17021	N	0.190124	T	0.52451	0.1735	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18999	-1.0319	10	0.13470	T	0.59	.	16.054	0.80782	0.0:0.6284:0.3715:0.0	.	430	Q9H093	NUAK2_HUMAN	T	430	ENSP00000356125:S430T	ENSP00000356125:S430T	S	-	2	0	NUAK2	203539799	0.000000	0.05858	0.345000	0.25642	0.073000	0.16967	0.048000	0.14078	1.014000	0.39417	0.407000	0.27541	AGC	NUAK2	-	NULL		0.622	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	C	NM_030952		205273176	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	missense	SNP	0.005	G
NUAK2	81788	genome.wustl.edu	37	1	205275364	205275364	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:205275364G>C	ENST00000367157.3	-	5	768	c.642C>G	c.(640-642)ctC>ctG	p.L214L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGAGGCATAGAGGGGGCTCC	0.547																																																	0													105.0	103.0	104.0					1																	205275364		2203	4300	6503	SO:0001819	synonymous_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.642C>G	1.37:g.205275364G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L214	ENST00000367157.3	37	c.642	CCDS1453.1	1																																																																																			NUAK2	-	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		0.547	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	G	NM_030952		205275364	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	silent	SNP	0.997	C
NUDC	10726	genome.wustl.edu	37	1	27267965	27267965	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:27267965C>T	ENST00000321265.5	+	3	300	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	59					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CACAGACTTTCAGCCACCACA	0.642																																																	0													32.0	35.0	34.0					1																	27267965		2203	4300	6503	SO:0001819	synonymous_variant	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.177C>T	1.37:g.27267965C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Silent	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.F59	ENST00000321265.5	37	c.177	CCDS292.1	1																																																																																			NUDC	-	NULL		0.642	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	C			27267965	+1	no_errors	ENST00000321265	ensembl	human	known	70_37	silent	SNP	0.999	T
NUAK2	81788	genome.wustl.edu	37	1	205275402	205275402	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:205275402G>C	ENST00000367157.3	-	5	730	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AACTTGCCTTGATGGTAGAGG	0.557																																																	0													118.0	113.0	115.0					1																	205275402		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.604C>G	1.37:g.205275402G>C	ENSP00000356125:p.Gln202Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q202E	ENST00000367157.3	37	c.604	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.095944	0.36952	.	.	ENSG00000163545	ENST00000367157	T	0.63913	-0.07	5.74	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.516058	0.16395	N	0.216315	T	0.34366	0.0895	N	0.04636	-0.2	0.25676	N	0.985847	B	0.24317	0.101	B	0.28916	0.096	T	0.31447	-0.9943	10	0.05959	T	0.93	.	8.1769	0.31287	0.0719:0.0:0.6347:0.2934	.	202	Q9H093	NUAK2_HUMAN	E	202	ENSP00000356125:Q202E	ENSP00000356125:Q202E	Q	-	1	0	NUAK2	203542025	0.905000	0.30787	1.000000	0.80357	0.996000	0.88848	1.594000	0.36697	0.709000	0.31976	0.655000	0.94253	CAA	NUAK2	-	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		0.557	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	G	NM_030952		205275402	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	missense	SNP	0.938	C
NUDT10	170685	genome.wustl.edu	37	X	51076121	51076121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:51076121G>T	ENST00000376006.3	+	2	524	c.304G>T	c.(304-306)Gag>Tag	p.E102*	NUDT10_ENST00000356450.2_Nonsense_Mutation_p.E102*	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GACTGTCACGGAGCTGCTGGA	0.557																																					NSCLC(90;1817 2035 37909 38249)												0													71.0	66.0	67.0					X																	51076121		2203	4300	6503	SO:0001587	stop_gained	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.304G>T	X.37:g.51076121G>T	ENSP00000365174:p.Glu102*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBN1|Q8NCB9|Q8NG25	Nonsense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E102*	ENST00000376006.3	37	c.304	CCDS35278.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.903298	0.97087	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	.	.	.	3.14	2.26	0.28386	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-2.7732	7.3002	0.26415	0.1467:0.0:0.8533:0.0	.	.	.	.	X	102	.	ENSP00000348831:E102X	E	+	1	0	NUDT10	51092861	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.047000	0.76599	1.602000	0.50124	0.429000	0.28392	GAG	NUDT10	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.557	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1	G	NM_153183		51076121	+1	no_errors	ENST00000356450	ensembl	human	known	70_37	nonsense	SNP	0.968	T
NUDT16L1	84309	genome.wustl.edu	37	16	4744305	4744305	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4744305G>C	ENST00000304301.6	+	2	447				NUDT16L1_ENST00000405142.1_Silent_p.P160P|NUDT16L1_ENST00000586536.1_Silent_p.P160P|NUDT16L1_ENST00000586252.1_Intron	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1							cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGAAGGCACCGATGGGTAACA	0.756																																																	0																																										SO:0001627	intron_variant	84309			BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.414+66G>C	16.37:g.4744305G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAI2	Silent	SNP	superfamily_NUDIX_hydrolase_dom-like	p.P160	ENST00000304301.6	37	c.480	CCDS10519.1	16																																																																																			NUDT16L1	-	NULL		0.756	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16L1	HGNC	protein_coding	OTTHUMT00000251634.1	G	NM_032349		4744305	+1	no_errors	ENST00000405142	ensembl	human	known	70_37	silent	SNP	0.998	C
NUP62	23636	genome.wustl.edu	37	19	50412023	50412023	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50412023C>T	ENST00000596217.1	-	2	2929	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	NUP62_ENST00000413454.1_Missense_Mutation_p.E348K|NUP62_ENST00000422090.2_Missense_Mutation_p.E348K|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.E348K|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.E348K|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	348					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTGCCGCTCCTGGTCCTCT	0.642																																																	0													83.0	87.0	86.0					19																	50412023		2203	4299	6502	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1042G>A	19.37:g.50412023C>T	ENSP00000471191:p.Glu348Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.E348K	ENST00000596217.1	37	c.1042	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.466773	0.96257	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.77750	-1.12;-1.12;-1.12	5.2	5.2	0.72013	Nucleoporin, NSP1-like, C-terminal (2);	0.000000	0.64402	U	0.000001	D	0.87541	0.6203	M	0.79805	2.47	0.80722	D	1	P	0.41420	0.749	P	0.59012	0.85	D	0.86321	0.1692	9	.	.	.	-19.2989	16.6399	0.85069	0.0:1.0:0.0:0.0	.	348	P37198	NUP62_HUMAN	K	348	ENSP00000305503:E348K;ENSP00000407331:E348K;ENSP00000387991:E348K	.	E	-	1	0	NUP62	55103835	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.324000	0.79115	2.876000	0.98609	0.655000	0.94253	GAG	NUP62	-	pfam_Nucleoporin_NSP1_C		0.642	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719		50412023	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	1.000	T
NUSAP1	51203	genome.wustl.edu	37	15	41643260	41643260	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:41643260C>T	ENST00000559596.1	+	4	468	c.381C>T	c.(379-381)ctC>ctT	p.L127L	NUSAP1_ENST00000560177.1_Silent_p.L126L|NUSAP1_ENST00000450318.1_Silent_p.L127L|NUSAP1_ENST00000414849.2_Silent_p.L127L|NUSAP1_ENST00000260359.6_Silent_p.L112L|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Silent_p.L126L|NUSAP1_ENST00000450592.2_Silent_p.L104L			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	127					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)		GCCAGGATCTCAGAGCTACTG	0.383																																																	0													72.0	67.0	68.0					15																	41643260		1886	4127	6013	SO:0001819	synonymous_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.381C>T	15.37:g.41643260C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	NULL	p.L127	ENST00000559596.1	37	c.381	CCDS45234.1	15																																																																																			NUSAP1	-	NULL		0.383	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	C	NM_016359		41643260	+1	no_errors	ENST00000559596	ensembl	human	known	70_37	silent	SNP	0.000	T
NWD1	284434	genome.wustl.edu	37	19	16872844	16872844	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:16872844G>C	ENST00000552788.1	+	6	2028	c.2028G>C	c.(2026-2028)aaG>aaC	p.K676N	NWD1_ENST00000549814.1_Missense_Mutation_p.K676N|NWD1_ENST00000523826.1_Missense_Mutation_p.K470N|NWD1_ENST00000339803.6_Missense_Mutation_p.K541N|NWD1_ENST00000379808.3_Missense_Mutation_p.K676N|NWD1_ENST00000524140.2_Missense_Mutation_p.K676N			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	676							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAGAGCCAAGAGGCATGGCG	0.572																																																	0													102.0	77.0	86.0					19																	16872844		2203	4300	6503	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2028G>C	19.37:g.16872844G>C	ENSP00000447224:p.Lys676Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K676N	ENST00000552788.1	37	c.2028		19	.	.	.	.	.	.	.	.	.	.	G	6.580	0.475397	0.12521	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58210	0.35;0.41;0.35;0.35;0.41;0.4	4.65	3.61	0.41365	.	0.660669	0.14878	N	0.293145	T	0.42921	0.1224	L	0.54323	1.7	0.23787	N	0.996846	B;B;B	0.31125	0.017;0.029;0.309	B;B;B	0.27608	0.01;0.009;0.081	T	0.22103	-1.0226	10	0.20046	T	0.44	-4.2669	8.5835	0.33644	0.1092:0.0:0.8908:0.0	.	676;676;541	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	N	541;676;676;676;470;676;541	ENSP00000428579:K676N;ENSP00000447548:K676N;ENSP00000369136:K676N;ENSP00000428955:K470N;ENSP00000447224:K676N;ENSP00000340159:K541N	ENSP00000340159:K541N	K	+	3	2	NWD1	16733844	0.431000	0.25546	0.130000	0.21974	0.469000	0.32828	0.378000	0.20569	0.959000	0.37980	0.543000	0.68304	AAG	NWD1	-	NULL		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	G	NM_001007525		16872844	+1	no_errors	ENST00000379808	ensembl	human	known	70_37	missense	SNP	0.867	C
NYAP1	222950	genome.wustl.edu	37	7	100085778	100085778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100085778C>G	ENST00000300179.2	+	4	593	c.434C>G	c.(433-435)tCa>tGa	p.S145*	NYAP1_ENST00000454988.1_Nonsense_Mutation_p.S88*|NYAP1_ENST00000423930.1_Nonsense_Mutation_p.S145*	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	145	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGTCCAGGCTCACAGAAGCCA	0.557																																																	0													107.0	124.0	118.0					7																	100085778		2203	4300	6503	SO:0001587	stop_gained	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.434C>G	7.37:g.100085778C>G	ENSP00000300179:p.Ser145*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6U9Y3|Q8N1V0	Nonsense_Mutation	SNP	NULL	p.S145*	ENST00000300179.2	37	c.434	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589597	0.66105	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	.	.	.	5.32	5.32	0.75619	.	0.159041	0.29924	N	0.010860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6063	16.4828	0.84162	0.0:1.0:0.0:0.0	.	.	.	.	X	145;145;88	.	ENSP00000300179:S145X	S	+	2	0	C7orf51	99923714	0.912000	0.30974	0.999000	0.59377	0.872000	0.50106	2.253000	0.43205	2.489000	0.83994	0.407000	0.27541	TCA	NYAP1	-	NULL		0.557	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	C	NM_173564		100085778	+1	no_errors	ENST00000423930	ensembl	human	known	70_37	nonsense	SNP	1.000	G
NYNRIN	57523	genome.wustl.edu	37	14	24886443	24886443	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:24886443G>C	ENST00000382554.3	+	9	5806	c.5488G>C	c.(5488-5490)Gac>Cac	p.D1830H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1830					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAATGTGGGTGACCAGGTCCT	0.587																																																	0													58.0	66.0	64.0					14																	24886443		2030	4186	6216	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5488G>C	14.37:g.24886443G>C	ENSP00000371994:p.Asp1830His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.D1830H	ENST00000382554.3	37	c.5488	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	16.45	3.128043	0.56721	.	.	ENSG00000205978	ENST00000382554	T	0.19105	2.17	4.65	4.65	0.58169	.	.	.	.	.	T	0.33089	0.0851	N	0.24115	0.695	0.35379	D	0.789781	D	0.89917	1.0	D	0.83275	0.996	T	0.42548	-0.9445	9	0.72032	D	0.01	.	15.3964	0.74798	0.0:0.0:1.0:0.0	.	1830	Q9P2P1	NYNRI_HUMAN	H	1830	ENSP00000371994:D1830H	ENSP00000371994:D1830H	D	+	1	0	NYNRIN	23956283	1.000000	0.71417	0.971000	0.41717	0.401000	0.30781	5.730000	0.68546	2.571000	0.86741	0.563000	0.77884	GAC	NYNRIN	-	NULL		0.587	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	G			24886443	+1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.988	C
OASL	8638	genome.wustl.edu	37	12	121471367	121471367	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:121471367C>G	ENST00000257570.5	-	2	648	c.378G>C	c.(376-378)ctG>ctC	p.L126L	OASL_ENST00000339275.5_Silent_p.L126L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	126					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCCATCCTCAGGTCCTCGA	0.592																																					Colon(192;517 2041 31392 31913 39966)												0													119.0	102.0	108.0					12																	121471367		2203	4300	6503	SO:0001819	synonymous_variant	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.378G>C	12.37:g.121471367C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.L126	ENST00000257570.5	37	c.378	CCDS9211.1	12																																																																																			OASL	-	NULL		0.592	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	C	NM_003733		121471367	-1	no_errors	ENST00000257570	ensembl	human	known	70_37	silent	SNP	0.000	G
OBSL1	23363	genome.wustl.edu	37	2	220431664	220431664	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:220431664C>G	ENST00000404537.1	-	5	2078	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	OBSL1_ENST00000373873.4_Missense_Mutation_p.Q674H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q674H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q674H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q261H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q674H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	674					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGACCCTTCTGCTCTATAC	0.627																																																	0													42.0	47.0	45.0					2																	220431664		2011	4173	6184	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2022G>C	2.37:g.220431664C>G	ENSP00000385636:p.Gln674His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q674H	ENST00000404537.1	37	c.2022	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	3.122	-0.180305	0.06380	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.05	-0.185	0.13276	Immunoglobulin-like fold (1);	.	.	.	.	T	0.21921	0.0528	N	0.13352	0.335	0.20638	N	0.999879	B;B;B;B	0.11235	0.001;0.003;0.0;0.004	B;B;B;B	0.14578	0.005;0.008;0.001;0.011	T	0.25882	-1.0119	9	0.20046	T	0.44	.	7.1707	0.25717	0.1156:0.2637:0.543:0.0776	.	675;674;261;674	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	674;674;674;674;261	ENSP00000265318:Q674H;ENSP00000385636:Q674H;ENSP00000362983:Q674H;ENSP00000362980:Q674H;ENSP00000289656:Q261H	ENSP00000265318:Q674H	Q	-	3	2	OBSL1	220139908	0.001000	0.12720	0.936000	0.37596	0.412000	0.31113	-0.302000	0.08221	0.010000	0.14839	0.655000	0.94253	CAG	OBSL1	-	smart_Ig_sub		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220431664	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.024	G
ODF3	113746	genome.wustl.edu	37	11	199426	199426	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:199426C>G	ENST00000325113.4	+	6	909	c.592C>G	c.(592-594)Ccg>Gcg	p.P198A	ODF3_ENST00000525282.1_Intron|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	198					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTTCAAGGCTCCGCAGTACAC	0.637																																																	0													35.0	29.0	31.0					11																	199426		2197	4289	6486	SO:0001583	missense	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.592C>G	11.37:g.199426C>G	ENSP00000325868:p.Pro198Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLT0|Q69YX0	Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.P198A	ENST00000325113.4	37	c.592	CCDS7688.1	11	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923292	0.73213	.	.	ENSG00000177947	ENST00000325113	T	0.50277	0.75	5.0	5.0	0.66597	.	0.000000	0.45867	D	0.000331	T	0.70798	0.3265	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.75167	-0.3413	10	0.66056	D	0.02	-11.8003	13.6637	0.62382	0.0:1.0:0.0:0.0	.	198	Q96PU9	ODF3A_HUMAN	A	198	ENSP00000325868:P198A	ENSP00000325868:P198A	P	+	1	0	ODF3	189426	0.997000	0.39634	0.996000	0.52242	0.945000	0.59286	5.770000	0.68873	2.579000	0.87056	0.561000	0.74099	CCG	ODF3	-	pfam_SHIPPO-rpt		0.637	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3	HGNC	protein_coding	OTTHUMT00000239287.1	C			199426	+1	no_errors	ENST00000325113	ensembl	human	known	70_37	missense	SNP	0.996	G
OGDH	4967	genome.wustl.edu	37	7	44736529	44736529	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44736529G>C	ENST00000222673.5	+	15	1959	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	OGDH_ENST00000449767.1_Missense_Mutation_p.L635F|OGDH_ENST00000444676.1_Missense_Mutation_p.L654F|OGDH_ENST00000543843.1_Missense_Mutation_p.L590F|OGDH_ENST00000439616.2_Missense_Mutation_p.L489F|OGDH_ENST00000447398.1_Missense_Mutation_p.L650F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	639					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCCGGATCTTGAAGACTCGTG	0.607																																																	0													73.0	61.0	65.0					7																	44736529		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1917G>C	7.37:g.44736529G>C	ENSP00000222673:p.Leu639Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L639F	ENST00000222673.5	37	c.1917	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738422	0.69304	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	4.86	3.96	0.45880	.	0.000000	0.64402	D	0.000001	D	0.95329	0.8484	M	0.86420	2.815	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.76575	0.984;0.988;0.984;0.984;0.984;0.984	D	0.94438	0.7656	10	0.56958	D	0.05	-19.1485	6.879	0.24163	0.1512:0.1521:0.6968:0.0	.	434;489;635;650;541;639	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	F	489;635;650;654;639;590	ENSP00000398576:L489F;ENSP00000392878:L635F;ENSP00000388183:L650F;ENSP00000414662:L654F;ENSP00000222673:L639F;ENSP00000443821:L590F	ENSP00000222673:L639F	L	+	3	2	OGDH	44703054	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.090000	0.41682	2.492000	0.84095	0.650000	0.86243	TTG	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44736529	+1	no_errors	ENST00000222673	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMK1	8536	genome.wustl.edu	37	3	9800959	9800959	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9800959C>G	ENST00000256460.3	-	10	1090				OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Missense_Mutation_p.S346C|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACTTCTTCCTCTAGACTTGGA	0.463																																																	0													117.0	115.0	115.0					3																	9800959		2203	4300	6503	SO:0001627	intron_variant	4968			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.912+212G>C	3.37:g.9800959C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KPF6	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.S346C	ENST00000256460.3	37	c.1037	CCDS2582.1	3	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256875	0.22965	.	.	ENSG00000114026	ENST00000302008	T	0.61627	0.09	4.37	-0.678	0.11353	.	.	.	.	.	T	0.39384	0.1076	L	0.29908	0.895	0.23594	N	0.997336	B	0.12013	0.005	B	0.06405	0.002	T	0.32402	-0.9908	9	0.72032	D	0.01	.	3.8853	0.09096	0.0:0.3923:0.1852:0.4225	.	346	E5KPM7	.	C	346	ENSP00000305527:S346C	ENSP00000305527:S346C	S	+	2	0	OGG1	9775959	0.000000	0.05858	0.012000	0.15200	0.197000	0.23852	-0.294000	0.08309	-0.048000	0.13401	0.655000	0.94253	TCT	OGG1	-	NULL		0.463	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000250206.1	C	NM_003656		9800959	+1	no_errors	ENST00000302008	ensembl	human	known	70_37	missense	SNP	0.004	G
OMA1	115209	genome.wustl.edu	37	1	58946831	58946831	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:58946831C>T	ENST00000371226.3	-	9	1494	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	OMA1_ENST00000358603.2_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	461					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTACACATCTCTCTAATTTTG	0.313																																																	0													74.0	70.0	71.0					1																	58946831		2203	4300	6503	SO:0001583	missense	115209			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1381G>A	1.37:g.58946831C>T	ENSP00000360270:p.Glu461Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	pfam_Peptidase_M48	p.E461K	ENST00000371226.3	37	c.1381	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921224	0.33908	.	.	ENSG00000162600	ENST00000371226	T	0.16597	2.33	4.31	4.31	0.51392	.	0.085120	0.49305	D	0.000147	T	0.13500	0.0327	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05370	-1.0889	10	0.32370	T	0.25	-15.9883	12.456	0.55704	0.0:1.0:0.0:0.0	.	461	Q96E52	OMA1_HUMAN	K	461	ENSP00000360270:E461K	ENSP00000360270:E461K	E	-	1	0	OMA1	58719419	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	4.034000	0.57289	2.406000	0.81754	0.460000	0.39030	GAG	OMA1	-	NULL		0.313	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	C	NM_145243		58946831	-1	no_errors	ENST00000371226	ensembl	human	known	70_37	missense	SNP	1.000	T
OLFM3	118427	genome.wustl.edu	37	1	102290645	102290645	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:102290645C>G	ENST00000338858.5	-	4	588	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	OLFM3_ENST00000370103.4_Missense_Mutation_p.E177Q|OLFM3_ENST00000536598.1_Missense_Mutation_p.E102Q|OLFM3_ENST00000359814.3_Missense_Mutation_p.E197Q|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	197					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGTAGTTCCTCGTAGTCATAG	0.403																																																	0													158.0	147.0	151.0					1																	102290645		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.589G>C	1.37:g.102290645C>G	ENSP00000345192:p.Glu197Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.E197Q	ENST00000338858.5	37	c.589		1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782874	0.49891	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88896	-2.44;-2.43;-0.83;0.26	5.86	5.86	0.93980	.	0.095383	0.64402	D	0.000001	T	0.81029	0.4738	L	0.51422	1.61	0.54753	D	0.999986	B;P	0.43578	0.228;0.811	B;B	0.34038	0.03;0.174	T	0.81462	-0.0922	10	0.32370	T	0.25	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	177;197	Q5T3V6;Q96PB7	.;NOE3_HUMAN	Q	48;177;197;102;197	ENSP00000359121:E177Q;ENSP00000345192:E197Q;ENSP00000443471:E102Q;ENSP00000352867:E197Q	ENSP00000345192:E197Q	E	-	1	0	OLFM3	102063233	1.000000	0.71417	0.981000	0.43875	0.700000	0.40528	7.802000	0.85969	2.777000	0.95525	0.655000	0.94253	GAG	OLFM3	-	superfamily_Quino_amine_DH_bsu		0.403	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	C			102290645	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	G
OMG	4974	genome.wustl.edu	37	17	29623322	29623322	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:29623322G>C	ENST00000247271.4	-	2	289	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	10					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AACAGGCAGAGAGACATTTTC	0.408																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											80.0	77.0	78.0					17																	29623322		2203	4300	6503	SO:0001583	missense	4974				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.28C>G	17.37:g.29623322G>C	ENSP00000247271:p.Leu10Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P659	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L10V	ENST00000247271.4	37	c.28	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831118	0.16820	.	.	ENSG00000126861	ENST00000247271	T	0.61742	0.08	5.23	4.25	0.50352	.	0.310345	0.27932	N	0.017271	T	0.37679	0.1012	N	0.14661	0.345	0.21386	N	0.999707	B	0.06786	0.001	B	0.06405	0.002	T	0.22556	-1.0213	10	0.40728	T	0.16	-0.3555	9.1719	0.37086	0.08:0.0:0.7655:0.1545	.	10	P23515	OMGP_HUMAN	V	10	ENSP00000247271:L10V	ENSP00000247271:L10V	L	-	1	0	OMG	26647448	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.073000	0.50057	1.329000	0.45376	0.557000	0.71058	CTC	OMG	-	NULL		0.408	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	HGNC	protein_coding	OTTHUMT00000256350.2	G	NM_002544		29623322	-1	no_errors	ENST00000247271	ensembl	human	known	70_37	missense	SNP	1.000	C
OR10A7	121364	genome.wustl.edu	37	12	55615615	55615615	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:55615615G>C	ENST00000326258.1	+	1	807	c.807G>C	c.(805-807)gaG>gaC	p.E269D		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AGTCCCCTGAGAGCAAGAAGC	0.498																																																	0													85.0	77.0	79.0					12																	55615615		2203	4300	6503	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.807G>C	12.37:g.55615615G>C	ENSP00000326718:p.Glu269Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFD5|Q96R19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E269D	ENST00000326258.1	37	c.807	CCDS31815.1	12	.	.	.	.	.	.	.	.	.	.	g	1.940	-0.443894	0.04604	.	.	ENSG00000179919	ENST00000326258	T	0.00076	8.76	4.08	-4.49	0.03504	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000853	T	0.00073	0.0002	N	0.12611	0.24	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.36089	-0.9762	10	0.11794	T	0.64	.	2.9377	0.05819	0.5235:0.1005:0.1724:0.2035	.	269	Q8NGE5	O10A7_HUMAN	D	269	ENSP00000326718:E269D	ENSP00000326718:E269D	E	+	3	2	OR10A7	53901882	0.000000	0.05858	0.006000	0.13384	0.427000	0.31564	-1.523000	0.02235	-1.159000	0.02807	-1.734000	0.00692	GAG	OR10A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	HGNC	protein_coding	OTTHUMT00000406308.1	G			55615615	+1	no_errors	ENST00000326258	ensembl	human	known	70_37	missense	SNP	0.000	C
OR10G4	390264	genome.wustl.edu	37	11	123886816	123886816	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:123886816G>A	ENST00000320891.4	+	1	535	c.535G>A	c.(535-537)Gac>Aac	p.D179N		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTACTTCTGTGACGCACCGCC	0.547																																																	0													190.0	163.0	172.0					11																	123886816		2201	4297	6498	SO:0001583	missense	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.535G>A	11.37:g.123886816G>A	ENSP00000325076:p.Asp179Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D179N	ENST00000320891.4	37	c.535	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	g	14.46	2.542355	0.45280	.	.	ENSG00000254737	ENST00000320891	T	0.00188	8.59	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000205	T	0.00724	0.0024	M	0.90977	3.165	0.34833	D	0.73988	D	0.89917	1.0	D	0.97110	1.0	T	0.56637	-0.7946	10	0.87932	D	0	.	14.8426	0.70237	0.0:0.0:1.0:0.0	.	179	Q8NGN3	O10G4_HUMAN	N	179	ENSP00000325076:D179N	ENSP00000325076:D179N	D	+	1	0	OR10G4	123392026	1.000000	0.71417	0.790000	0.31976	0.034000	0.12701	4.353000	0.59411	1.878000	0.54408	0.580000	0.79431	GAC	OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	G	NM_001004462		123886816	+1	no_errors	ENST00000320891	ensembl	human	known	70_37	missense	SNP	1.000	A
OR10H2	26538	genome.wustl.edu	37	19	15839495	15839495	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15839495C>T	ENST00000305899.3	+	1	662	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTTTTCTCCTCATCCTCCTCT	0.537																																																	0													257.0	198.0	218.0					19																	15839495		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.642C>T	19.37:g.15839495C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFQ1|Q96R58	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L214	ENST00000305899.3	37	c.642	CCDS12333.1	19																																																																																			OR10H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	C			15839495	+1	no_errors	ENST00000305899	ensembl	human	known	70_37	silent	SNP	1.000	T
OR10H1	26539	genome.wustl.edu	37	19	15917990	15917990	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15917990G>C	ENST00000334920.2	-	1	946	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGATGGGGCTGAGGAAGGGTG	0.498																																																	0													83.0	70.0	74.0					19																	15917990		2203	4297	6500	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.858C>G	19.37:g.15917990G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFQ2|Q96R59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L286	ENST00000334920.2	37	c.858	CCDS12335.1	19																																																																																			OR10H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.498	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	G			15917990	-1	no_errors	ENST00000334920	ensembl	human	known	70_37	silent	SNP	0.983	C
OR1F1	4992	genome.wustl.edu	37	16	3254342	3254342	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3254342C>G	ENST00000304646.2	+	1	96	c.96C>G	c.(94-96)ctC>ctG	p.L32L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	32					signal transduction (GO:0007165)	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(1)|large_intestine(2)|lung(7)	11						TGTTCTTCCTCAGCATGTACC	0.582																																																	0													102.0	92.0	95.0					16																	3254342		2197	4298	6495	SO:0001819	synonymous_variant	4992			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.96C>G	16.37:g.3254342C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O15246|Q6IFL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L32	ENST00000304646.2	37	c.96	CCDS10496.1	16																																																																																			OR1F1	-	prints_GPCR_Rhodpsn		0.582	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	HGNC	protein_coding	OTTHUMT00000206985.1	C			3254342	+1	no_errors	ENST00000304646	ensembl	human	known	70_37	silent	SNP	0.038	G
RP11-64J4.2	0	genome.wustl.edu	37	17	3214692	3214692	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:3214692C>G	ENST00000573491.1	-	0	359																											CAACAGCACTCGCATGAGCTG	0.547																																																	0													42.0	34.0	37.0					17																	3214692		2203	4300	6503			390756																															17.37:g.3214692C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000573491.1	37	NULL		17																																																																																			OR3A4P	-	-		0.547	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	OR3A4P	HGNC	sense_overlapping	OTTHUMT00000438371.1	C			3214692	+1	no_errors	ENST00000323164	ensembl	human	known	70_37	rna	SNP	0.021	G
OR52E2	119678	genome.wustl.edu	37	11	5079977	5079977	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5079977C>G	ENST00000321522.2	-	1	880	c.881G>C	c.(880-882)gGa>gCa	p.G294A		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTTCTGACTCCATATATGAC	0.413																																																	0													69.0	70.0	69.0					11																	5079977		2201	4298	6499	SO:0001583	missense	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.881G>C	11.37:g.5079977C>G	ENSP00000322088:p.Gly294Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G294A	ENST00000321522.2	37	c.881	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432377	0.62844	.	.	ENSG00000176787	ENST00000321522	T	0.35236	1.32	3.44	3.44	0.39384	.	0.000000	0.47852	D	0.000215	T	0.37785	0.1016	L	0.41492	1.28	0.44771	D	0.997773	D	0.60160	0.987	P	0.48770	0.589	T	0.42783	-0.9431	10	0.87932	D	0	.	14.7535	0.69546	0.0:1.0:0.0:0.0	.	294	Q8NGJ4	O52E2_HUMAN	A	294	ENSP00000322088:G294A	ENSP00000322088:G294A	G	-	2	0	OR52E2	5036553	0.073000	0.21202	1.000000	0.80357	0.726000	0.41606	3.627000	0.54252	2.250000	0.74265	0.644000	0.83932	GGA	OR52E2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.413	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	C	NM_001005164		5079977	-1	no_errors	ENST00000321522	ensembl	human	known	70_37	missense	SNP	1.000	G
OR51M1	390059	genome.wustl.edu	37	11	5411111	5411111	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5411111C>G	ENST00000328611.3	+	1	505	c.483C>G	c.(481-483)atC>atG	p.I161M	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	161					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTGTCATCTTCCGGGGAC	0.542																																																	0													217.0	210.0	212.0					11																	5411111		2033	4203	6236	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.483C>G	11.37:g.5411111C>G	ENSP00000333196:p.Ile161Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I161M	ENST00000328611.3	37	c.483	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	C	9.012	0.982727	0.18889	.	.	ENSG00000184698	ENST00000328611	T	0.37752	1.18	4.93	0.679	0.17975	GPCR, rhodopsin-like superfamily (1);	1.128640	0.07009	U	0.824723	T	0.43299	0.1241	L	0.51914	1.62	0.09310	N	1	B	0.33549	0.417	P	0.48334	0.574	T	0.51132	-0.8744	10	0.54805	T	0.06	.	4.5498	0.12107	0.1114:0.5332:0.2079:0.1475	.	150	Q9H341	O51M1_HUMAN	M	161	ENSP00000333196:I161M	ENSP00000333196:I161M	I	+	3	3	OR51M1	5367687	0.000000	0.05858	0.253000	0.24343	0.392000	0.30506	-1.494000	0.02296	0.264000	0.21851	-0.797000	0.03246	ATC	OR51M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.542	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	C	NM_001004756		5411111	+1	no_errors	ENST00000328611	ensembl	human	known	70_37	missense	SNP	0.000	G
OR56B1	387748	genome.wustl.edu	37	11	5758467	5758467	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5758467G>C	ENST00000317121.3	+	1	787	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAACTCAGCTGAAGCTGCAGC	0.423																																																	0													135.0	129.0	131.0					11																	5758467		2201	4297	6498	SO:0001583	missense	387748			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.721G>C	11.37:g.5758467G>C	ENSP00000322939:p.Glu241Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E241Q	ENST00000317121.3	37	c.721	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514400	0.44763	.	.	ENSG00000181023	ENST00000317121	T	0.00076	8.76	5.87	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.335138	0.21041	U	0.081164	T	0.00356	0.0011	M	0.68593	2.085	0.21984	N	0.999439	D	0.67145	0.996	D	0.68039	0.955	T	0.45687	-0.9244	10	0.87932	D	0	.	8.1113	0.30916	0.2437:0.0:0.7563:0.0	.	241	Q8NGI3	O56B1_HUMAN	Q	241	ENSP00000322939:E241Q	ENSP00000322939:E241Q	E	+	1	0	OR56B1	5715043	0.005000	0.15991	0.707000	0.30419	0.908000	0.53690	0.698000	0.25571	0.835000	0.34877	0.655000	0.94253	GAA	OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1	G	NM_001005180		5758467	+1	no_errors	ENST00000317121	ensembl	human	known	70_37	missense	SNP	0.438	C
OR56A4	120793	genome.wustl.edu	37	11	6024172	6024172	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6024172G>A	ENST00000330728.4	-	1	252	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		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)		GGAAGCAGATGAGGAGGAATT	0.527																																																	0													96.0	90.0	92.0					11																	6024172		2201	4296	6497	SO:0001819	synonymous_variant	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.207C>T	11.37:g.6024172G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH17	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L69	ENST00000330728.4	37	c.207	CCDS31404.1	11																																																																																			OR56A4	-	NULL		0.527	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A4	HGNC	protein_coding	OTTHUMT00000383756.2	G	NM_001005179		6024172	-1	no_errors	ENST00000330728	ensembl	human	known	70_37	silent	SNP	1.000	A
OR56B4	196335	genome.wustl.edu	37	11	6129417	6129417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6129417C>T	ENST00000316529.3	+	1	504	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCCCTCTTCAGTACCCCTC	0.488																																																	0													136.0	120.0	126.0					11																	6129417		2201	4296	6497	SO:0001587	stop_gained	196335			AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.409C>T	11.37:g.6129417C>T	ENSP00000321196:p.Gln137*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFD7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.Q137*	ENST00000316529.3	37	c.409	CCDS31406.1	11	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112416	0.20795	.	.	ENSG00000180919	ENST00000316529	.	.	.	4.06	2.12	0.27331	.	0.257379	0.19584	U	0.110794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.5575	0.22468	0.4312:0.4789:0.0:0.0899	.	.	.	.	X	137	.	ENSP00000321196:Q137X	Q	+	1	0	OR56B4	6085993	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	-0.032000	0.12266	0.993000	0.38866	0.556000	0.70494	CAG	OR56B4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	HGNC	protein_coding	OTTHUMT00000384668.1	C	NM_001005181		6129417	+1	no_errors	ENST00000316529	ensembl	human	known	70_37	nonsense	SNP	0.070	T
OR4C12	283093	genome.wustl.edu	37	11	50003374	50003374	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:50003374A>G	ENST00000335238.4	-	1	697	c.664T>C	c.(664-666)Tct>Cct	p.S222P		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTTTAAAGATCTCAAGATG	0.398																																																	0													88.0	83.0	85.0					11																	50003374		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.664T>C	11.37:g.50003374A>G	ENSP00000334418:p.Ser222Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S222P	ENST00000335238.4	37	c.664	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	11.69	1.713890	0.30413	.	.	ENSG00000221954	ENST00000335238	T	0.00169	8.63	2.98	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.353337	0.20250	U	0.096104	T	0.00637	0.0021	M	0.94142	3.5	0.09310	N	1	D	0.56968	0.978	D	0.67103	0.949	T	0.34204	-0.9838	10	0.87932	D	0	.	6.6598	0.23009	0.7876:0.0:0.0:0.2124	.	222	Q96R67	OR4CC_HUMAN	P	222	ENSP00000334418:S222P	ENSP00000334418:S222P	S	-	1	0	OR4C12	49959950	0.000000	0.05858	0.121000	0.21740	0.572000	0.35998	0.542000	0.23222	0.335000	0.23614	0.325000	0.21440	TCT	OR4C12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	A	NM_001005270		50003374	-1	no_errors	ENST00000335238	ensembl	human	known	70_37	missense	SNP	0.163	G
OR5D14	219436	genome.wustl.edu	37	11	55563425	55563425	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:55563425C>G	ENST00000335605.1	+	1	394	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTGCAATCCTCTGCTTTATAC	0.537																																																	0													103.0	90.0	95.0					11																	55563425		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.394C>G	11.37:g.55563425C>G	ENSP00000334456:p.Leu132Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L132V	ENST00000335605.1	37	c.394	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	17.46	3.394951	0.62066	.	.	ENSG00000186113	ENST00000335605	T	0.01484	4.84	5.08	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35615	N	0.003097	T	0.16811	0.0404	H	0.97540	4.025	0.40144	D	0.976861	D	0.76494	0.999	D	0.74348	0.983	T	0.08597	-1.0714	10	0.87932	D	0	-11.7266	11.4234	0.49996	0.0:0.9099:0.0:0.0901	.	132	Q8NGL3	OR5DE_HUMAN	V	132	ENSP00000334456:L132V	ENSP00000334456:L132V	L	+	1	2	OR5D14	55320001	0.997000	0.39634	0.978000	0.43139	0.581000	0.36288	3.525000	0.53502	1.107000	0.41642	0.643000	0.83706	CTG	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.537	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	C	NM_001004735		55563425	+1	no_errors	ENST00000335605	ensembl	human	known	70_37	missense	SNP	1.000	G
OR6B2	389090	genome.wustl.edu	37	2	240969076	240969076	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:240969076G>A	ENST00000402971.2	-	1	830	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGACATACATGAAAAGCAAGG	0.542																																																	0													74.0	77.0	76.0					2																	240969076		2028	4177	6205	SO:0001819	synonymous_variant	389090				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.771C>T	2.37:g.240969076G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPR3|Q8NGW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F257	ENST00000402971.2	37	c.771	CCDS46559.1	2																																																																																			OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	G	NM_001005853		240969076	-1	no_errors	ENST00000402971	ensembl	human	known	70_37	silent	SNP	0.996	A
OR6C74	254783	genome.wustl.edu	37	12	55641759	55641759	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:55641759C>G	ENST00000343870.4	+	1	778	c.688C>G	c.(688-690)Caa>Gaa	p.Q230E		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACCTTCTTCTCAACAGAGAAA	0.403																																																	0													79.0	77.0	77.0					12																	55641759		2203	4300	6503	SO:0001583	missense	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.688C>G	12.37:g.55641759C>G	ENSP00000342836:p.Gln230Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q230E	ENST00000343870.4	37	c.688	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	c	11.19	1.565980	0.27915	.	.	ENSG00000197706	ENST00000343870	T	0.00091	8.74	5.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.131073	0.34750	N	0.003710	T	0.00109	0.0003	N	0.11651	0.15	0.09310	N	1	B	0.21147	0.052	B	0.28638	0.092	T	0.14254	-1.0479	10	0.39692	T	0.17	.	9.8661	0.41145	0.1429:0.5882:0.2689:0.0	.	230	A6NCV1	O6C74_HUMAN	E	230	ENSP00000342836:Q230E	ENSP00000342836:Q230E	Q	+	1	0	OR6C74	53928026	0.000000	0.05858	0.649000	0.29536	0.955000	0.61496	-0.361000	0.07612	1.393000	0.46605	0.551000	0.68910	CAA	OR6C74	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	C			55641759	+1	no_errors	ENST00000343870	ensembl	human	known	70_37	missense	SNP	0.020	G
OR7E94P	79273	genome.wustl.edu	37	4	80508906	80508907	+	RNA	INS	-	-	AA	rs398107552|rs35732335	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:80508906_80508907insAA	ENST00000601375.1	-	0	338_339									olfactory receptor, family 7, subfamily E, member 94 pseudogene																		aataataattgaaaaaaaaAGG	0.406																																																	0																																												79273			AC013662		4q21.21	2013-09-24			ENSG00000249646	ENSG00000249646		"""GPCR / Class A : Olfactory receptors"""	14789	pseudogene	pseudogene							Standard	NG_002221		Approved				OTTHUMG00000160914		4.37:g.80508913_80508914dupAA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000601375.1	37	NULL		4																																																																																			OR7E94P	-	-		0.406	OR7E94P-002	KNOWN	basic	processed_transcript	OR7E94P	HGNC	pseudogene	OTTHUMT00000464523.1	-			80508907	-1	no_errors	ENST00000601375	ensembl	human	known	70_37	rna	INS	0.004:0.015	AA
ORC4	5000	genome.wustl.edu	37	2	148705775	148705775	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:148705775C>G	ENST00000392857.5	-	9	714	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	ORC4_ENST00000535373.1_Missense_Mutation_p.E203Q|ORC4_ENST00000540442.1_Missense_Mutation_p.E129Q|ORC4_ENST00000264169.2_Missense_Mutation_p.E203Q|ORC4_ENST00000392858.1_Missense_Mutation_p.E203Q|ORC4_ENST00000536575.1_Missense_Mutation_p.E119Q|ORC4_ENST00000542387.1_5'UTR	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	203					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ACTCTTTTTTCTAAGAGTTCC	0.284																																																	0													58.0	67.0	64.0					2																	148705775		2200	4295	6495	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.607G>C	2.37:g.148705775C>G	ENSP00000376597:p.Glu203Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	p.E203Q	ENST00000392857.5	37	c.607	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952218	0.92660	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857	T;T;T;D;D;T	0.93133	0.46;0.46;0.46;-3.17;-3.17;0.46	5.69	5.69	0.88448	ATPase, AAA-type, core (1);	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.97625	1.0138	10	0.56958	D	0.05	-20.5506	19.8228	0.96604	0.0:1.0:0.0:0.0	.	203;203;203	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	Q	203;203;203;129;119;203	ENSP00000264169:E203Q;ENSP00000441953:E203Q;ENSP00000376598:E203Q;ENSP00000438326:E129Q;ENSP00000441502:E119Q;ENSP00000376597:E203Q	ENSP00000264169:E203Q	E	-	1	0	ORC4	148422245	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.319000	0.79040	2.668000	0.90789	0.650000	0.86243	GAA	ORC4	-	pfam_ATPase_AAA_core,pirsf_ORC4		0.284	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3	C	NM_181742		148705775	-1	no_errors	ENST00000264169	ensembl	human	known	70_37	missense	SNP	1.000	G
OSBP	5007	genome.wustl.edu	37	11	59344396	59344396	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:59344396C>G	ENST00000263847.1	-	13	2642	c.2163G>C	c.(2161-2163)caG>caC	p.Q721H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	721					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCAGTCTCTGGTCAGGTC	0.498																																																	0													168.0	173.0	171.0					11																	59344396		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.2163G>C	11.37:g.59344396C>G	ENSP00000263847:p.Gln721His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q721H	ENST00000263847.1	37	c.2163	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664288	0.67700	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.35421	1.31	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81104	-0.1084	10	0.87932	D	0	-21.9342	16.0592	0.80826	0.0:0.8653:0.1347:0.0	.	721	P22059	OSBP1_HUMAN	H	721;321	ENSP00000263847:Q721H	ENSP00000263847:Q721H	Q	-	3	2	OSBP	59100972	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.026000	0.70873	1.329000	0.45376	-0.175000	0.13238	CAG	OSBP	-	pfam_Oxysterol-bd		0.498	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	C			59344396	-1	no_errors	ENST00000263847	ensembl	human	known	70_37	missense	SNP	1.000	G
OSBPL3	26031	genome.wustl.edu	37	7	24910400	24910400	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:24910400G>A	ENST00000313367.2	-	5	783	c.332C>T	c.(331-333)tCa>tTa	p.S111L	OSBPL3_ENST00000396429.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S111L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S111L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	111	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCATTTTGATGACTTCTTTAC	0.498																																																	0													181.0	140.0	154.0					7																	24910400		2203	4300	6503	SO:0001583	missense	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.332C>T	7.37:g.24910400G>A	ENSP00000315410:p.Ser111Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S111L	ENST00000313367.2	37	c.332	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680791	0.88542	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069;ENST00000415162	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.180542	0.49916	D	0.000121	T	0.24699	0.0599	L	0.41492	1.28	0.44643	D	0.997629	P;P;P;P	0.51933	0.837;0.936;0.936;0.949	P;P;P;P	0.58620	0.637;0.755;0.637;0.842	T	0.00050	-1.2197	10	0.87932	D	0	-13.1539	20.2963	0.98556	0.0:0.0:1.0:0.0	.	111;111;111;111	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	L	111	ENSP00000315410:S111L;ENSP00000315331:S111L;ENSP00000315277:S111L;ENSP00000389779:S111L;ENSP00000379708:S111L;ENSP00000379706:S111L;ENSP00000386953:S111L	ENSP00000315410:S111L	S	-	2	0	OSBPL3	24876925	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.121000	0.57904	2.813000	0.96785	0.655000	0.94253	TCA	OSBPL3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	G			24910400	-1	no_errors	ENST00000313367	ensembl	human	known	70_37	missense	SNP	0.994	A
OSBPL9	114883	genome.wustl.edu	37	1	52117690	52117690	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:52117690C>T	ENST00000428468.1	+	2	141	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	OSBPL9_ENST00000447887.1_Missense_Mutation_p.R47C|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R65C|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R65C|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R47C|OSBPL9_ENST00000435686.2_5'UTR			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	47	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GAGAGGCTCTCGCAGAGGATG	0.313																																																	0													91.0	84.0	86.0					1																	52117690		1805	4080	5885	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.139C>T	1.37:g.52117690C>T	ENSP00000407168:p.Arg47Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R65C	ENST00000428468.1	37	c.193	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294217	0.81025	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	L	0.33624	1.015	0.80722	D	1	D;D;D	0.89917	0.964;0.964;1.0	P;P;D	0.87578	0.636;0.682;0.998	D	0.89377	0.3679	10	0.87932	D	0	-11.2097	15.0019	0.71479	0.0:1.0:0.0:0.0	.	53;47;65	B1AKJ7;Q96SU4;B1AKJ6	.;OSBL9_HUMAN;.	C	47;65;65;47;47	ENSP00000360779:R47C;ENSP00000360775:R65C;ENSP00000337265:R65C;ENSP00000412733:R47C;ENSP00000407168:R47C	ENSP00000337265:R65C	R	+	1	0	OSBPL9	51890278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.142000	0.58044	2.597000	0.87782	0.460000	0.39030	CGC	OSBPL9	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.313	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	C			52117690	+1	no_errors	ENST00000371710	ensembl	human	known	70_37	missense	SNP	1.000	T
OTOG	340990	genome.wustl.edu	37	11	17632185	17632185	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:17632185G>A	ENST00000399391.2	+	35	5374	c.5374G>A	c.(5374-5376)Gat>Aat	p.D1792N	OTOG_ENST00000399397.1_Missense_Mutation_p.D1719N|OTOG_ENST00000342528.2_Missense_Mutation_p.D798N	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1792	Pro-rich.				adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						AACAGCCACTGATGGGCTGGC	0.667																																																	0																																										SO:0001583	missense	340990			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.5374G>A	11.37:g.17632185G>A	ENSP00000382323:p.Asp1792Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.D1792N	ENST00000399391.2	37	c.5374	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770731	0.69992	.	.	ENSG00000188162	ENST00000399391;ENST00000399397;ENST00000342528	T;T;T	0.15372	2.43;2.54;2.89	5.92	5.02	0.67125	.	0.818909	0.11152	N	0.593990	T	0.08846	0.0219	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	10	0.16896	T	0.51	.	8.3546	0.32323	0.0:0.7624:0.1559:0.0817	.	798	Q6ZRI0-2	.	N	1792;1719;798	ENSP00000382323:D1792N;ENSP00000382329:D1719N;ENSP00000341666:D798N	ENSP00000341666:D798N	D	+	1	0	OTOG	17588761	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.930000	0.28858	0.873000	0.35799	-0.120000	0.15030	GAT	OTOG	-	NULL		0.667	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		G			17632185	+1	no_errors	ENST00000399391	ensembl	human	known	70_37	missense	SNP	0.002	A
OTOL1	131149	genome.wustl.edu	37	3	161214769	161214769	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:161214769C>G	ENST00000327928.4	+	1	174	c.174C>G	c.(172-174)ctC>ctG	p.L58L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	58						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGAAACCCTCTTCACAGAAA	0.473																																																	0													110.0	109.0	109.0					3																	161214769		1867	4101	5968	SO:0001819	synonymous_variant	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.174C>G	3.37:g.161214769C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L58	ENST00000327928.4	37	c.174	CCDS46948.1	3																																																																																			OTOL1	-	NULL		0.473	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	C	NM_001080440		161214769	+1	no_errors	ENST00000327928	ensembl	human	known	70_37	silent	SNP	0.000	G
OTOP2	92736	genome.wustl.edu	37	17	72926924	72926924	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:72926924G>A	ENST00000580223.1	+	5	1224	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	OTOP2_ENST00000331427.4_Silent_p.L398L			Q7RTS6	OTOP2_HUMAN	otopetrin 2	398						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAGGACCTGCTGGCAGGGC	0.627																																																	0													77.0	63.0	68.0					17																	72926924		2203	4300	6503	SO:0001819	synonymous_variant	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1194G>A	17.37:g.72926924G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Otopetrin	p.L398	ENST00000580223.1	37	c.1194	CCDS11708.1	17																																																																																			OTOP2	-	pfam_Otopetrin		0.627	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	G	NM_178160		72926924	+1	no_errors	ENST00000331427	ensembl	human	known	70_37	silent	SNP	0.602	A
OTOP3	347741	genome.wustl.edu	37	17	72931871	72931871	+	5'Flank	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:72931871G>A	ENST00000328801.4	+	0	0					NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGATTAATGAGATTTCCAAAG	0.647																																																	0													7.0	9.0	8.0					17																	72931871		1562	2777	4339	SO:0001631	upstream_gene_variant	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5			17.37:g.72931871G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R2K	ENST00000328801.4	37	c.5	CCDS11709.1	17																																																																																			OTOP3	-	NULL		0.647	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	G	NM_178233		72931871	+1	no_errors	ENST00000580749	ensembl	human	known	70_37	missense	SNP	1.000	A
OTUD3	23252	genome.wustl.edu	37	1	20216933	20216933	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20216933C>G	ENST00000375120.3	+	2	278	c.277C>G	c.(277-279)Ctc>Gtc	p.L93V		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	93	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAAATCATCTCAAGCACAG	0.418																																																	0													199.0	186.0	190.0					1																	20216933		1979	4168	6147	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.277C>G	1.37:g.20216933C>G	ENSP00000364261:p.Leu93Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O75047	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.L93V	ENST00000375120.3	37	c.277	CCDS41279.1	1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039696	0.19669	.	.	ENSG00000169914	ENST00000375120	T	0.28666	1.6	5.22	3.3	0.37823	Ovarian tumour, otubain (2);	0.061993	0.64402	N	0.000004	T	0.25306	0.0615	L	0.48935	1.535	0.45108	D	0.998121	B	0.06786	0.001	B	0.13407	0.009	T	0.04537	-1.0944	10	0.30078	T	0.28	.	9.7418	0.40422	0.1593:0.6874:0.1532:0.0	.	93	Q5T2D3	OTUD3_HUMAN	V	93	ENSP00000364261:L93V	ENSP00000364261:L93V	L	+	1	0	OTUD3	20089520	1.000000	0.71417	0.998000	0.56505	0.202000	0.24057	2.689000	0.46993	0.669000	0.31146	0.404000	0.27445	CTC	OTUD3	-	pfam_OTU,pfscan_OTU		0.418	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	C			20216933	+1	no_errors	ENST00000375120	ensembl	human	known	70_37	missense	SNP	1.000	G
OTUD3	23252	genome.wustl.edu	37	1	20230837	20230837	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20230837G>A	ENST00000375120.3	+	5	685	c.684G>A	c.(682-684)ctG>ctA	p.L228L		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	228					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGACCTGAGAGATGAAG	0.368																																																	0													169.0	163.0	165.0					1																	20230837		1914	4135	6049	SO:0001819	synonymous_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.684G>A	1.37:g.20230837G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75047	Silent	SNP	pfam_OTU,pfscan_OTU	p.L228	ENST00000375120.3	37	c.684	CCDS41279.1	1																																																																																			OTUD3	-	NULL		0.368	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	G			20230837	+1	no_errors	ENST00000375120	ensembl	human	known	70_37	silent	SNP	0.976	A
OTUD3	23252	genome.wustl.edu	37	1	20234122	20234122	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20234122G>C	ENST00000375120.3	+	8	1081	c.1080G>C	c.(1078-1080)gaG>gaC	p.E360D		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	360					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGGAGGAGAGGCACCGCC	0.572																																																	0													49.0	64.0	59.0					1																	20234122		2105	4219	6324	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.1080G>C	1.37:g.20234122G>C	ENSP00000364261:p.Glu360Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75047	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E360D	ENST00000375120.3	37	c.1080	CCDS41279.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973549	0.74246	.	.	ENSG00000169914	ENST00000375120	T	0.34472	1.36	5.93	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.62723	1.935	0.50632	D	0.999887	D	0.67145	0.996	D	0.63192	0.912	T	0.42599	-0.9442	10	0.38643	T	0.18	.	10.0747	0.42353	0.2928:0.0:0.7072:0.0	.	360	Q5T2D3	OTUD3_HUMAN	D	360	ENSP00000364261:E360D	ENSP00000364261:E360D	E	+	3	2	OTUD3	20106709	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.346000	0.33964	0.854000	0.35336	-0.140000	0.14226	GAG	OTUD3	-	NULL		0.572	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	G			20234122	+1	no_errors	ENST00000375120	ensembl	human	known	70_37	missense	SNP	0.980	C
OXR1	55074	genome.wustl.edu	37	8	107695447	107695447	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:107695447G>C	ENST00000442977.2	+	4	426	c.327G>C	c.(325-327)ttG>ttC	p.L109F	OXR1_ENST00000497705.1_Missense_Mutation_p.L41F|OXR1_ENST00000517566.2_Missense_Mutation_p.L108F|OXR1_ENST00000531443.1_Missense_Mutation_p.L108F|OXR1_ENST00000445937.1_Missense_Mutation_p.L108F|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.L101F	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	109					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGGATTCTTTGAATAGCATAG	0.279																																																	0													73.0	73.0	73.0					8																	107695447		2203	4296	6499	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.327G>C	8.37:g.107695447G>C	ENSP00000405424:p.Leu109Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.L109F	ENST00000442977.2	37	c.327	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.286933|3.286933	0.59867|0.59867	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000517686;ENST00000497705;ENST00000312046|ENST00000517455	T;T;T;T;T;T;T|.	0.62364|.	0.03;0.03;0.03;0.03;0.03;0.03;0.03|.	5.4|5.4	4.53|4.53	0.55603|0.55603	Peptidoglycan-binding Lysin subgroup (1);Peptidoglycan-binding lysin domain (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.66548|.	0.2800|.	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.999|.	T|.	0.66799|.	-0.5832|.	10|.	0.87932|.	D|.	0|.	-15.517|-15.517	8.9986|8.9986	0.36068|0.36068	0.2367:0.0:0.7633:0.0|0.2367:0.0:0.7633:0.0	.|.	101;109;41;108|.	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	F|S	108;108;108;109;39;41;101|25	ENSP00000402918:L108F;ENSP00000431966:L108F;ENSP00000429205:L108F;ENSP00000405424:L109F;ENSP00000429438:L39F;ENSP00000431014:L41F;ENSP00000311026:L101F|.	ENSP00000311026:L101F|.	L|X	+|+	3|2	2|2	OXR1|OXR1	107764623|107764623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	3.056000|3.056000	0.49923|0.49923	1.424000|1.424000	0.47217|0.47217	-0.252000|-0.252000	0.11476|0.11476	TTG|TGA	OXR1	-	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr		0.279	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		G	NM_181354		107695447	+1	no_errors	ENST00000442977	ensembl	human	known	70_37	missense	SNP	1.000	C
OXR1	55074	genome.wustl.edu	37	8	107695462	107695462	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:107695462G>A	ENST00000442977.2	+	4	441	c.342G>A	c.(340-342)ctG>ctA	p.L114L	OXR1_ENST00000497705.1_Silent_p.L46L|OXR1_ENST00000517566.2_Silent_p.L113L|OXR1_ENST00000531443.1_Silent_p.L113L|OXR1_ENST00000445937.1_Silent_p.L113L|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Silent_p.L106L	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	114					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCATAGCCCTGAAGTTTGATA	0.289																																																	0													84.0	83.0	83.0					8																	107695462		2203	4296	6499	SO:0001819	synonymous_variant	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.342G>A	8.37:g.107695462G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.L114	ENST00000442977.2	37	c.342	CCDS56548.1	8																																																																																			OXR1	-	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr		0.289	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		G	NM_181354		107695462	+1	no_errors	ENST00000442977	ensembl	human	known	70_37	silent	SNP	1.000	A
PADI3	51702	genome.wustl.edu	37	1	17597379	17597379	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:17597379C>T	ENST00000375460.3	+	8	877	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	279					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAGGATTTCTCGGCATCCC	0.582																																																	0													72.0	65.0	68.0					1																	17597379		2203	4300	6503	SO:0001819	synonymous_variant	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.837C>T	1.37:g.17597379C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.F279	ENST00000375460.3	37	c.837	CCDS179.1	1																																																																																			PADI3	-	superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.582	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	C			17597379	+1	no_errors	ENST00000375460	ensembl	human	known	70_37	silent	SNP	1.000	T
PADI3	51702	genome.wustl.edu	37	1	17597449	17597449	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:17597449C>G	ENST00000375460.3	+	8	947	c.907C>G	c.(907-909)Ctg>Gtg	p.L303V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	303					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCCAGCACTCTGCCACCCCT	0.632																																																	0													73.0	68.0	69.0					1																	17597449		2203	4300	6503	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.907C>G	1.37:g.17597449C>G	ENSP00000364609:p.Leu303Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L303V	ENST00000375460.3	37	c.907	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991685	0.35131	.	.	ENSG00000142619	ENST00000375460	T	0.24538	1.85	5.55	4.64	0.57946	Protein-arginine deiminase, C-terminal (1);	0.418027	0.24662	N	0.036639	T	0.30230	0.0758	M	0.67397	2.05	0.33815	D	0.628367	B	0.26081	0.141	B	0.34873	0.191	T	0.39522	-0.9610	10	0.36615	T	0.2	-5.2222	9.0624	0.36442	0.1494:0.7732:0.0:0.0774	.	303	Q9ULW8	PADI3_HUMAN	V	303	ENSP00000364609:L303V	ENSP00000364609:L303V	L	+	1	2	PADI3	17470036	0.013000	0.17824	0.946000	0.38457	0.614000	0.37383	2.523000	0.45580	1.335000	0.45486	-0.310000	0.09108	CTG	PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.632	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	C			17597449	+1	no_errors	ENST00000375460	ensembl	human	known	70_37	missense	SNP	0.993	G
PAG1	55824	genome.wustl.edu	37	8	81903729	81903729	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:81903729C>T	ENST00000220597.4	-	5	872	c.162G>A	c.(160-162)gaG>gaA	p.E54E		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	54					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TCATCAGGTTCTCATGGTCCC	0.502																																																	0													164.0	136.0	145.0					8																	81903729		2203	4300	6503	SO:0001819	synonymous_variant	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.162G>A	8.37:g.81903729C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	NULL	p.E54	ENST00000220597.4	37	c.162	CCDS6227.1	8																																																																																			PAG1	-	NULL		0.502	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAG1	HGNC	protein_coding	OTTHUMT00000379352.3	C	NM_018440		81903729	-1	no_errors	ENST00000220597	ensembl	human	known	70_37	silent	SNP	1.000	T
PAK4	10298	genome.wustl.edu	37	19	39664289	39664289	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39664289C>T	ENST00000593690.1	+	6	1164	c.737C>T	c.(736-738)tCc>tTc	p.S246F	PAK4_ENST00000358301.3_Missense_Mutation_p.S246F|PAK4_ENST00000360442.3_Missense_Mutation_p.S246F|PAK4_ENST00000435673.2_Missense_Mutation_p.S246F|PAK4_ENST00000321944.4_Missense_Mutation_p.S156F|PAK4_ENST00000599470.1_Missense_Mutation_p.S93F|PAK4_ENST00000599386.1_Missense_Mutation_p.S93F	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	246	Linker.|Poly-Ser.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCCTCCTCCTCCTCCCGGCCT	0.716																																																	0													8.0	10.0	10.0					19																	39664289		2091	4153	6244	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.737C>T	19.37:g.39664289C>T	ENSP00000469413:p.Ser246Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.S246F	ENST00000593690.1	37	c.737	CCDS12528.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.408|6.408	0.443413|0.443413	0.12164|0.12164	.|.	.|.	ENSG00000130669|ENSG00000130669	ENST00000542377|ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442	.|T;T;T;T	.|0.72942	.|-0.7;0.82;-0.7;-0.7	3.92|3.92	2.82|2.82	0.32997|0.32997	.|.	.|1.175920	.|0.06196	.|N	.|0.682367	T|T	0.78444|0.78444	0.4284|0.4284	L|L	0.43152|0.43152	1.355|1.355	0.34611|0.34611	D|D	0.717585|0.717585	.|D;B;B	.|0.64830	.|0.994;0.032;0.047	.|D;B;B	.|0.65010	.|0.931;0.015;0.011	T|T	0.75320|0.75320	-0.3359|-0.3359	6|10	0.16420|0.62326	T|D	0.52|0.03	.|.	11.2125|11.2125	0.48806|0.48806	0.0:0.7965:0.2035:0.0|0.0:0.7965:0.2035:0.0	.|.	.|156;93;246	.|O96013-4;O96013-3;O96013	.|.;.;PAK4_HUMAN	S|F	22|246;93;50;246;246	.|ENSP00000351049:S246F;ENSP00000326864:S93F;ENSP00000392753:S246F;ENSP00000353625:S246F	ENSP00000443258:P22S|ENSP00000326864:S93F	P|S	+|+	1|2	0|0	PAK4|PAK4	44356129|44356129	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.136000|0.136000	0.21042|0.21042	1.096000|1.096000	0.30976|0.30976	2.024000|2.024000	0.59613|0.59613	0.555000|0.555000	0.69702|0.69702	CCT|TCC	PAK4	-	NULL		0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	C			39664289	+1	no_errors	ENST00000358301	ensembl	human	known	70_37	missense	SNP	0.992	T
PALMD	54873	genome.wustl.edu	37	1	100154591	100154591	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:100154591G>C	ENST00000263174.4	+	7	1150	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	PALMD_ENST00000605497.1_Missense_Mutation_p.E259Q	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	259					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAGTATCATGAGCCTGTATA	0.453																																																	0													85.0	89.0	88.0					1																	100154591		2203	4300	6503	SO:0001583	missense	54873			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.775G>C	1.37:g.100154591G>C	ENSP00000263174:p.Glu259Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	pfam_Paralemmin	p.E259Q	ENST00000263174.4	37	c.775	CCDS758.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050648	0.75960	.	.	ENSG00000099260	ENST00000263174	T	0.22336	1.96	5.83	5.83	0.93111	.	0.169480	0.50627	D	0.000104	T	0.37128	0.0992	M	0.65975	2.015	0.51482	D	0.99992	D;D	0.63046	0.978;0.992	P;P	0.62560	0.853;0.904	T	0.03202	-1.1061	10	0.51188	T	0.08	-10.5268	20.1374	0.98035	0.0:0.0:1.0:0.0	.	259;179	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	Q	259	ENSP00000263174:E259Q	ENSP00000263174:E259Q	E	+	1	0	PALMD	99927179	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	6.548000	0.73896	2.763000	0.94921	0.563000	0.77884	GAG	PALMD	-	pfam_Paralemmin		0.453	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	G	NM_017734		100154591	+1	no_errors	ENST00000263174	ensembl	human	known	70_37	missense	SNP	1.000	C
PAM	5066	genome.wustl.edu	37	5	102309832	102309832	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:102309832C>T	ENST00000438793.3	+	14	1645	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	PAM_ENST00000346918.2_Missense_Mutation_p.S392L|PAM_ENST00000348126.2_Intron|PAM_ENST00000455264.2_Missense_Mutation_p.S392L|PAM_ENST00000304400.7_Missense_Mutation_p.S392L|PAM_ENST00000274392.9_Missense_Mutation_p.S295L|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	392	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATTTCTATTCACTACTTTCC	0.383																																																	0													54.0	53.0	53.0					5																	102309832		2203	4299	6502	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1175C>T	5.37:g.102309832C>T	ENSP00000396493:p.Ser392Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.S392L	ENST00000438793.3	37	c.1175	CCDS54885.1	5	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597854	0.87055	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000304400;ENST00000274392;ENST00000455264;ENST00000432578	T;T;T;T;T	0.64438	0.8;0.68;0.81;-0.1;0.7	5.63	5.63	0.86233	.	0.063541	0.64402	D	0.000004	T	0.77698	0.4169	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.984;1.0	D;D;D;P;D	0.79108	0.992;0.982;0.992;0.867;0.992	T	0.76777	-0.2834	10	0.54805	T	0.06	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	295;392;392;392;392	F8WE90;P19021;P19021-4;P19021-3;P19021-5	.;AMD_HUMAN;.;.;.	L	392;392;392;295;392;35	ENSP00000396493:S392L;ENSP00000282992:S392L;ENSP00000306100:S392L;ENSP00000274392:S295L;ENSP00000403461:S392L	ENSP00000274392:S295L	S	+	2	0	PAM	102337731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.601000	0.74136	2.814000	0.96858	0.655000	0.94253	TCA	PAM	-	NULL		0.383	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	C	NM_000919		102309832	+1	no_errors	ENST00000304400	ensembl	human	known	70_37	missense	SNP	1.000	T
PAOX	196743	genome.wustl.edu	37	10	135193640	135193640	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:135193640C>T	ENST00000278060.5	+	2	402	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	PAOX_ENST00000480071.2_Missense_Mutation_p.H107Y|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Missense_Mutation_p.H107Y|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	245					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACCGGGGGTCACGTGGGCCT	0.677																																																	0													27.0	29.0	28.0					10																	135193640		2191	4295	6486	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.319C>T	10.37:g.135193640C>T	ENSP00000278060:p.His107Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.H107Y	ENST00000278060.5	37	c.319	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903884	0.72754	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92299	-3.01;-3.01;-3.01	4.88	4.88	0.63580	.	0.128218	0.51477	D	0.000083	D	0.93585	0.7952	L	0.43598	1.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.982;0.987;0.982	D	0.91857	0.5496	10	0.24483	T	0.36	-29.5562	15.5336	0.75983	0.0:1.0:0.0:0.0	.	107;107;107	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Y	107	ENSP00000278060:H107Y;ENSP00000349847:H107Y;ENSP00000435514:H107Y	ENSP00000278060:H107Y	H	+	1	0	PAOX	135043630	0.976000	0.34144	0.855000	0.33649	0.477000	0.33069	3.058000	0.49939	2.258000	0.74832	0.563000	0.77884	CAC	PAOX	-	pfam_Amino_oxidase		0.677	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	C	NM_152911		135193640	+1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	T
PAQR6	79957	genome.wustl.edu	37	1	156214007	156214007	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156214007G>A	ENST00000292291.5	-	8	1106	c.948C>T	c.(946-948)ttC>ttT	p.F316F	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.S234L|PAQR6_ENST00000368270.1_Silent_p.F292F|PAQR6_ENST00000356983.2_Missense_Mutation_p.S234L|PAQR6_ENST00000540423.1_Silent_p.F313F	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	316						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGGTGGCTGTGAAAGCAGCAA	0.642																																					GBM(16;219 398 12385 32425 38531)												0													42.0	42.0	42.0					1																	156214007		2203	4300	6503	SO:0001819	synonymous_variant	79957			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.948C>T	1.37:g.156214007G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	pfam_HlyIII-related	p.S234L	ENST00000292291.5	37	c.701	CCDS1136.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064198	0.36373	.	.	ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983	T;T;T	0.38240	1.15;1.15;1.15	4.71	2.79	0.32731	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.80722	D	1	P;B;B	0.37207	0.587;0.38;0.233	B;B;B	0.36608	0.229;0.183;0.104	T	0.05533	-1.0879	8	0.59425	D	0.04	-3.3457	9.1586	0.37007	0.1862:0.0:0.8138:0.0	.	166;94;234	B4DJ42;Q7Z4Q8;Q6TCH4-2	.;.;.	L	234	ENSP00000353961:S234L;ENSP00000338330:S234L;ENSP00000349474:S234L	ENSP00000338330:S234L	S	-	2	0	PAQR6	154480631	1.000000	0.71417	0.980000	0.43619	0.117000	0.20001	2.554000	0.45845	1.219000	0.43474	0.462000	0.41574	TCA	PAQR6	-	NULL		0.642	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAQR6	HGNC	protein_coding	OTTHUMT00000046297.2	G	NM_024897		156214007	-1	no_errors	ENST00000335852	ensembl	human	known	70_37	missense	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176758970	176758970	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:176758970G>A	ENST00000367662.3	+	18	5905	c.4741G>A	c.(4741-4743)Gaa>Aaa	p.E1581K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1581	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACAATGCCTGGAAGGTGGAAT	0.448																																																	0													83.0	82.0	82.0					1																	176758970		1936	4133	6069	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4741G>A	1.37:g.176758970G>A	ENSP00000356634:p.Glu1581Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E1581K	ENST00000367662.3	37	c.4741	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989166	0.74589	.	.	ENSG00000116183	ENST00000367662	T	0.64803	-0.12	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.114024	0.64402	D	0.000017	T	0.66117	0.2757	M	0.69823	2.125	0.80722	D	1	P	0.36837	0.571	B	0.39935	0.314	T	0.67787	-0.5580	10	0.48119	T	0.1	-15.9129	16.6377	0.85063	0.0:0.0:1.0:0.0	.	1581	Q9BXP8	PAPP2_HUMAN	K	1581	ENSP00000356634:E1581K	ENSP00000356634:E1581K	E	+	1	0	PAPPA2	175025593	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	6.743000	0.74848	2.651000	0.90000	0.650000	0.86243	GAA	PAPPA2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.448	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176758970	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.999	A
PARD3B	117583	genome.wustl.edu	37	2	205983657	205983657	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:205983657C>G	ENST00000406610.2	+	7	900	c.693C>G	c.(691-693)ctC>ctG	p.L231L	PARD3B_ENST00000358768.2_Silent_p.L231L|PARD3B_ENST00000351153.1_Silent_p.L231L|PARD3B_ENST00000349953.3_Silent_p.L231L|PARD3B_ENST00000462231.1_Silent_p.L231L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	231	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCTAGGACTCTTCATCCGAG	0.338																																																	0													77.0	72.0	74.0					2																	205983657		1834	4086	5920	SO:0001819	synonymous_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.693C>G	2.37:g.205983657C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L231	ENST00000406610.2	37	c.693		2																																																																																			PARD3B	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.338	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	C	NM_057177		205983657	+1	no_errors	ENST00000406610	ensembl	human	known	70_37	silent	SNP	0.995	G
PARD6G	84552	genome.wustl.edu	37	18	77917738	77917738	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:77917738G>A	ENST00000353265.3	-	3	1244	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	349					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCAGGGAGCTGAGCAGCCGCT	0.786																																																	0													2.0	2.0	2.0					18																	77917738		1257	2527	3784	SO:0001819	synonymous_variant	84552				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.1047C>T	18.37:g.77917738G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.L349	ENST00000353265.3	37	c.1047	CCDS12022.1	18																																																																																			PARD6G	-	NULL		0.786	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	G	NM_032510		77917738	-1	no_errors	ENST00000353265	ensembl	human	known	70_37	silent	SNP	1.000	A
PARP1	142	genome.wustl.edu	37	1	226561959	226561959	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:226561959C>G	ENST00000366794.5	-	14	2181	c.2038G>C	c.(2038-2040)Gaa>Caa	p.E680Q		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	680	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCATACTTTCCACATCAAAG	0.438								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													182.0	161.0	168.0					1																	226561959		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2038G>C	1.37:g.226561959C>G	ENSP00000355759:p.Glu680Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E680Q	ENST00000366794.5	37	c.2038	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992169	0.74703	.	.	ENSG00000143799	ENST00000366794	T	0.46063	0.88	5.8	5.8	0.92144	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.31926	0.97	0.80722	D	1	B	0.22080	0.064	B	0.23419	0.046	T	0.07693	-1.0759	10	0.33940	T	0.23	.	20.054	0.97641	0.0:1.0:0.0:0.0	.	680	P09874	PARP1_HUMAN	Q	680	ENSP00000355759:E680Q	ENSP00000355759:E680Q	E	-	1	0	PARP1	224628582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.743000	0.94032	0.650000	0.86243	GAA	PARP1	-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom		0.438	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	C	NM_001618		226561959	-1	no_errors	ENST00000366794	ensembl	human	known	70_37	missense	SNP	1.000	G
PATZ1	23598	genome.wustl.edu	37	22	31741129	31741129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:31741129C>A	ENST00000266269.5	-	1	1089	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	PATZ1_ENST00000215919.3_Nonsense_Mutation_p.E154*|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Nonsense_Mutation_p.E154*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.E154*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	154					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TTGATGACTTCCTGGCAGATC	0.582																																																	0													147.0	155.0	152.0					22																	31741129		2203	4300	6503	SO:0001587	stop_gained	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.460G>T	22.37:g.31741129C>A	ENSP00000266269:p.Glu154*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E154*	ENST00000266269.5	37	c.460	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	41	8.976462	0.99023	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	.	.	.	4.1	4.1	0.47936	.	0.057198	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-10.7209	15.6982	0.77517	0.0:1.0:0.0:0.0	.	.	.	.	X	154	.	ENSP00000215919:E154X	E	-	1	0	PATZ1	30071129	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.526000	0.60566	2.007000	0.58848	0.561000	0.74099	GAA	PATZ1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	C	NM_032052		31741129	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PBXIP1	57326	genome.wustl.edu	37	1	154918210	154918210	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154918210C>T	ENST00000368463.3	-	10	2011	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D	PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.G618D|PBXIP1_ENST00000542459.1_Missense_Mutation_p.G492D|PBXIP1_ENST00000539880.1_Missense_Mutation_p.G474D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	647					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGGAAGATGCCATCCTCACC	0.577																																																	0													100.0	89.0	92.0					1																	154918210		2203	4300	6503	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1940G>A	1.37:g.154918210C>T	ENSP00000357448:p.Gly647Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.G647D	ENST00000368463.3	37	c.1940	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289641	0.59976	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.29397	1.57;1.67;1.78;1.73	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.71581	2.175	0.52501	D	0.999956	D	0.89917	1.0	D	0.81914	0.995	T	0.47058	-0.9146	10	0.02654	T	1	-21.3108	12.1095	0.53831	0.0:0.8267:0.1733:0.0	.	647	Q96AQ6	PBIP1_HUMAN	D	618;647;578;474;423;492	ENSP00000357450:G618D;ENSP00000357448:G647D;ENSP00000440142:G474D;ENSP00000438584:G492D	ENSP00000295523:G578D	G	-	2	0	PBXIP1	153184834	0.995000	0.38212	0.945000	0.38365	0.741000	0.42261	3.852000	0.55934	2.445000	0.82738	0.455000	0.32223	GGC	PBXIP1	-	NULL		0.577	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	C	NM_020524		154918210	-1	no_errors	ENST00000368463	ensembl	human	known	70_37	missense	SNP	0.972	T
PCDH1	5097	genome.wustl.edu	37	5	141243154	141243154	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141243154C>G	ENST00000394536.3	-	3	2881	c.2742G>C	c.(2740-2742)aaG>aaC	p.K914N	PCDH1_ENST00000456271.1_Missense_Mutation_p.K902N|PCDH1_ENST00000536585.1_Missense_Mutation_p.K892N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.K914N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	914					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTTGCTCTTCTTGCCTTTGC	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)												0													79.0	80.0	80.0					5																	141243154		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2742G>C	5.37:g.141243154C>G	ENSP00000378043:p.Lys914Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K914N	ENST00000394536.3	37	c.2742	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983974	0.35036	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.75	2.8	0.32819	Protocadherin (1);	0.117336	0.37715	N	0.001971	T	0.54711	0.1875	L	0.61036	1.89	0.50632	D	0.99988	P;D	0.69078	0.661;0.997	B;D	0.66979	0.375;0.948	T	0.56044	-0.8044	10	0.66056	D	0.02	.	8.1269	0.31003	0.0:0.783:0.0:0.217	.	914;914	Q08174;Q08174-2	PCDH1_HUMAN;.	N	914;914;902;925;892	ENSP00000287008:K914N;ENSP00000378043:K914N;ENSP00000403497:K902N;ENSP00000350122:K925N;ENSP00000438825:K892N	ENSP00000287008:K914N	K	-	3	2	PCDH1	141223338	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.882000	0.28186	1.221000	0.43506	0.457000	0.33378	AAG	PCDH1	-	pfam_Protocadherin		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	C	NM_032420		141243154	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDH1	5097	genome.wustl.edu	37	5	141243226	141243226	+	Silent	SNP	C	C	T	rs369271105		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141243226C>T	ENST00000394536.3	-	3	2809	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	PCDH1_ENST00000456271.1_Silent_p.K878K|PCDH1_ENST00000536585.1_Silent_p.K868K|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Silent_p.K890K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	890					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGTCTCCTTCTTACCAGCCT	0.592																																					Ovarian(132;1609 1739 4190 14731 45037)												0								C	,	0,4406		0,0,2203	148.0	149.0	149.0		2670,2670	3.9	1.0	5		149	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PCDH1	NM_002587.3,NM_032420.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	890/1061,890/1238	141243226	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2670G>A	5.37:g.141243226C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUP2	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K890	ENST00000394536.3	37	c.2670	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Protocadherin		0.592	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	C	NM_032420		141243226	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDHA3	56145	genome.wustl.edu	37	5	140180798	140180798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140180798C>T	ENST00000522353.2	+	1	16	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.R6*|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	6					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTCCTGGCGAGAAGATCC	0.468																																																	0													75.0	82.0	80.0					5																	140180798		2203	4300	6503	SO:0001587	stop_gained	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.16C>T	5.37:g.140180798C>T	ENSP00000429808:p.Arg6*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75286	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R6*	ENST00000522353.2	37	c.16	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	12.83	2.055958	0.36277	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	.	.	.	3.57	-6.72	0.01755	.	0.000000	0.38272	U	0.001748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3813	0.21536	0.2425:0.5674:0.1901:0.0	.	.	.	.	X	6	.	ENSP00000429808:R6X	R	+	1	2	PCDHA3	140160982	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-0.281000	0.08456	-1.033000	0.03299	-0.291000	0.09656	CGA	PCDHA3	-	NULL		0.468	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	C	NM_018906		140180798	+1	no_errors	ENST00000522353	ensembl	human	known	70_37	nonsense	SNP	0.005	T
PCDHA9	9752	genome.wustl.edu	37	5	140229588	140229588	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140229588C>T	ENST00000532602.1	+	1	2541	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	PCDHA9_ENST00000378122.3_Missense_Mutation_p.S503L|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.672																																					Melanoma(55;1800 1972 14909)												0													62.0	68.0	66.0					5																	140229588		2196	4271	6467	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1508C>T	5.37:g.140229588C>T	ENSP00000436042:p.Ser503Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S503L	ENST00000532602.1	37	c.1508	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	7.137	0.581054	0.13686	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.62105	0.05;0.05	3.56	-0.997	0.10215	Cadherin (4);Cadherin-like (1);	1.941730	0.04859	N	0.443742	T	0.43964	0.1271	N	0.25890	0.77	0.18873	N	0.999984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16424	-1.0403	10	0.30854	T	0.27	.	2.5496	0.04745	0.1252:0.4765:0.124:0.2742	.	503;503	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	503	ENSP00000436042:S503L;ENSP00000367362:S503L	ENSP00000367362:S503L	S	+	2	0	PCDHA9	140209772	0.005000	0.15991	0.954000	0.39281	0.275000	0.26752	0.140000	0.16056	-0.022000	0.13986	0.306000	0.20318	TCG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140229588	+1	no_errors	ENST00000532602	ensembl	human	known	70_37	missense	SNP	0.584	T
PCDHA13	56136	genome.wustl.edu	37	5	140262422	140262422	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140262422C>G	ENST00000289272.2	+	1	569	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S190C|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAAATGTCTTCATTATCA	0.438																																					Melanoma(147;1739 1852 5500 27947 37288)												0													83.0	83.0	83.0					5																	140262422		2203	4300	6503	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.569C>G	5.37:g.140262422C>G	ENSP00000289272:p.Ser190Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S190C	ENST00000289272.2	37	c.569	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	9.384	1.073819	0.20147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52754	0.65;0.71	5.34	2.37	0.29283	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56529	0.1991	L	0.55213	1.73	0.09310	N	1	B;B;D	0.56035	0.034;0.076;0.974	B;B;D	0.68765	0.264;0.107;0.96	T	0.43196	-0.9406	9	0.87932	D	0	.	3.5814	0.07955	0.4102:0.3839:0.1224:0.0835	.	190;190;190	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	190	ENSP00000386821:S190C;ENSP00000289272:S190C	ENSP00000289272:S190C	S	+	2	0	PCDHA13	140242606	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.117000	0.15583	0.608000	0.30000	0.491000	0.48974	TCT	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140262422	+1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense	SNP	0.000	G
PCDHA13	56136	genome.wustl.edu	37	5	140262469	140262469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140262469C>T	ENST00000289272.2	+	1	616	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.Q206*|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAAATTCAGGAACATAG	0.448																																					Melanoma(147;1739 1852 5500 27947 37288)												0													63.0	65.0	65.0					5																	140262469		2203	4300	6503	SO:0001587	stop_gained	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.616C>T	5.37:g.140262469C>T	ENSP00000289272:p.Gln206*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75277	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q206*	ENST00000289272.2	37	c.616	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847196	0.71603	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	.	.	.	5.58	0.375	0.16188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	7.632	0.28245	0.1191:0.3519:0.4632:0.0658	.	.	.	.	X	206	.	ENSP00000289272:Q206X	Q	+	1	0	PCDHA13	140242653	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	-1.398000	0.02509	-0.238000	0.09724	-0.305000	0.09177	CAG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140262469	+1	no_errors	ENST00000289272	ensembl	human	known	70_37	nonsense	SNP	0.000	T
PCDHB7	56129	genome.wustl.edu	37	5	140554795	140554795	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140554795C>T	ENST00000231137.3	+	1	2553	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	793					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)			ATTTGGGTTTCTGATAAAGAA	0.403																																																	0													41.0	59.0	53.0					5																	140554795		2202	4300	6502	SO:0001819	synonymous_variant	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.2379C>T	5.37:g.140554795C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F793	ENST00000231137.3	37	c.2379	CCDS4249.1	5																																																																																			PCDHB7	-	NULL		0.403	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140554795	+1	no_errors	ENST00000231137	ensembl	human	known	70_37	silent	SNP	0.017	T
PCDHB12	56124	genome.wustl.edu	37	5	140589356	140589356	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140589356G>C	ENST00000239450.2	+	1	1066	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGACATTTGAAATTAATCA	0.413																																																	0													84.0	90.0	88.0					5																	140589356		2203	4300	6503	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.877G>C	5.37:g.140589356G>C	ENSP00000239450:p.Glu293Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E293Q	ENST00000239450.2	37	c.877	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.539386	0.00942	.	.	ENSG00000120328	ENST00000239450	T	0.53206	0.63	4.06	-0.216	0.13153	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20251	0.0487	N	0.12527	0.23	0.37406	D	0.913031	B	0.16166	0.016	B	0.24006	0.05	T	0.30851	-0.9964	9	0.05436	T	0.98	.	3.888	0.09107	0.518:0.1954:0.2866:0.0	.	293	Q9Y5F1	PCDBC_HUMAN	Q	293	ENSP00000239450:E293Q	ENSP00000239450:E293Q	E	+	1	0	PCDHB12	140569540	0.000000	0.05858	0.151000	0.22473	0.494000	0.33585	-1.463000	0.02361	0.299000	0.22661	0.491000	0.48974	GAA	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.413	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	G	NM_018932		140589356	+1	no_errors	ENST00000239450	ensembl	human	known	70_37	missense	SNP	0.068	C
PCDHB15	56121	genome.wustl.edu	37	5	140626409	140626409	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140626409C>T	ENST00000231173.3	+	1	1263	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I421I(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCACCATCACCATCACAG	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)											103.0	95.0	98.0					5																	140626409		2203	4300	6503	SO:0001819	synonymous_variant	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1263C>T	5.37:g.140626409C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I421	ENST00000231173.3	37	c.1263	CCDS4257.1	5																																																																																			PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	C	NM_018935		140626409	+1	no_errors	ENST00000231173	ensembl	human	known	70_37	silent	SNP	0.006	T
PCDHGA2	56113	genome.wustl.edu	37	5	140719441	140719441	+	Silent	SNP	G	G	A	rs141252229		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140719441G>A	ENST00000394576.2	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGAACTGACAATCATAA	0.428													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20052	0.0		0.0	False		,,,				2504	0.0																0								G	,,	15,4391		0,15,2188	144.0	155.0	151.0		,903,903	-0.3	0.0	5	dbSNP_134	151	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	,,	,301/933,301/824	140719441	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.903G>A	5.37:g.140719441G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L301	ENST00000394576.2	37	c.903	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140719441	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.019	A
PCDHGB3	56102	genome.wustl.edu	37	5	140750772	140750772	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140750772G>A	ENST00000576222.1	+	1	942	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	271	Cadherin 3. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACATGGATGAGGGCATCAA	0.473																																																	0													102.0	106.0	105.0					5																	140750772		2092	4228	6320	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.811G>A	5.37:g.140750772G>A	ENSP00000461862:p.Glu271Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E271K	ENST00000576222.1	37	c.811	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.473	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	G	NM_018924		140750772	+1	no_errors	ENST00000576222	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDH12	51294	genome.wustl.edu	37	5	141336211	141336211	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141336211C>T	ENST00000231484.3	-	1	2416	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTTCTTTTCAGCCTGAAGT	0.488																																																	0													139.0	127.0	131.0					5																	141336211		2203	4300	6503	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1206G>A	5.37:g.141336211C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L402	ENST00000231484.3	37	c.1206	CCDS4269.1	5																																																																																			PCDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	C	NM_016580		141336211	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	silent	SNP	0.999	T
PCED1B	91523	genome.wustl.edu	37	12	47629733	47629733	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:47629733C>T	ENST00000546455.1	+	4	1618	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.S296F			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	296	Pro-rich.						hydrolase activity (GO:0016787)	p.S296Y(1)									cccttaccttcccccacatac	0.637																																																	1	Substitution - Missense(1)	kidney(1)											25.0	28.0	27.0					12																	47629733		2203	4299	6502	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.887C>T	12.37:g.47629733C>T	ENSP00000446688:p.Ser296Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.S296F	ENST00000546455.1	37	c.887	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607882	0.28623	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T	0.31510	1.49;1.49	4.38	-0.977	0.10282	.	5.542930	0.00397	N	0.000050	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12344	-1.0551	10	0.26408	T	0.33	.	4.1104	0.10057	0.0:0.3484:0.3361:0.3156	.	296	Q96HM7	F113B_HUMAN	F	296;296;176;176	ENSP00000446688:S296F;ENSP00000396040:S296F	ENSP00000328560:S176F	S	+	2	0	FAM113B	45916000	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.305000	0.08188	-0.174000	0.10743	0.655000	0.94253	TCC	PCED1B	-	NULL		0.637	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	C	NM_138371		47629733	+1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.000	T
PCID2	55795	genome.wustl.edu	37	13	113835480	113835480	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:113835480C>T	ENST00000337344.4	-	10	826	c.750G>A	c.(748-750)atG>atA	p.M250I	PCID2_ENST00000246505.5_Missense_Mutation_p.M304I|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_Missense_Mutation_p.M248I|PCID2_ENST00000375477.1_Missense_Mutation_p.M250I|PCID2_ENST00000375457.2_Missense_Mutation_p.M248I|PCID2_ENST00000375479.2_Missense_Mutation_p.M250I	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	250					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGATCAGAATCATCCTTTTGT	0.423																																																	0													149.0	129.0	136.0					13																	113835480		2203	4300	6503	SO:0001583	missense	55795			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.750G>A	13.37:g.113835480C>T	ENSP00000337405:p.Met250Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.M304I	ENST00000337344.4	37	c.912	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613833	0.66672	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.25	5.25	0.73442	PCI/PINT associated module (1);	0.042155	0.85682	D	0.000000	T	0.64918	0.2642	L	0.60845	1.875	0.80722	D	1	B;B	0.18310	0.027;0.001	B;B	0.16289	0.015;0.004	T	0.60378	-0.7275	9	0.29301	T	0.29	-38.0358	18.867	0.92296	0.0:1.0:0.0:0.0	.	304;250	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	I	250;250;250;304;248;248;227;250;227	.	ENSP00000246505:M304I	M	-	3	0	PCID2	112883481	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	5.856000	0.69518	2.445000	0.82738	0.563000	0.77884	ATG	PCID2	-	smart_PAM		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	C	NM_018386		113835480	-1	no_errors	ENST00000246505	ensembl	human	known	70_37	missense	SNP	1.000	T
PCM1	5108	genome.wustl.edu	37	8	17843594	17843594	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:17843594G>C	ENST00000519253.1	+	26	4659	c.4408G>C	c.(4408-4410)Gat>Cat	p.D1470H	PCM1_ENST00000524226.1_Missense_Mutation_p.D1416H|PCM1_ENST00000327578.8_Missense_Mutation_p.D169H|PCM1_ENST00000325083.8_Missense_Mutation_p.D1470H			Q15154	PCM1_HUMAN	pericentriolar material 1	1470	Interaction with HAP1.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TACTACTGATGATGTAAGCTG	0.318			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													79.0	76.0	77.0					8																	17843594		1824	4078	5902	SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4408G>C	8.37:g.17843594G>C	ENSP00000431099:p.Asp1470His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.D1470H	ENST00000519253.1	37	c.4408		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.95|16.95	3.263046|3.263046	0.59431|0.59431	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.159504|.	0.56097|.	D|.	0.000032|.	T|T	0.69196|0.69196	0.3084|0.3084	L|L	0.47716|0.47716	1.5|1.5	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D;D;D|.	0.87578|.	0.98;0.98;0.998;0.98;0.98;0.984;0.98|.	T|T	0.64795|0.64795	-0.6323|-0.6323	10|5	0.72032|.	D|.	0.01|.	-25.4447|-25.4447	18.9693|18.9693	0.92708|0.92708	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1470;1470;277;1470;1415;1416;1470|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|I	1470;1470;1416;169|209	ENSP00000327077:D1470H;ENSP00000431099:D1470H;ENSP00000430521:D1416H;ENSP00000328332:D169H|.	ENSP00000327077:D1470H|.	D|M	+|+	1|3	0|0	PCM1|PCM1	17887874|17887874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.506000|6.506000	0.73712|0.73712	2.790000|2.790000	0.95986|0.95986	0.650000|0.650000	0.86243|0.86243	GAT|ATG	PCM1	-	NULL		0.318	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	G	NM_006197		17843594	+1	no_errors	ENST00000325083	ensembl	human	known	70_37	missense	SNP	1.000	C
PCNX	22990	genome.wustl.edu	37	14	71568837	71568837	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:71568837C>G	ENST00000304743.2	+	31	6166	c.5720C>G	c.(5719-5721)tCt>tGt	p.S1907C	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S1835C|PCNX_ENST00000439984.3_Missense_Mutation_p.S1796C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1907						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTGCCAACTCTCCCTCCTTG	0.488																																																	0													118.0	113.0	115.0					14																	71568837		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5720C>G	14.37:g.71568837C>G	ENSP00000304192:p.Ser1907Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.S1907C	ENST00000304743.2	37	c.5720	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.972950|3.972950	0.74246|0.74246	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	5.56|5.56	4.64|4.64	0.57946|0.57946	.|.	.|0.107270	.|0.64402	.|D	.|0.000003	T|T	0.48409|0.48409	0.1498|0.1498	N|N	0.19112|0.19112	0.55|0.55	0.25506|0.25506	N|N	0.987503|0.987503	.|D;D;D	.|0.71674	.|0.989;0.995;0.998	.|P;D;P	.|0.67231	.|0.723;0.95;0.903	T|T	0.44360|0.44360	-0.9333|-0.9333	5|10	.|0.66056	.|D	.|0.02	.|.	15.8479|15.8479	0.78905|0.78905	0.1361:0.8639:0.0:0.0|0.1361:0.8639:0.0:0.0	.|.	.|1835;1796;1907	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|C	894|1907;1835;1796	.|ENSP00000304192:S1907C;ENSP00000238570:S1835C;ENSP00000396617:S1796C	.|ENSP00000238570:S1835C	L|S	+|+	1|2	0|0	PCNX|PCNX	70638590|70638590	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.914000|0.914000	0.54420|0.54420	5.721000|5.721000	0.68477|0.68477	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CTC|TCT	PCNX	-	pfam_Pecanex		0.488	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	C	NM_014982		71568837	+1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	0.997	G
PCOLCE	5118	genome.wustl.edu	37	7	100204157	100204157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100204157C>T	ENST00000223061.5	+	6	1124	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	282					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAAAGAAGGGCAAGGGCCCGG	0.592																																																	0													47.0	48.0	48.0					7																	100204157		2203	4300	6503	SO:0001587	stop_gained	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.844C>T	7.37:g.100204157C>T	ENSP00000223061:p.Gln282*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9E1|O14550	Nonsense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.Q282*	ENST00000223061.5	37	c.844	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.625271	0.96671	.	.	ENSG00000106333	ENST00000223061	.	.	.	4.65	1.68	0.24146	.	3.208440	0.01527	U	0.018618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	0.2765	2.2417	0.04021	0.1992:0.4943:0.1937:0.1128	.	.	.	.	X	282	.	ENSP00000223061:Q282X	Q	+	1	0	PCOLCE	100042093	0.007000	0.16637	0.006000	0.13384	0.410000	0.31052	-0.153000	0.10144	1.141000	0.42275	0.462000	0.41574	CAA	PCOLCE	-	NULL		0.592	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	C	NM_002593		100204157	+1	no_errors	ENST00000223061	ensembl	human	known	70_37	nonsense	SNP	0.003	T
PCSK5	5125	genome.wustl.edu	37	9	78638713	78638713	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:78638713G>C	ENST00000545128.1	+	4	1009	c.471G>C	c.(469-471)aaG>aaC	p.K157N	PCSK5_ENST00000376767.3_Missense_Mutation_p.K157N|PCSK5_ENST00000376752.4_Missense_Mutation_p.K157N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	157					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGCCTGGAAGAGAGGCTACA	0.458																																																	0													159.0	141.0	147.0					9																	78638713		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.471G>C	9.37:g.78638713G>C	ENSP00000446280:p.Lys157Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.K157N	ENST00000545128.1	37	c.471	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399193	0.42512	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.74	4.84	0.62591	.	.	.	.	.	T	0.47673	0.1458	L	0.57536	1.79	0.46927	D	0.999256	B;B	0.28439	0.185;0.212	B;B	0.34652	0.187;0.058	T	0.51172	-0.8739	9	0.72032	D	0.01	.	10.923	0.47176	0.1428:0.0:0.8572:0.0	.	157;157	Q92824-2;B1AMG5	.;.	N	157	ENSP00000446280:K157N;ENSP00000365958:K157N;ENSP00000365943:K157N	ENSP00000365943:K157N	K	+	3	2	PCSK5	77828533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.275000	0.65575	1.561000	0.49584	0.561000	0.74099	AAG	PCSK5	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78638713	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78936491	78936491	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:78936491G>A	ENST00000545128.1	+	30	4495	c.3957G>A	c.(3955-3957)gtG>gtA	p.V1319V		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1319	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACGTGGCTGTGAAGGGGGTAT	0.557																																																	0													109.0	89.0	95.0					9																	78936491		876	1991	2867	SO:0001819	synonymous_variant	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3957G>A	9.37:g.78936491G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.V1319	ENST00000545128.1	37	c.3957	CCDS55320.1	9																																																																																			PCSK5	-	superfamily_Growth_fac_rcpt		0.557	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78936491	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	silent	SNP	0.988	A
PDE1A	5136	genome.wustl.edu	37	2	183070752	183070752	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:183070752C>G	ENST00000410103.1	-	9	948	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	PDE1A_ENST00000358139.2_Missense_Mutation_p.E289Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.E289Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E289Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.E255Q|PDE1A_ENST00000536095.1_Missense_Mutation_p.E185Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E273Q|PDE1A_ENST00000435564.1_Missense_Mutation_p.E289Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.E273Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	289	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGGTGATTCTCAAGGACAGAG	0.358																																																	0													86.0	80.0	82.0					2																	183070752		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.865G>C	2.37:g.183070752C>G	ENSP00000387037:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E289Q	ENST00000410103.1	37	c.865	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.077606	0.94000	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	H	0.97732	4.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.994;0.999	D	0.97642	1.0149	10	0.87932	D	0	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	185;255;289;273;289	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	Q	289;255;185;273;289;273;289;289;289	ENSP00000410309:E289Q;ENSP00000329112:E255Q;ENSP00000439938:E185Q;ENSP00000386767:E273Q;ENSP00000331574:E289Q;ENSP00000309269:E273Q;ENSP00000387037:E289Q;ENSP00000350858:E289Q;ENSP00000408874:E289Q	ENSP00000331574:E289Q	E	-	1	0	PDE1A	182778997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	GAG	PDE1A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	C			183070752	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	missense	SNP	1.000	G
PDE3A	5139	genome.wustl.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																																	1	Substitution - coding silent(1)	urinary_tract(1)											26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L275	ENST00000359062.3	37	c.825	CCDS31754.1	12																																																																																			PDE3A	-	NULL		0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	G			20523043	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	silent	SNP	0.011	A
PDE4DIP	9659	genome.wustl.edu	37	1	144856866	144856866	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:144856866G>C	ENST00000369354.3	-	40	6808	c.6619C>G	c.(6619-6621)Ctt>Gtt	p.L2207V	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L2343V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2292V|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L2207V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L2101V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2207					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATCTCACAAGAGACACTATC	0.517			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													36.0	30.0	32.0					1																	144856866		2202	4287	6489	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6619C>G	1.37:g.144856866G>C	ENSP00000358360:p.Leu2207Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L2207V	ENST00000369354.3	37	c.6619	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.009835	0.35415	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.81;4.79;4.79;4.81	4.52	2.6	0.31112	.	.	.	.	.	T	0.00875	0.0029	M	0.72479	2.2	0.09310	N	1	B;B	0.32245	0.356;0.361	B;B	0.34452	0.164;0.183	T	0.48885	-0.8995	9	0.30078	T	0.28	.	3.6142	0.08071	0.0942:0.1658:0.5693:0.1708	.	2101;2207	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2101;2207;2207;2292;2343	ENSP00000327209:L2101V;ENSP00000358360:L2207V;ENSP00000358363:L2207V;ENSP00000435654:L2292V;ENSP00000358366:L2343V	ENSP00000327209:L2101V	L	-	1	0	PDE4DIP	143568223	0.286000	0.24305	0.001000	0.08648	0.018000	0.09664	1.137000	0.31479	0.441000	0.26529	0.455000	0.32223	CTT	PDE4DIP	-	NULL		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144856866	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.002	C
PDE4DIP	9659	genome.wustl.edu	37	1	144931628	144931628	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:144931628G>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Silent_p.L27L|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313431.9_Silent_p.L27L|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTGGAGATTGAGCTTGGACG	0.572			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													65.0	64.0	64.0					1																	144931628		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7807C>G	1.37:g.144931628G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	superfamily_ARM-type_fold	p.L27	ENST00000369354.3	37	c.81	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144931628	-1	no_errors	ENST00000313431	ensembl	human	known	70_37	silent	SNP	1.000	C
PDE6B	5158	genome.wustl.edu	37	4	657609	657609	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:657609C>A	ENST00000496514.1	+	16	1992	c.1971C>A	c.(1969-1971)atC>atA	p.I657I	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.I657I|PDE6B_ENST00000429163.2_Silent_p.I378I			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	657					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AGCACGTGATCCACCTGATGG	0.682																																					GBM(71;463 1194 9848 25922 46834)												0													49.0	47.0	48.0					4																	657609		2203	4300	6503	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1971C>A	4.37:g.657609C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.I657	ENST00000496514.1	37	c.1971	CCDS33932.1	4																																																																																			PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.682	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	C	NM_000283		657609	+1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	1.000	A
PDGFRB	5159	genome.wustl.edu	37	5	149504303	149504303	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149504303G>C	ENST00000261799.4	-	13	2368	c.1899C>G	c.(1897-1899)gtC>gtG	p.V633V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	633	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCATCTTGACGGCCACTT	0.622			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													47.0	47.0	47.0					5																	149504303		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1899C>G	5.37:g.149504303G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A957|Q8N5L4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.V633	ENST00000261799.4	37	c.1899	CCDS4303.1	5																																																																																			PDGFRB	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149504303	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	silent	SNP	1.000	C
PDK1	5163	genome.wustl.edu	37	2	173451093	173451093	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:173451093G>C	ENST00000282077.3	+	9	1215	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	PDK1_ENST00000543905.1_Missense_Mutation_p.E269Q|PDK1_ENST00000410055.1_Missense_Mutation_p.E345Q|PDK1_ENST00000392571.2_Missense_Mutation_p.E365Q|PDK1_ENST00000544863.1_Missense_Mutation_p.E190Q			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	345	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ACCTCGTGTTGAGACCTCCCG	0.433									Autosomal Dominant Polycystic Kidney Disease																																								0													113.0	95.0	101.0					2																	173451093		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1033G>C	2.37:g.173451093G>C	ENSP00000282077:p.Glu345Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E345Q	ENST00000282077.3	37	c.1033	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503014	0.64298	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.66995	0.79;-0.24;1.09;1.07;1.09	5.3	5.3	0.74995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.046702	0.85682	D	0.000000	T	0.76335	0.3973	M	0.79475	2.455	0.80722	D	1	B;P	0.40553	0.258;0.721	B;P	0.48089	0.137;0.566	T	0.75062	-0.3450	10	0.33141	T	0.24	-8.748	18.9633	0.92685	0.0:0.0:1.0:0.0	.	345;365	Q15118;E9PD65	PDK1_HUMAN;.	Q	269;190;345;365;345	ENSP00000438567:E269Q;ENSP00000437502:E190Q;ENSP00000282077:E345Q;ENSP00000376352:E365Q;ENSP00000386985:E345Q	ENSP00000282077:E345Q	E	+	1	0	PDK1	173159339	1.000000	0.71417	0.814000	0.32528	0.618000	0.37518	9.775000	0.98995	2.485000	0.83878	0.557000	0.71058	GAG	PDK1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.433	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	HGNC	protein_coding	OTTHUMT00000255380.3	G	NM_002610		173451093	+1	no_errors	ENST00000282077	ensembl	human	known	70_37	missense	SNP	1.000	C
PDLIM5	10611	genome.wustl.edu	37	4	95444881	95444881	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:95444881G>C	ENST00000317968.4	+	3	239	c.103G>C	c.(103-105)Gat>Cat	p.D35H	PDLIM5_ENST00000508216.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000514743.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000538141.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000380180.3_Missense_Mutation_p.D35H|PDLIM5_ENST00000450793.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000318007.5_Missense_Mutation_p.D35H	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	35	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACAGCTAAAAGATGGCGGCAA	0.348																																																	0													70.0	68.0	68.0					4																	95444881		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.103G>C	4.37:g.95444881G>C	ENSP00000321746:p.Asp35His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.D35H	ENST00000317968.4	37	c.103	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.411890|4.411890	0.83340|0.83340	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743|ENST00000513341	T;T;T;T;T;T;T;T;T|T	0.39997|0.30981	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05|1.51	5.96|5.96	5.96|5.96	0.96718|0.96718	PDZ/DHR/GLGF (4);|.	0.054531|.	0.64402|.	D|.	0.000001|.	T|T	0.60547|0.60547	0.2277|0.2277	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.993|.	D;D;D;D;D;D|.	0.91635|.	0.999;0.993;0.997;0.987;0.967;0.987|.	T|T	0.63668|0.63668	-0.6585|-0.6585	10|7	0.45353|0.87932	T|D	0.12|0	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	35;35;35;35;35;35|.	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3|.	.;.;PDLI5_HUMAN;.;.;.|.	H|N	35|2	ENSP00000398469:D35H;ENSP00000369527:D35H;ENSP00000322021:D35H;ENSP00000401579:D35H;ENSP00000439795:D35H;ENSP00000321746:D35H;ENSP00000424297:D35H;ENSP00000426804:D35H;ENSP00000424360:D35H|ENSP00000429577:K2N	ENSP00000321746:D35H|ENSP00000429577:K2N	D|K	+|+	1|3	0|2	PDLIM5|PDLIM5	95663904|95663904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAT|AAG	PDLIM5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.348	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	G			95444881	+1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	1.000	C
PDLIM5	10611	genome.wustl.edu	37	4	95444938	95444938	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:95444938G>C	ENST00000317968.4	+	3	296	c.160G>C	c.(160-162)Gat>Cat	p.D54H	PDLIM5_ENST00000508216.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000514743.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000538141.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000380180.3_Missense_Mutation_p.D54H|PDLIM5_ENST00000450793.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000318007.5_Missense_Mutation_p.D54H	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	54	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCTCAGCATTGATGGAATAAA	0.398																																																	0													125.0	116.0	119.0					4																	95444938		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.160G>C	4.37:g.95444938G>C	ENSP00000321746:p.Asp54His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.D54H	ENST00000317968.4	37	c.160	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.132913|4.132913	0.77662|0.77662	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743|ENST00000513341	T;T;T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	5.96|5.96	5.96|5.96	0.96718|0.96718	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86606|0.86606	0.5973|0.5973	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	P;D;P;D;P;B|.	0.76494|.	0.919;0.999;0.531;0.999;0.95;0.003|.	P;D;B;D;P;B|.	0.75020|.	0.88;0.964;0.376;0.985;0.824;0.067|.	D|D	0.88279|0.88279	0.2935|0.2935	10|5	0.87932|.	D|.	0|.	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	54;54;54;54;54;54|.	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3|.	.;.;PDLI5_HUMAN;.;.;.|.	H|F	54|21	ENSP00000398469:D54H;ENSP00000369527:D54H;ENSP00000322021:D54H;ENSP00000401579:D54H;ENSP00000439795:D54H;ENSP00000321746:D54H;ENSP00000424297:D54H;ENSP00000426804:D54H;ENSP00000424360:D54H|.	ENSP00000321746:D54H|.	D|L	+|+	1|3	0|2	PDLIM5|PDLIM5	95663961|95663961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.936000|5.936000	0.70153|0.70153	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAT|TTG	PDLIM5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	G			95444938	+1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	1.000	C
PDZD2	23037	genome.wustl.edu	37	5	32074402	32074402	+	Nonsense_Mutation	SNP	G	G	T	rs369858348		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:32074402G>T	ENST00000438447.1	+	18	3578	c.3190G>T	c.(3190-3192)Gag>Tag	p.E1064*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.E1064*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1064					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGACTCTGCAGAGGCCCCCAA	0.567																																																	0													102.0	119.0	113.0					5																	32074402		2203	4300	6503	SO:0001587	stop_gained	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3190G>T	5.37:g.32074402G>T	ENSP00000402033:p.Glu1064*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXD4	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1064*	ENST00000438447.1	37	c.3190	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.970964	0.99021	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.12	-0.47	0.12131	.	1.599050	0.03605	N	0.234021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.4372	0.11555	0.5065:0.1774:0.3161:0.0	.	.	.	.	X	1064;866;1064	.	ENSP00000282493:E1064X	E	+	1	0	PDZD2	32110159	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.099000	0.15210	0.025000	0.15241	-0.217000	0.12591	GAG	PDZD2	-	NULL		0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32074402	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	nonsense	SNP	0.000	T
PDZD3	79849	genome.wustl.edu	37	11	119058009	119058009	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:119058009C>T	ENST00000531114.1	+	3	1108	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	PDZD3_ENST00000392817.2_Missense_Mutation_p.R187W|PDZD3_ENST00000525131.1_Missense_Mutation_p.R108W|PDZD3_ENST00000355547.5_Missense_Mutation_p.R121W|PDZD3_ENST00000322712.4_Missense_Mutation_p.R121W			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	187	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CAGCAGCCCTCGGGTGTTGCT	0.652																																																	0													20.0	19.0	20.0					11																	119058009		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.559C>T	11.37:g.119058009C>T	ENSP00000431164:p.Arg187Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R187W	ENST00000531114.1	37	c.559		11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040969	0.75732	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.66	2.52	0.30459	PDZ/DHR/GLGF (4);	0.208991	0.43110	D	0.000619	T	0.51075	0.1653	M	0.67700	2.07	0.40909	D	0.984212	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.991;0.994;0.985;0.991	T	0.56335	-0.7996	10	0.72032	D	0.01	-27.3883	13.0077	0.58715	0.4236:0.5763:0.0:0.0	.	108;187;121;121	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	W	108;187;121;121;121;187	ENSP00000434559:R108W;ENSP00000431164:R187W;ENSP00000347742:R121W;ENSP00000327107:R121W;ENSP00000376564:R187W	ENSP00000327107:R121W	R	+	1	2	PDZD3	118563219	0.837000	0.29446	0.994000	0.49952	0.880000	0.50808	1.314000	0.33597	0.699000	0.31761	-0.182000	0.12963	CGG	PDZD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.652	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	C	NM_024791		119058009	+1	no_errors	ENST00000392817	ensembl	human	known	70_37	missense	SNP	0.983	T
PDZD8	118987	genome.wustl.edu	37	10	119043870	119043870	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:119043870G>C	ENST00000334464.5	-	5	2613	c.2374C>G	c.(2374-2376)Cac>Gac	p.H792D	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	792					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATTTGAAGTGAATAGTAATG	0.393																																																	0													80.0	79.0	79.0					10																	119043870		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2374C>G	10.37:g.119043870G>C	ENSP00000334642:p.His792Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.H792D	ENST00000334464.5	37	c.2374	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.158110	0.00321	.	.	ENSG00000165650	ENST00000334464	D	0.85171	-1.95	5.62	3.64	0.41730	.	0.270563	0.40640	N	0.001043	T	0.74959	0.3785	N	0.24115	0.695	0.22185	N	0.999304	B	0.17038	0.02	B	0.19148	0.024	T	0.60747	-0.7202	10	0.25751	T	0.34	-8.0214	13.3179	0.60417	0.0:0.0:0.5917:0.4083	.	792	Q8NEN9	PDZD8_HUMAN	D	792	ENSP00000334642:H792D	ENSP00000334642:H792D	H	-	1	0	PDZD8	119033860	1.000000	0.71417	0.956000	0.39512	0.952000	0.60782	4.044000	0.57361	1.360000	0.45960	-0.309000	0.09137	CAC	PDZD8	-	NULL		0.393	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	G	NM_173791		119043870	-1	no_errors	ENST00000334464	ensembl	human	known	70_37	missense	SNP	0.425	C
PEG10	23089	genome.wustl.edu	37	7	94298361	94298361	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:94298361G>A	ENST00000482108.1	+	0	5972				PEG10_ENST00000465184.1_3'UTR	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGATGAGACTGAAAGTTCTTT	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	23089			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.*4515G>A	7.37:g.94298361G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96A68|Q9UPV1	RNA	SNP	-	NULL	ENST00000482108.1	37	NULL	CCDS55126.1	7																																																																																			PEG10	-	-		0.388	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	G	NM_015068		94298361	+1	no_errors	ENST00000465184	ensembl	human	known	70_37	rna	SNP	0.003	A
PEG3	5178	genome.wustl.edu	37	19	57325989	57325989	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:57325989C>G	ENST00000326441.9	-	10	4184	c.3821G>C	c.(3820-3822)aGa>aCa	p.R1274T	PEG3_ENST00000593695.1_Missense_Mutation_p.R1148T|PEG3_ENST00000423103.2_Missense_Mutation_p.R1274T|PEG3_ENST00000598410.1_Missense_Mutation_p.R1150T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1274					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTGACTTCTCTGAAACTC	0.453																																																	0													67.0	58.0	61.0					19																	57325989		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3821G>C	19.37:g.57325989C>G	ENSP00000326581:p.Arg1274Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R1274T	ENST00000326441.9	37	c.3821	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270911	0.40194	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03496	3.91;3.91	4.18	3.15	0.36227	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.422602	0.18562	N	0.137583	T	0.03695	0.0105	N	0.24115	0.695	.	.	.	P;P;P	0.48694	0.914;0.671;0.722	B;B;B	0.43623	0.425;0.107;0.154	T	0.33624	-0.9861	9	0.66056	D	0.02	-8.0131	10.4126	0.44303	0.0:0.9024:0.0:0.0976	.	1150;1274;1209	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	1274	ENSP00000326581:R1274T;ENSP00000403051:R1274T	ENSP00000326581:R1274T	R	-	2	0	ZIM2	62017801	0.000000	0.05858	0.149000	0.22428	0.758000	0.43043	0.519000	0.22862	1.357000	0.45904	0.655000	0.94253	AGA	PEG3	-	NULL		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57325989	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.901	G
PES1	23481	genome.wustl.edu	37	22	30975182	30975182	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:30975182G>A	ENST00000405677.1	-	15	1989	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PES1_ENST00000335214.6_Missense_Mutation_p.S483L|PES1_ENST00000354694.7_Missense_Mutation_p.S488L|PES1_ENST00000402281.1_Missense_Mutation_p.S349L|PES1_ENST00000402284.3_Missense_Mutation_p.S471L	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ctccttttctgaaccagcctc	0.577																																																	0													46.0	47.0	47.0					22																	30975182		2203	4300	6503	SO:0001583	missense	23481			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1046C>T	22.37:g.30975182G>A	ENSP00000385654:p.Ser349Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S488L	ENST00000405677.1	37	c.1463		22	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524653	0.27299	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.23950	1.88;1.89;1.89;1.88;1.88	4.15	2.01	0.26516	.	0.959980	0.08635	N	0.916475	T	0.21103	0.0508	L	0.46157	1.445	0.22127	N	0.999341	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.29640	-1.0005	10	0.33141	T	0.24	0.6655	5.1183	0.14847	0.1794:0.0:0.657:0.1635	.	488;471;483;488	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	L	488;349;349;471;483	ENSP00000346725:S488L;ENSP00000384366:S349L;ENSP00000385654:S349L;ENSP00000384252:S471L;ENSP00000334612:S483L	ENSP00000334612:S483L	S	-	2	0	PES1	29305182	0.671000	0.27521	0.005000	0.12908	0.784000	0.44337	2.113000	0.41902	0.329000	0.23460	0.563000	0.77884	TCA	PES1	-	NULL		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	G	NM_014303		30975182	-1	no_errors	ENST00000354694	ensembl	human	known	70_37	missense	SNP	0.157	A
PEX14	5195	genome.wustl.edu	37	1	10689811	10689811	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:10689811G>C	ENST00000356607.4	+	9	981	c.901G>C	c.(901-903)Ggg>Cgg	p.G301R	PEX14_ENST00000538836.1_Missense_Mutation_p.G237R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	301					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGCGAGGGGGTGGTGGA	0.652																																																	0													142.0	131.0	135.0					1																	10689811		2192	4289	6481	SO:0001583	missense	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.901G>C	1.37:g.10689811G>C	ENSP00000349016:p.Gly301Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.G301R	ENST00000356607.4	37	c.901	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175275	0.38413	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.26957	1.74;1.7	4.49	3.55	0.40652	.	0.547580	0.19503	N	0.112692	T	0.17492	0.0420	L	0.34521	1.04	0.29831	N	0.830029	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.10268	-1.0637	10	0.33940	T	0.23	.	7.3036	0.26434	0.1005:0.1731:0.7264:0.0	.	258;301	O75381-2;O75381	.;PEX14_HUMAN	R	301;237	ENSP00000349016:G301R;ENSP00000444877:G237R	ENSP00000349016:G301R	G	+	1	0	PEX14	10612398	1.000000	0.71417	0.987000	0.45799	0.898000	0.52572	6.223000	0.72257	0.972000	0.38314	0.563000	0.77884	GGG	PEX14	-	NULL		0.652	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	G			10689811	+1	no_errors	ENST00000356607	ensembl	human	known	70_37	missense	SNP	0.988	C
PEX19	5824	genome.wustl.edu	37	1	160249105	160249105	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:160249105G>C	ENST00000368072.5	-	0	1157				DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_3'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19						chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGAACTTTGATAGTGGCAG	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	5824			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.*236C>G	1.37:g.160249105G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE7|Q5QNY4|Q8NI97	RNA	SNP	-	NULL	ENST00000368072.5	37	NULL	CCDS1201.1	1																																																																																			PEX19	-	-		0.453	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX19	HGNC	protein_coding	OTTHUMT00000080642.2	G	NM_002857		160249105	-1	no_errors	ENST00000532508	ensembl	human	known	70_37	rna	SNP	0.762	C
PEX19	5824	genome.wustl.edu	37	1	160249182	160249182	+	3'UTR	DEL	G	G	-			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:160249182delG	ENST00000368072.5	-	0	1080				DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_3'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19						chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGAGACAGAGGAAAAACCTC	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	5824			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.*159C>-	1.37:g.160249182delG		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE7|Q5QNY4|Q8NI97	RNA	DEL	-	NULL	ENST00000368072.5	37	NULL	CCDS1201.1	1																																																																																			PEX19	-	-		0.517	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX19	HGNC	protein_coding	OTTHUMT00000080642.2	G	NM_002857		160249182	-1	no_errors	ENST00000532508	ensembl	human	known	70_37	rna	DEL	0.010	-
PEX2	5828	genome.wustl.edu	37	8	77895827	77895827	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:77895827G>C	ENST00000419564.2	-	4	1052	c.588C>G	c.(586-588)ctC>ctG	p.L196L	PEX2_ENST00000520103.1_Silent_p.L196L|PEX2_ENST00000357039.4_Silent_p.L196L|PEX2_ENST00000522527.1_Silent_p.L196L	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	196					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						AACCATGCCAGAGAAGTTCCC	0.388																																																	0													84.0	88.0	87.0					8																	77895827		2203	4300	6503	SO:0001819	synonymous_variant	5828			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.588C>G	8.37:g.77895827G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q567S6|Q9BW41	Silent	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.L196	ENST00000419564.2	37	c.588	CCDS6221.1	8																																																																																			PEX2	-	pfam_Pex_N		0.388	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	G	NM_000318		77895827	-1	no_errors	ENST00000357039	ensembl	human	known	70_37	silent	SNP	1.000	C
PEX5L	51555	genome.wustl.edu	37	3	179533760	179533760	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:179533760C>T	ENST00000467460.1	-	10	1302	c.972G>A	c.(970-972)aaG>aaA	p.K324K	PEX5L_ENST00000468741.1_Silent_p.K132K|PEX5L_ENST00000263962.8_Silent_p.K322K|PEX5L_ENST00000472994.1_Silent_p.K265K|PEX5L_ENST00000464614.1_Silent_p.K216K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Silent_p.K216K|PEX5L_ENST00000465751.1_Silent_p.K300K|PEX5L_ENST00000476138.1_Silent_p.K281K|PEX5L_ENST00000485199.1_Silent_p.K289K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	324					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGGCCAGTCCTTGAAGGGGT	0.453																																																	0													89.0	88.0	88.0					3																	179533760		2203	4300	6503	SO:0001819	synonymous_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.972G>A	3.37:g.179533760C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K324	ENST00000467460.1	37	c.972	CCDS3236.1	3																																																																																			PEX5L	-	NULL		0.453	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179533760	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	silent	SNP	1.000	T
PGAM5	192111	genome.wustl.edu	37	12	133297420	133297420	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:133297420C>T	ENST00000498926.2	+	0	934				PGAM5_ENST00000541034.1_3'UTR|PGAM5_ENST00000454808.2_3'UTR|PGAM5_ENST00000543955.1_3'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5						dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CCTGAGGGCTCCGGCCTCTCC	0.607																																																	0													35.0	41.0	39.0					12																	133297420		692	1591	2283	SO:0001624	3_prime_UTR_variant	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.*6C>T	12.37:g.133297420C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A9LN06|C9IZY7|Q96JB0	RNA	SNP	-	NULL	ENST00000498926.2	37	NULL	CCDS53845.1	12																																																																																			PGAM5	-	-		0.607	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM5	HGNC	protein_coding	OTTHUMT00000397562.1	C	NM_138575		133297420	+1	no_errors	ENST00000541034	ensembl	human	putative	70_37	rna	SNP	0.000	T
PGAP1	80055	genome.wustl.edu	37	2	197744874	197744874	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:197744874G>A	ENST00000354764.4	-	13	1390	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	PGAP1_ENST00000409475.1_Silent_p.L426L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	426					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTTAATGTCAGATACTAAAAT	0.269																																																	0													46.0	43.0	44.0					2																	197744874		2203	4298	6501	SO:0001819	synonymous_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1276C>T	2.37:g.197744874G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	pfam_PGAP1-like	p.L426	ENST00000354764.4	37	c.1276	CCDS2318.1	2																																																																																			PGAP1	-	NULL		0.269	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197744874	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	silent	SNP	0.998	A
PGM2L1	283209	genome.wustl.edu	37	11	74053662	74053662	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:74053662G>A	ENST00000298198.4	-	12	1787	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	492					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CATAACACAAGAAATAGGAAG	0.279																																																	0													73.0	84.0	80.0					11																	74053662		2199	4291	6490	SO:0001819	synonymous_variant	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1476C>T	11.37:g.74053662G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96MQ7|Q9UIK3	Silent	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.F492	ENST00000298198.4	37	c.1476	CCDS8231.1	11																																																																																			PGM2L1	-	NULL		0.279	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	G	NM_173582		74053662	-1	no_errors	ENST00000298198	ensembl	human	known	70_37	silent	SNP	1.000	A
PHF13	148479	genome.wustl.edu	37	1	6681563	6681563	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:6681563C>T	ENST00000377648.4	+	4	1151	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	257					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CACCTGGATTCACCTGTCCTG	0.542																																																	0													81.0	74.0	76.0					1																	6681563		2203	4300	6503	SO:0001583	missense	148479			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.769C>T	1.37:g.6681563C>T	ENSP00000366876:p.His257Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.H257Y	ENST00000377648.4	37	c.769	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897469	0.91962	.	.	ENSG00000116273	ENST00000377648	D	0.99005	-5.32	5.59	5.59	0.84812	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.98901	4.365	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97440	1.0021	10	0.87932	D	0	0.1016	18.5834	0.91180	0.0:1.0:0.0:0.0	.	257	Q86YI8	PHF13_HUMAN	Y	257	ENSP00000366876:H257Y	ENSP00000366876:H257Y	H	+	1	0	PHF13	6604150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.626000	0.88956	0.650000	0.86243	CAC	PHF13	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.542	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	C	NM_153812		6681563	+1	no_errors	ENST00000377648	ensembl	human	known	70_37	missense	SNP	1.000	T
PHACTR4	65979	genome.wustl.edu	37	1	28816356	28816356	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:28816356G>A	ENST00000373839.3	+	10	2077				PHACTR4_ENST00000373836.3_Intron|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTATTTGTGAGCATGTTCA	0.398																																																	0													124.0	120.0	121.0					1																	28816356		876	1991	2867	SO:0001627	intron_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1816+619G>A	1.37:g.28816356G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	RNA	SNP	-	NULL	ENST00000373839.3	37	NULL	CCDS41293.1	1																																																																																			PHACTR4	-	-		0.398	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	G	NM_023923		28816356	+1	no_errors	ENST00000493669	ensembl	human	known	70_37	rna	SNP	0.001	A
PHF3	23469	genome.wustl.edu	37	6	64408465	64408465	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:64408465G>C	ENST00000262043.3	+	8	3292	c.2952G>C	c.(2950-2952)ttG>ttC	p.L984F	PHF3_ENST00000393387.1_Missense_Mutation_p.L984F			Q92576	PHF3_HUMAN	PHD finger protein 3	984	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGAAGTTTGATGTTTAATT	0.318																																					GBM(135;136 1820 29512 34071 46235)												0													35.0	42.0	40.0					6																	64408465		2194	4290	6484	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2952G>C	6.37:g.64408465G>C	ENSP00000262043:p.Leu984Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	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.L984F	ENST00000262043.3	37	c.2952	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948321	0.34377	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.49	3.71	0.42584	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.32548	N	0.005959	T	0.53722	0.1814	M	0.80508	2.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.67231	0.95	T	0.59658	-0.7413	10	0.87932	D	0	-6.0628	6.3692	0.21471	0.2201:0.1381:0.6418:0.0	.	984	Q92576	PHF3_HUMAN	F	798;253;984;984	ENSP00000424694:L798F;ENSP00000425338:L253F;ENSP00000262043:L984F;ENSP00000377048:L984F	ENSP00000262043:L984F	L	+	3	2	PHF3	64466424	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.915000	0.39976	0.796000	0.33947	-0.439000	0.05793	TTG	PHF3	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M		0.318	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	G			64408465	+1	no_errors	ENST00000262043	ensembl	human	known	70_37	missense	SNP	1.000	C
PHLDA1	22822	genome.wustl.edu	37	12	76424317	76424317	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:76424317C>T	ENST00000266671.5	-	1	3395	c.1205G>A	c.(1204-1206)tGa>tAa	p.*402*	RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.*261*|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	0					apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTGCCCCTTTCAGGCAGAGTT	0.662																																																	0													55.0	54.0	55.0					12																	76424317		2203	4300	6503	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1205G>A	12.37:g.76424317C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	smart_Pleckstrin_homology	p.*402	ENST00000266671.5	37	c.1205	CCDS31861.1	12																																																																																			PHLDA1	-	NULL		0.662	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	HGNC	protein_coding	OTTHUMT00000405846.2	C	NM_007350		76424317	-1	no_errors	ENST00000266671	ensembl	human	known	70_37	silent	SNP	1.000	T
PHLDB2	90102	genome.wustl.edu	37	3	111603801	111603801	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:111603801C>T	ENST00000431670.2	+	2	1288	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	PHLDB2_ENST00000393925.3_Missense_Mutation_p.H293Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H320Y|PHLDB2_ENST00000478922.1_Missense_Mutation_p.H293Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H293Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.H293Y|PHLDB2_ENST00000477695.1_Missense_Mutation_p.H293Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	293						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATCTACCTCATAGCGTAAT	0.433																																																	0													66.0	66.0	66.0					3																	111603801		2203	4300	6503	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.877C>T	3.37:g.111603801C>T	ENSP00000405405:p.His293Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H293Y	ENST00000431670.2	37	c.877	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212915	0.58452	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.32272	1.46;1.48;1.47;1.48;1.48;1.47	5.4	5.4	0.78164	.	0.313426	0.35466	N	0.003187	T	0.34193	0.0889	L	0.29908	0.895	0.28738	N	0.902102	B;D;D;P;P	0.59767	0.347;0.986;0.962;0.61;0.826	B;P;P;B;B	0.51016	0.063;0.656;0.592;0.346;0.201	T	0.13522	-1.0506	10	0.51188	T	0.08	.	16.4564	0.84019	0.0:1.0:0.0:0.0	.	293;293;293;293;320	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	Y	320;320;293;293;293;293;293;293;293	ENSP00000377500:H320Y;ENSP00000405405:H293Y;ENSP00000405292:H293Y;ENSP00000418296:H293Y;ENSP00000377502:H293Y;ENSP00000418319:H293Y	ENSP00000352764:H320Y	H	+	1	0	PHLDB2	113086491	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.119000	0.64679	2.703000	0.92315	0.655000	0.94253	CAT	PHLDB2	-	NULL		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	C	NM_145753		111603801	+1	no_errors	ENST00000393925	ensembl	human	known	70_37	missense	SNP	1.000	T
PHYHIP	9796	genome.wustl.edu	37	8	22081786	22081786	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22081786G>A	ENST00000321613.3	-	5	867	c.411C>T	c.(409-411)ttC>ttT	p.F137F	PHYHIP_ENST00000454243.2_Silent_p.F137F	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	137										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGAAGACGGAGAAGCGGAGCA	0.627																																																	0													43.0	60.0	54.0					8																	22081786		2125	4239	6364	SO:0001819	synonymous_variant	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.411C>T	8.37:g.22081786G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSR1|Q8N4I9	Silent	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.F137	ENST00000321613.3	37	c.411	CCDS43723.1	8																																																																																			PHYHIP	-	NULL		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	G	NM_014759		22081786	-1	no_errors	ENST00000454243	ensembl	human	known	70_37	silent	SNP	1.000	A
PIK3C2B	5287	genome.wustl.edu	37	1	204438303	204438303	+	Missense_Mutation	SNP	C	C	T	rs144719096		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:204438303C>T	ENST00000367187.3	-	3	1184	c.628G>A	c.(628-630)Gag>Aag	p.E210K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E210K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	210	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACCTCTTCCTCTTCTAGGATC	0.527																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	184.0	214.0	204.0		628	4.2	0.9	1	dbSNP_134	204	0,8600		0,0,4300	no	missense	PIK3C2B	NM_002646.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	210/1635	204438303	1,13005	2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.628G>A	1.37:g.204438303C>T	ENSP00000356155:p.Glu210Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E210K	ENST00000367187.3	37	c.628	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082873	0.36758	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.16	5.14	4.2	0.49525	.	1.936550	0.02454	N	0.085865	T	0.47857	0.1468	N	0.24115	0.695	0.31809	N	0.627352	B;B	0.25272	0.122;0.075	B;B	0.22601	0.04;0.027	T	0.32613	-0.9900	10	0.12103	T	0.63	.	13.3569	0.60633	0.0:0.8415:0.1585:0.0	.	210;210	F5GWN5;O00750	.;P3C2B_HUMAN	K	210	ENSP00000356155:E210K;ENSP00000400561:E210K	ENSP00000356155:E210K	E	-	1	0	PIK3C2B	202704926	1.000000	0.71417	0.920000	0.36463	0.333000	0.28666	3.208000	0.51114	1.103000	0.41568	0.462000	0.41574	GAG	PIK3C2B	-	NULL		0.527	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204438303	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3C2G	5288	genome.wustl.edu	37	12	18515721	18515721	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:18515721G>C	ENST00000266497.5	+	11	1663				PIK3C2G_ENST00000535651.1_Missense_Mutation_p.C550S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.C550S|PIK3C2G_ENST00000433979.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma						chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTTTACCTGTTGGCTTACA	0.328																																																	0																																										SO:0001627	intron_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1626-8393G>C	12.37:g.18515721G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.C550S	ENST00000266497.5	37	c.1649	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450732	0.63290	.	.	ENSG00000139144	ENST00000535651;ENST00000538779	T;T	0.78003	0.89;-1.14	4.23	4.23	0.50019	.	.	.	.	.	D	0.86083	0.5848	.	.	.	0.30759	N	0.744285	D;D	0.76494	0.991;0.999	D;D	0.80764	0.991;0.994	T	0.83086	-0.0135	8	0.56958	D	0.05	.	12.4034	0.55426	0.0:0.0:1.0:0.0	.	549;550	B7ZLY6;F5H369	.;.	S	550	ENSP00000443850:C550S;ENSP00000445381:C550S	ENSP00000443850:C550S	C	+	2	0	PIK3C2G	18406988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.597000	0.61062	2.641000	0.89580	0.655000	0.94253	TGT	PIK3C2G	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.328	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18515721	+1	no_errors	ENST00000538779	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3R1	5295	genome.wustl.edu	37	5	67589255	67589255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67589255C>T	ENST00000521381.1	+	10	1859	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.Q145*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.Q52*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.Q415*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.Q115*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.Q415*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.Q415*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	415	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCTCTAGCTCAGTATAATCC	0.343			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											49.0	51.0	51.0					5																	67589255		2203	4297	6500	SO:0001587	stop_gained	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1243C>T	5.37:g.67589255C>T	ENSP00000428056:p.Gln415*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.Q415*	ENST00000521381.1	37	c.1243	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.247138	0.97408	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.1278	19.5751	0.95439	0.0:1.0:0.0:0.0	.	.	.	.	X	415;415;415;415;115;52;145;88;52	.	ENSP00000274335:Q415X	Q	+	1	0	PIK3R1	67625011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.932000	0.99384	0.644000	0.83932	CAG	PIK3R1	-	pfscan_SH2		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	C	NM_181504		67589255	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PIK3R1	5295	genome.wustl.edu	37	5	67589631	67589631	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67589631G>C	ENST00000521381.1	+	11	2010	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	PIK3R1_ENST00000336483.5_Missense_Mutation_p.R195T|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R102T|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R465T|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R165T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R465T|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R465T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	465					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAATATGATAGATTATATGAA	0.289			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											44.0	47.0	46.0					5																	67589631		2188	4267	6455	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1394G>C	5.37:g.67589631G>C	ENSP00000428056:p.Arg465Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R465T	ENST00000521381.1	37	c.1394	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709878	0.68730	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;T;T;T;T;D	0.81821	-0.41;-0.41;-0.29;-0.41;-1.44;0.9;-1.46;0.49;-1.54	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.61703	1.905	0.80722	D	1	B;B;B;B	0.34061	0.233;0.318;0.318;0.436	B;B;B;B	0.31614	0.062;0.084;0.133;0.102	T	0.75825	-0.3181	10	0.27082	T	0.32	-21.2042	19.0691	0.93125	0.0:0.0:1.0:0.0	.	135;195;165;465	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	T	465;465;465;465;165;102;195;138;102	ENSP00000428056:R465T;ENSP00000429277:R465T;ENSP00000379855:R465T;ENSP00000274335:R465T;ENSP00000323512:R165T;ENSP00000431058:R102T;ENSP00000338554:R195T;ENSP00000429156:R138T;ENSP00000430098:R102T	ENSP00000274335:R465T	R	+	2	0	PIK3R1	67625387	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.208000	0.95075	2.822000	0.97130	0.650000	0.86243	AGA	PIK3R1	-	superfamily_Guanylate-bd_C		0.289	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67589631	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3R1	5295	genome.wustl.edu	37	5	67591079	67591079	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67591079G>C	ENST00000521381.1	+	13	2288	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q	PIK3R1_ENST00000336483.5_Missense_Mutation_p.E288Q|PIK3R1_ENST00000523872.1_Missense_Mutation_p.E195Q|PIK3R1_ENST00000274335.5_Missense_Mutation_p.E558Q|PIK3R1_ENST00000320694.8_Missense_Mutation_p.E258Q|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E558Q|PIK3R1_ENST00000396611.1_Missense_Mutation_p.E558Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	558					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAGTATCGAGAAATTGACAA	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	3	Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											136.0	136.0	136.0					5																	67591079		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1672G>C	5.37:g.67591079G>C	ENSP00000428056:p.Glu558Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.E558Q	ENST00000521381.1	37	c.1672	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969093	0.74131	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.56199	1.76	0.80722	D	1	P;P;B;D	0.59357	0.686;0.49;0.322;0.985	B;B;B;P	0.56088	0.131;0.198;0.117;0.791	T	0.23190	-1.0195	10	0.40728	T	0.16	-24.8541	18.9011	0.92443	0.0:0.0:1.0:0.0	.	228;288;258;558	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	Q	558;558;558;558;258;288;195	ENSP00000428056:E558Q;ENSP00000429277:E558Q;ENSP00000379855:E558Q;ENSP00000274335:E558Q;ENSP00000323512:E258Q;ENSP00000338554:E288Q;ENSP00000430098:E195Q	ENSP00000274335:E558Q	E	+	1	0	PIK3R1	67626835	1.000000	0.71417	0.967000	0.41034	0.939000	0.58152	9.601000	0.98297	2.773000	0.95371	0.585000	0.79938	GAA	PIK3R1	-	prints_PI3kinase_P85		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67591079	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3R1	5295	genome.wustl.edu	37	5	67591128	67591128	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67591128G>T	ENST00000521381.1	+	13	2337	c.1721G>T	c.(1720-1722)aGa>aTa	p.R574I	PIK3R1_ENST00000336483.5_Missense_Mutation_p.R304I|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R211I|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R574I|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R274I|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R574I|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R574I	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	574					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R574_T576del(2)|p.R574T(2)|p.R574I(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.L570_D578del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCCAGCTGAGAAAGACGAGA	0.378			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	9	Substitution - Missense(3)|Deletion - In frame(3)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(2)|endometrium(2)|central_nervous_system(1)|urinary_tract(1)|lung(1)|breast(1)|ovary(1)											145.0	143.0	144.0					5																	67591128		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1721G>T	5.37:g.67591128G>T	ENSP00000428056:p.Arg574Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R574I	ENST00000521381.1	37	c.1721	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.293276	0.95546	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.84433	2.695	0.80722	D	1	D;P;P;D	0.61697	0.976;0.82;0.615;0.99	P;B;B;P	0.54346	0.682;0.256;0.164;0.749	T	0.67181	-0.5735	10	0.62326	D	0.03	-21.3567	18.2175	0.89890	0.0:0.0:1.0:0.0	.	244;304;274;574	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	I	574;574;574;574;274;304;211	ENSP00000428056:R574I;ENSP00000429277:R574I;ENSP00000379855:R574I;ENSP00000274335:R574I;ENSP00000323512:R274I;ENSP00000338554:R304I;ENSP00000430098:R211I	ENSP00000274335:R574I	R	+	2	0	PIK3R1	67626884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.601000	0.98297	2.601000	0.87937	0.585000	0.79938	AGA	PIK3R1	-	prints_PI3kinase_P85		0.378	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67591128	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3R4	30849	genome.wustl.edu	37	3	130463841	130463841	+	Silent	SNP	C	C	G	rs138406851		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:130463841C>G	ENST00000356763.3	-	2	779	c.222G>C	c.(220-222)ctG>ctC	p.L74L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|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)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCCTGATTTTCAGTTCCTCCA	0.453																																																	0													98.0	93.0	95.0					3																	130463841		2203	4300	6503	SO:0001819	synonymous_variant	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.222G>C	3.37:g.130463841C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TBF4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L74	ENST00000356763.3	37	c.222	CCDS3067.1	3																																																																																			PIK3R4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.453	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	C	NM_014602		130463841	-1	no_errors	ENST00000356763	ensembl	human	known	70_37	silent	SNP	1.000	G
PIP5K1C	23396	genome.wustl.edu	37	19	3648672	3648672	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:3648672C>T	ENST00000335312.3	-	9	1250	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	PIP5K1C_ENST00000587482.1_5'Flank|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E388K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E388K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E388K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	388	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCAGCCGCTCCCCGCGGCCG	0.687																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													34.0	37.0	36.0					19																	3648672		2199	4290	6489	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1162G>A	19.37:g.3648672C>T	ENSP00000335333:p.Glu388Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E388K	ENST00000335312.3	37	c.1162	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034545	0.75617	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.36157	1.27;1.27;1.27	4.04	4.04	0.47022	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.73217	2.22	0.58432	D	0.99999	P;P	0.50710	0.843;0.938	P;P	0.54664	0.62;0.758	T	0.60840	-0.7183	10	0.87932	D	0	-33.4158	15.1514	0.72703	0.0:1.0:0.0:0.0	.	388;388	O60331-3;O60331	.;PI51C_HUMAN	K	388	ENSP00000335333:E388K;ENSP00000445992:E388K;ENSP00000444779:E388K	ENSP00000335333:E388K	E	-	1	0	PIP5K1C	3599672	1.000000	0.71417	0.978000	0.43139	0.206000	0.24218	7.735000	0.84939	1.795000	0.52594	0.297000	0.19635	GAG	PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.687	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	C	NM_012398		3648672	-1	no_errors	ENST00000537021	ensembl	human	known	70_37	missense	SNP	1.000	T
PITPNM3	83394	genome.wustl.edu	37	17	6360959	6360959	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6360959G>A	ENST00000262483.8	-	19	2661	c.2574C>T	c.(2572-2574)atC>atT	p.I858I	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.I822I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	858					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCACAATGAAGATCTGGGAGG	0.607																																																	0													41.0	38.0	39.0					17																	6360959		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2574C>T	17.37:g.6360959G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.I858	ENST00000262483.8	37	c.2574	CCDS11076.1	17																																																																																			PITPNM3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.607	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	G	NM_031220		6360959	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	silent	SNP	1.000	A
PITPNM3	83394	genome.wustl.edu	37	17	6381313	6381313	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6381313C>A	ENST00000262483.8	-	8	969	c.882G>T	c.(880-882)ggG>ggT	p.G294G	PITPNM3_ENST00000421306.3_Silent_p.G258G	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	294	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGCTGATGCTCCCCTTCCGGC	0.682																																																	0													71.0	79.0	76.0					17																	6381313		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.882G>T	17.37:g.6381313C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.G294	ENST00000262483.8	37	c.882	CCDS11076.1	17																																																																																			PITPNM3	-	NULL		0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6381313	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	silent	SNP	0.997	A
PIWIL3	440822	genome.wustl.edu	37	22	25158460	25158460	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:25158460C>G	ENST00000332271.5	-	2	423	c.7G>C	c.(7-9)Ggt>Cgt	p.G3R	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	3					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.G3S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTGCCCTACCAGGCATTGTG	0.552																																																	1	Substitution - Missense(1)	breast(1)											69.0	64.0	66.0					22																	25158460		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.7G>C	22.37:g.25158460C>G	ENSP00000330031:p.Gly3Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.G3R	ENST00000332271.5	37	c.7	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304607	0.40795	.	.	ENSG00000184571	ENST00000332271	T	0.05580	3.42	2.42	2.42	0.29668	.	0.000000	0.85682	U	0.000000	T	0.18676	0.0448	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00573	-1.1664	10	0.87932	D	0	-1.9222	8.4676	0.32966	0.0:1.0:0.0:0.0	.	3;3	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	R	3	ENSP00000330031:G3R	ENSP00000330031:G3R	G	-	1	0	PIWIL3	23488460	0.236000	0.23804	0.745000	0.31077	0.162000	0.22319	2.210000	0.42816	1.689000	0.51079	0.563000	0.77884	GGT	PIWIL3	-	NULL		0.552	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	C	NM_001008496		25158460	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.736	G
PIWIL4	143689	genome.wustl.edu	37	11	94316638	94316638	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:94316638C>G	ENST00000299001.6	+	5	749	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	180					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGTGAAACTCAAAGAGGTGA	0.423																																																	0													170.0	171.0	171.0					11																	94316638		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.538C>G	11.37:g.94316638C>G	ENSP00000299001:p.Gln180Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q180E	ENST00000299001.6	37	c.538	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	C	3.237	-0.156207	0.06544	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.13657	3.17;2.57	5.54	2.53	0.30540	Argonaute/Dicer protein, PAZ (1);	1.577130	0.03385	N	0.201046	T	0.12561	0.0305	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.40590	-0.9555	10	0.06365	T	0.9	4.7177	8.1512	0.31141	0.3877:0.5402:0.0:0.0722	.	180	Q7Z3Z4	PIWL4_HUMAN	E	180;111	ENSP00000299001:Q180E;ENSP00000440499:Q111E	ENSP00000299001:Q180E	Q	+	1	0	PIWIL4	93956286	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.035000	0.13797	0.896000	0.36366	-0.175000	0.13238	CAA	PIWIL4	-	superfamily_PAZ		0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	C	NM_152431		94316638	+1	no_errors	ENST00000299001	ensembl	human	known	70_37	missense	SNP	0.000	G
PKD1L1	168507	genome.wustl.edu	37	7	47897295	47897295	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:47897295G>C	ENST00000289672.2	-	28	4548	c.4498C>G	c.(4498-4500)Cct>Gct	p.P1500A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1500	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCCAGCAGGACTGTGCCCA	0.552																																																	0													76.0	76.0	76.0					7																	47897295		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4498C>G	7.37:g.47897295G>C	ENSP00000289672:p.Pro1500Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.P1500A	ENST00000289672.2	37	c.4498	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	7.316	0.616027	0.14129	.	.	ENSG00000158683	ENST00000289672	T	0.18810	2.19	5.22	-0.813	0.10850	Egg jelly receptor, REJ-like (1);	0.750350	0.11233	N	0.585386	T	0.11452	0.0279	L	0.51422	1.61	0.09310	N	1	P	0.43788	0.817	B	0.36666	0.23	T	0.17837	-1.0356	10	0.08179	T	0.78	-5.3764	1.6422	0.02755	0.1794:0.1351:0.4103:0.2752	.	1500	Q8TDX9	PK1L1_HUMAN	A	1500	ENSP00000289672:P1500A	ENSP00000289672:P1500A	P	-	1	0	PKD1L1	47863820	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.386000	0.07370	0.160000	0.19432	0.563000	0.77884	CCT	PKD1L1	-	pfscan_REJ-like		0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	G	NM_138295		47897295	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	0.000	C
PKHD1L1	93035	genome.wustl.edu	37	8	110408272	110408272	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:110408272C>A	ENST00000378402.5	+	11	932	c.828C>A	c.(826-828)ttC>ttA	p.F276L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	276	IPT/TIG 3.				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)			CCATGATTTTCCCTTCACAAG	0.383										HNSCC(38;0.096)																																							0													65.0	57.0	59.0					8																	110408272		1991	4178	6169	SO:0001583	missense	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.828C>A	8.37:g.110408272C>A	ENSP00000367655:p.Phe276Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	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.F276L	ENST00000378402.5	37	c.828	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	7.137	0.581144	0.13686	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	5.8	-7.8	0.01214	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.285780	0.29342	N	0.012426	T	0.59032	0.2164	L	0.46157	1.445	0.24048	N	0.996054	B	0.13145	0.007	B	0.23716	0.048	T	0.43245	-0.9403	10	0.37606	T	0.19	.	2.8825	0.05652	0.1542:0.4438:0.1325:0.2695	.	276	Q86WI1	PKHL1_HUMAN	L	276	ENSP00000367655:F276L	ENSP00000367655:F276L	F	+	3	2	PKHD1L1	110477448	0.073000	0.21202	0.512000	0.27736	0.073000	0.16967	-1.139000	0.03213	-1.229000	0.02564	-1.175000	0.01729	TTC	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110408272	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.326	A
PKHD1L1	93035	genome.wustl.edu	37	8	110456022	110456022	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:110456022C>G	ENST00000378402.5	+	37	4786	c.4682C>G	c.(4681-4683)tCa>tGa	p.S1561*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1561					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)			TTTGAGGTTTCAAGTTGTTTT	0.413										HNSCC(38;0.096)																																							0													102.0	97.0	99.0					8																	110456022		1836	4075	5911	SO:0001587	stop_gained	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.4682C>G	8.37:g.110456022C>G	ENSP00000367655:p.Ser1561*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Nonsense_Mutation	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.S1561*	ENST00000378402.5	37	c.4682	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	45	11.717468	0.99594	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.87	5.87	0.94306	.	0.159773	0.42821	D	0.000651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	1561	.	ENSP00000367655:S1561X	S	+	2	0	PKHD1L1	110525198	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.800000	0.62524	2.941000	0.99782	0.655000	0.94253	TCA	PKHD1L1	-	NULL		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110456022	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PKM	5315	genome.wustl.edu	37	15	72502765	72502765	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:72502765C>T	ENST00000335181.5	-	4	404	c.301G>A	c.(301-303)Gac>Aac	p.D101N	PKM_ENST00000319622.6_Missense_Mutation_p.D101N|PKM_ENST00000568459.1_Missense_Mutation_p.D101N|PKM_ENST00000565184.1_Missense_Mutation_p.D101N|PKM_ENST00000449901.2_Missense_Mutation_p.D86N|PKM_ENST00000568883.1_Intron|PKM_ENST00000389093.3_Missense_Mutation_p.D101N|PKM_ENST00000565154.1_Missense_Mutation_p.D101N	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	101					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	AGGATGGGGTCAGAAGCAAAG	0.547																																																	0													121.0	106.0	111.0					15																	72502765		2199	4297	6496	SO:0001583	missense	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.301G>A	15.37:g.72502765C>T	ENSP00000334983:p.Asp101Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.D101N	ENST00000335181.5	37	c.301	CCDS32284.1	15	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062349	0.55432	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000389093;ENST00000449901	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.51	5.51	0.81932	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.094778	0.64402	D	0.000001	D	0.97210	0.9088	L	0.38175	1.15	0.40432	D	0.979951	B;B;B;B;B	0.13145	0.007;0.001;0.001;0.001;0.001	B;B;B;B;B	0.16289	0.015;0.008;0.003;0.006;0.004	D	0.95625	0.8684	10	0.18276	T	0.48	-11.0467	13.0533	0.58966	0.0:0.9263:0.0:0.0737	.	86;101;101;101;101	B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2	.;.;.;KPYM_HUMAN;.	N	101;101;101;86	ENSP00000320171:D101N;ENSP00000334983:D101N;ENSP00000373745:D101N;ENSP00000403365:D86N	ENSP00000320171:D101N	D	-	1	0	PKM2	70289819	0.959000	0.32827	1.000000	0.80357	0.982000	0.71751	2.144000	0.42197	2.738000	0.93877	0.655000	0.94253	GAC	PKM	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase		0.547	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKM	HGNC	protein_coding	OTTHUMT00000420056.1	C			72502765	-1	no_errors	ENST00000319622	ensembl	human	known	70_37	missense	SNP	0.998	T
PKP3	11187	genome.wustl.edu	37	11	397562	397562	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:397562C>T	ENST00000331563.2	+	4	1044	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	323					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCTGCCCTCAGCAGTCAAG	0.607																																																	0													67.0	62.0	63.0					11																	397562		2203	4298	6501	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.968C>T	11.37:g.397562C>T	ENSP00000331678:p.Ser323Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S323L	ENST00000331563.2	37	c.968	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	16.58	3.161816	0.57368	.	.	ENSG00000184363	ENST00000533249;ENST00000331563	T	0.47869	0.83	4.45	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.384724	0.22962	N	0.053537	T	0.36082	0.0954	L	0.50333	1.59	0.36409	D	0.863636	P	0.35844	0.524	B	0.25140	0.058	T	0.48603	-0.9021	10	0.72032	D	0.01	-8.2377	8.8992	0.35484	0.0:0.8251:0.0:0.1749	.	323	Q9Y446	PKP3_HUMAN	L	167;323	ENSP00000331678:S323L	ENSP00000331678:S323L	S	+	2	0	PKP3	387562	0.870000	0.30015	0.922000	0.36590	0.977000	0.68977	4.173000	0.58249	1.024000	0.39682	0.556000	0.70494	TCA	PKP3	-	superfamily_ARM-type_fold		0.607	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		397562	+1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	0.766	T
PLA2G6	8398	genome.wustl.edu	37	22	38512084	38512084	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38512084G>A	ENST00000332509.3	-	13	2060	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	PLA2G6_ENST00000335539.3_Missense_Mutation_p.S572L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.S572L	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	626	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)	GTTTAAACCTGAGGGCTGAGC	0.587																																																	0													62.0	60.0	60.0					22																	38512084		2203	4300	6503	SO:0001583	missense	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.1877C>T	22.37:g.38512084G>A	ENSP00000333142:p.Ser626Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	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.S626L	ENST00000332509.3	37	c.1877	CCDS13967.1	22	.	.	.	.	.	.	.	.	.	.	g	12.17	1.858442	0.32791	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.76578	-1.03;-1.03;-1.03	4.43	3.36	0.38483	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.643703	0.15774	N	0.245265	T	0.66426	0.2788	L	0.28054	0.825	0.80722	D	1	B;B	0.22211	0.013;0.066	B;B	0.29440	0.025;0.102	T	0.62909	-0.6754	10	0.34782	T	0.22	-8.729	10.8965	0.47025	0.0:0.0:0.7306:0.2694	.	572;626	O60733-2;O60733	.;PA2G6_HUMAN	L	626;487;572;572	ENSP00000333142:S626L;ENSP00000335149:S572L;ENSP00000386100:S572L	ENSP00000333142:S626L	S	-	2	0	PLA2G6	36842030	0.993000	0.37304	0.971000	0.41717	0.106000	0.19336	2.248000	0.43160	2.009000	0.58944	0.457000	0.33378	TCA	PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.587	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38512084	-1	no_errors	ENST00000332509	ensembl	human	known	70_37	missense	SNP	0.992	A
PLA2G6	8398	genome.wustl.edu	37	22	38512097	38512097	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38512097G>C	ENST00000332509.3	-	13	2047	c.1864C>G	c.(1864-1866)Cca>Gca	p.P622A	PLA2G6_ENST00000335539.3_Missense_Mutation_p.P568A|PLA2G6_ENST00000402064.1_Missense_Mutation_p.P568A	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	622	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)	GGCTGAGCTGGAGGCCTGAGG	0.587																																																	0													69.0	66.0	67.0					22																	38512097		2203	4300	6503	SO:0001583	missense	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.1864C>G	22.37:g.38512097G>C	ENSP00000333142:p.Pro622Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	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.P622A	ENST00000332509.3	37	c.1864	CCDS13967.1	22	.	.	.	.	.	.	.	.	.	.	g	7.889	0.731892	0.15507	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.79247	-1.25;-1.25;-1.25	4.43	4.43	0.53597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.123112	0.56097	D	0.000029	T	0.75708	0.3886	L	0.53561	1.675	0.80722	D	1	B;P	0.40681	0.11;0.727	B;P	0.46208	0.082;0.507	T	0.71361	-0.4616	10	0.17832	T	0.49	-1.6337	11.9968	0.53208	0.0:0.1749:0.825:0.0	.	568;622	O60733-2;O60733	.;PA2G6_HUMAN	A	622;483;568;568	ENSP00000333142:P622A;ENSP00000335149:P568A;ENSP00000386100:P568A	ENSP00000333142:P622A	P	-	1	0	PLA2G6	36842043	0.995000	0.38212	0.654000	0.29608	0.130000	0.20726	5.029000	0.64121	2.009000	0.58944	0.457000	0.33378	CCA	PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.587	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38512097	-1	no_errors	ENST00000332509	ensembl	human	known	70_37	missense	SNP	0.997	C
PLCB1	23236	genome.wustl.edu	37	20	8130983	8130983	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:8130983C>G	ENST00000338037.6	+	2	169	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q48E|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q48E	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	48					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GACTGACCCTCAGGGATTTTT	0.318																																																	0													76.0	76.0	76.0					20																	8130983		2203	4292	6495	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.142C>G	20.37:g.8130983C>G	ENSP00000338185:p.Gln48Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	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,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.Q48E	ENST00000338037.6	37	c.142	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591446	0.46214	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.76	5.76	0.90799	.	0.154257	0.41500	D	0.000867	T	0.28532	0.0706	N	0.14661	0.345	0.31758	N	0.633748	B;B;B	0.23806	0.007;0.001;0.091	B;B;B	0.26969	0.014;0.0;0.075	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.4856	0.61364	0.1563:0.8436:0.0:0.0	.	48;48;47	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	E	48;48;48;47	ENSP00000367908:Q48E;ENSP00000338185:Q48E;ENSP00000367904:Q48E;ENSP00000384001:Q47E	ENSP00000338185:Q48E	Q	+	1	0	PLCB1	8078983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.006000	0.40874	2.715000	0.92844	0.561000	0.74099	CAG	PLCB1	-	pirsf_PLC-beta		0.318	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8130983	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCB1	23236	genome.wustl.edu	37	20	8745835	8745835	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:8745835G>A	ENST00000338037.6	+	26	2787	c.2760G>A	c.(2758-2760)gtG>gtA	p.V920V	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.V920V|PLCB1_ENST00000378641.3_Silent_p.V920V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	920					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATCGTTTGTGAAACTTCAAA	0.393																																																	0													81.0	76.0	77.0					20																	8745835		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2760G>A	20.37:g.8745835G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	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,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.V920	ENST00000338037.6	37	c.2760	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8745835	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	silent	SNP	0.995	A
PLCD3	113026	genome.wustl.edu	37	17	43192603	43192603	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43192603C>A	ENST00000322765.5	-	10	1682	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	523					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)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCGGGGAGATCTGCTTGGCCT	0.701																																																	0													17.0	22.0	20.0					17																	43192603		2072	4179	6251	SO:0001583	missense	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1569G>T	17.37:g.43192603C>A	ENSP00000313731:p.Gln523His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEC1|Q8TF37|Q96FL6	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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Q523H	ENST00000322765.5	37	c.1569		17	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946710	0.34377	.	.	ENSG00000161714	ENST00000322765	T	0.63096	-0.02	4.22	4.22	0.49857	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.175750	0.49916	D	0.000129	T	0.53351	0.1791	.	.	.	0.33448	D	0.58327	B	0.26120	0.142	B	0.15870	0.014	T	0.65471	-0.6160	9	0.52906	T	0.07	.	16.234	0.82361	0.0:1.0:0.0:0.0	.	523	Q8N3E9	PLCD3_HUMAN	H	523	ENSP00000313731:Q523H	ENSP00000313731:Q523H	Q	-	3	2	PLCD3	40548129	0.990000	0.36364	1.000000	0.80357	0.610000	0.37248	0.535000	0.23114	2.271000	0.75665	0.462000	0.41574	CAG	PLCD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.701	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		C	NM_133373		43192603	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCD4	84812	genome.wustl.edu	37	2	219495403	219495403	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:219495403G>A	ENST00000450993.2	+	9	1489	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	PLCD4_ENST00000432688.1_Missense_Mutation_p.E384K|PLCD4_ENST00000417849.1_Missense_Mutation_p.E384K|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	384	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTTGTCCCTGGAGACCCACTG	0.567																																																	0													57.0	59.0	58.0					2																	219495403		2035	4184	6219	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1150G>A	2.37:g.219495403G>A	ENSP00000388631:p.Glu384Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FS8	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.E384K	ENST00000450993.2	37	c.1150	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.671278	0.96754	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.63417	-0.04;-0.04;-0.04	5.03	5.03	0.67393	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.161273	0.56097	D	0.000039	D	0.86818	0.6024	H	0.99890	4.9	0.80722	D	1	D	0.54207	0.965	P	0.53722	0.733	D	0.93070	0.6482	10	0.72032	D	0.01	.	17.3528	0.87328	0.0:0.0:1.0:0.0	.	384	Q9BRC7	PLCD4_HUMAN	K	384	ENSP00000388631:E384K;ENSP00000396942:E384K;ENSP00000396185:E384K	ENSP00000251959:E384K	E	+	1	0	PLCD4	219203647	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.632000	0.98428	2.624000	0.88883	0.586000	0.80456	GAG	PLCD4	-	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		0.567	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	G			219495403	+1	no_errors	ENST00000417849	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCG1	5335	genome.wustl.edu	37	20	39793956	39793956	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:39793956C>G	ENST00000373271.1	+	14	1863	c.1458C>G	c.(1456-1458)atC>atG	p.I486M	PLCG1_ENST00000244007.3_Missense_Mutation_p.I486M|PLCG1_ENST00000373272.2_Missense_Mutation_p.I486M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	486					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGAACGACATCAGCAACTCTA	0.577																																																	0													106.0	97.0	100.0					20																	39793956		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1458C>G	20.37:g.39793956C>G	ENSP00000362368:p.Ile486Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.I486M	ENST00000373271.1	37	c.1458	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378339	0.61735	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.68025	-0.3;-0.3;-0.3	5.13	3.19	0.36642	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	L	0.47190	1.495	0.80722	D	1	P;B;P	0.47034	0.889;0.215;0.823	P;B;P	0.56514	0.8;0.101;0.635	T	0.66555	-0.5894	10	0.40728	T	0.16	.	10.3061	0.43680	0.1349:0.7947:0.0:0.0704	.	486;486;486	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	M	486	ENSP00000244007:I486M;ENSP00000362368:I486M;ENSP00000362369:I486M	ENSP00000244007:I486M	I	+	3	3	PLCG1	39227370	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.430000	0.66501	0.746000	0.32786	-0.150000	0.13652	ATC	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	C	NM_182811		39793956	+1	no_errors	ENST00000244007	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	145009251	145009251	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:145009251G>A	ENST00000322810.4	-	8	1333	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	PLEC_ENST00000345136.3_Silent_p.I251I|PLEC_ENST00000398774.2_Silent_p.I219I|PLEC_ENST00000436759.2_Silent_p.I278I|PLEC_ENST00000527096.1_Silent_p.I278I|PLEC_ENST00000354958.2_Silent_p.I229I|PLEC_ENST00000357649.2_Silent_p.I255I|PLEC_ENST00000356346.3_Silent_p.I237I|PLEC_ENST00000354589.3_Silent_p.I251I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	388	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTAGGTGATGATGGACTTCT	0.682																																																	0													85.0	97.0	93.0					8																	145009251		2176	4259	6435	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1164C>T	8.37:g.145009251G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.I388	ENST00000322810.4	37	c.1164	CCDS43772.1	8																																																																																			PLEC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145009251	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	1.000	A
PLEKHA4	57664	genome.wustl.edu	37	19	49362362	49362362	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49362362G>C	ENST00000263265.6	-	8	1282	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.L243V|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	243	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGAGGCTCAGAGGCGAGGGA	0.662																																																	0													3.0	4.0	3.0					19																	49362362		1848	3796	5644	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.727C>G	19.37:g.49362362G>C	ENSP00000263265:p.Leu243Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L243V	ENST00000263265.6	37	c.727	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	g	9.739	1.164393	0.21538	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.14022	2.99;2.54	4.78	2.63	0.31362	.	0.582213	0.15775	N	0.245226	T	0.07863	0.0197	N	0.19112	0.55	0.25650	N	0.986105	B;B	0.28055	0.143;0.199	B;B	0.32289	0.143;0.061	T	0.40327	-0.9569	10	0.13108	T	0.6	.	6.3305	0.21266	0.0934:0.0:0.7264:0.1802	.	243;243	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	V	243	ENSP00000263265:L243V;ENSP00000347683:L243V	ENSP00000263265:L243V	L	-	1	2	PLEKHA4	54054174	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	1.326000	0.33735	0.750000	0.32877	-0.372000	0.07161	CTG	PLEKHA4	-	NULL		0.662	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	G			49362362	-1	no_errors	ENST00000263265	ensembl	human	known	70_37	missense	SNP	0.997	C
PLEKHA5	54477	genome.wustl.edu	37	12	19475477	19475477	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:19475477C>T	ENST00000299275.6	+	15	2021	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.S672L|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.S672L|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.S430L|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.S603L|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.S730L|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.S591L|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.S775L|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.S730L	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	672					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCTTTGCTATCAGCCAGCCAA	0.373																																					Pancreas(196;329 2193 11246 14234 19524)												0													81.0	78.0	79.0					12																	19475477		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2015C>T	12.37:g.19475477C>T	ENSP00000299275:p.Ser672Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.S672L	ENST00000299275.6	37	c.2015	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320033	0.81469	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;2.55;-1.44;-1.44;-1.44;2.55;-1.44;-1.44;-1.44	4.76	4.76	0.60689	.	0.067941	0.64402	D	0.000008	D	0.85177	0.5637	L	0.43923	1.385	0.44762	D	0.997769	P;D;D;D;D;D;D	0.89917	0.664;1.0;1.0;0.997;0.997;0.992;1.0	P;D;D;P;P;P;D	0.79108	0.472;0.992;0.974;0.882;0.882;0.904;0.988	T	0.83058	-0.0149	10	0.30078	T	0.28	-13.62	16.1322	0.81449	0.0:1.0:0.0:0.0	.	672;591;603;775;775;672;730	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	L	672;730;672;776;775;672;430;730;603;591;564;9	ENSP00000325155:S672L;ENSP00000347560:S730L;ENSP00000352104:S672L;ENSP00000404296:S775L;ENSP00000299275:S672L;ENSP00000440611:S430L;ENSP00000439673:S730L;ENSP00000400411:S603L;ENSP00000439837:S591L;ENSP00000440371:S564L;ENSP00000443553:S9L	ENSP00000299275:S672L	S	+	2	0	PLEKHA5	19366744	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	6.785000	0.75089	2.462000	0.83206	0.557000	0.71058	TCA	PLEKHA5	-	NULL		0.373	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012		19475477	+1	no_errors	ENST00000317589	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHA5	54477	genome.wustl.edu	37	12	19522680	19522680	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:19522680C>G	ENST00000299275.6	+	25	3316	c.3310C>G	c.(3310-3312)Cag>Gag	p.Q1104E	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q1048E|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q1167E|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q862E|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q1093E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q1162E|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q1086E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q1270E|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Q1162E	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1104					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCATCCACTCAGCCGCAGCT	0.408																																					Pancreas(196;329 2193 11246 14234 19524)												0													136.0	121.0	126.0					12																	19522680		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3310C>G	12.37:g.19522680C>G	ENSP00000299275:p.Gln1104Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.Q1167E	ENST00000299275.6	37	c.3499	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845239	0.51164	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000538972	T;T;T;T;T;T;T;T;T;T	0.30714	2.95;2.95;2.94;2.94;2.95;2.54;2.95;2.94;2.95;1.52	5.13	5.13	0.70059	.	0.271834	0.30020	N	0.010616	T	0.25791	0.0628	N	0.19112	0.55	0.21802	N	0.999535	B;B;P;B;B	0.36837	0.072;0.043;0.571;0.13;0.205	B;B;B;B;B	0.41510	0.099;0.046;0.359;0.066;0.14	T	0.14448	-1.0472	10	0.28530	T	0.3	-7.6273	16.2491	0.82473	0.0:1.0:0.0:0.0	.	1086;1093;1048;1104;1162	F5H0I0;E7EME8;Q9HAU0-5;Q9HAU0;Q9HAU0-2	.;.;.;PKHA5_HUMAN;.	E	1167;1162;1048;1270;1104;862;1162;1093;1086;385	ENSP00000325155:Q1167E;ENSP00000347560:Q1162E;ENSP00000352104:Q1048E;ENSP00000404296:Q1270E;ENSP00000299275:Q1104E;ENSP00000440611:Q862E;ENSP00000439673:Q1162E;ENSP00000400411:Q1093E;ENSP00000439837:Q1086E;ENSP00000443553:Q385E	ENSP00000299275:Q1104E	Q	+	1	0	PLEKHA5	19413947	0.992000	0.36948	0.933000	0.37362	0.960000	0.62799	2.991000	0.49409	2.826000	0.97356	0.655000	0.94253	CAG	PLEKHA5	-	NULL		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012		19522680	+1	no_errors	ENST00000317589	ensembl	human	known	70_37	missense	SNP	0.984	G
PLEKHA7	144100	genome.wustl.edu	37	11	16807925	16807925	+	IGR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:16807925C>T	ENST00000355661.3	-	0	4980				PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E1123K			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7						epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AAGTCCTGCTCACGCTTCCAC	0.527											OREG0020803	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954		11.37:g.16807925C>T		Somatic	713	WXS	Illumina HiSeq	Phase_IV	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.E1123K	ENST00000355661.3	37	c.3367	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953836	0.73902	.	.	ENSG00000166689	ENST00000531066	T	0.07114	3.22	5.86	5.86	0.93980	.	.	.	.	.	T	0.10423	0.0255	.	.	.	0.80722	D	1	D	0.54601	0.967	P	0.50082	0.63	T	0.04811	-1.0925	8	0.02654	T	1	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1123	E9PKC0	.	K	1123	ENSP00000435389:E1123K	ENSP00000435389:E1123K	E	-	1	0	PLEKHA7	16764501	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.270000	0.78493	2.775000	0.95449	0.655000	0.94253	GAG	PLEKHA7	-	NULL		0.527	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	C	NM_175058		16807925	-1	no_errors	ENST00000531066	ensembl	human	putative	70_37	missense	SNP	1.000	T
PLEKHG1	57480	genome.wustl.edu	37	6	151121928	151121928	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:151121928C>G	ENST00000358517.2	+	6	914	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L235V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	235	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCAGGAAACTCTGAAACACTC	0.483																																																	0													125.0	123.0	124.0					6																	151121928		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.703C>G	6.37:g.151121928C>G	ENSP00000351318:p.Leu235Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L235V	ENST00000358517.2	37	c.703	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506601	0.64410	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.63096	-0.02;-0.02	6.16	-0.267	0.12938	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.77616	2.38	0.58432	D	0.999997	D;D;D	0.60160	0.987;0.962;0.962	D;P;P	0.72075	0.976;0.842;0.842	T	0.77115	-0.2707	10	0.87932	D	0	.	15.5146	0.75812	0.0:0.7517:0.0:0.2483	.	42;235;235	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	235	ENSP00000356297:L235V;ENSP00000351318:L235V	ENSP00000351318:L235V	L	+	1	2	PLEKHG1	151163621	0.038000	0.19896	0.374000	0.26016	0.554000	0.35429	0.283000	0.18846	-0.164000	0.10927	0.650000	0.86243	CTG	PLEKHG1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	C			151121928	+1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	0.994	G
PLEKHG4	25894	genome.wustl.edu	37	16	67314851	67314851	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67314851C>G	ENST00000360461.5	+	3	3197	c.662C>G	c.(661-663)tCt>tGt	p.S221C	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S221C|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S221C|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S140C	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	221							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGCTTCAGTCTGAGTGCAGC	0.622																																																	0													43.0	42.0	42.0					16																	67314851		2198	4300	6498	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.662C>G	16.37:g.67314851C>G	ENSP00000353646:p.Ser221Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S221C	ENST00000360461.5	37	c.662	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604581	0.66445	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.53	4.58	0.56647	.	1.122640	0.07031	N	0.828362	T	0.19685	0.0473	N	0.19112	0.55	0.24451	N	0.994483	P;P;P	0.39696	0.683;0.49;0.556	B;B;B	0.36418	0.224;0.213;0.112	T	0.21621	-1.0240	10	0.87932	D	0	.	10.4709	0.44635	0.0:0.9102:0.0:0.0898	.	140;28;221	Q58EX7-2;B4E3H4;Q58EX7	.;.;PKHG4_HUMAN	C	221;221;221;140	ENSP00000353646:S221C;ENSP00000401118:S221C;ENSP00000368649:S221C;ENSP00000398030:S140C	ENSP00000353646:S221C	S	+	2	0	PLEKHG4	65872352	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.217000	0.51184	1.330000	0.45394	0.453000	0.30009	TCT	PLEKHG4	-	superfamily_CRAL-TRIO_dom		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	C	NM_015432		67314851	+1	no_errors	ENST00000360461	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEKHM1	9842	genome.wustl.edu	37	17	43516962	43516962	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43516962C>G	ENST00000430334.3	-	11	3073	c.2940G>C	c.(2938-2940)ctG>ctC	p.L980L	PLEKHM1_ENST00000421073.2_Silent_p.L891L|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	980					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAAATTCAATCAGGGCCTTGA	0.567																																																	0													118.0	90.0	99.0					17																	43516962		2203	4300	6503	SO:0001819	synonymous_variant	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2940G>C	17.37:g.43516962C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L980	ENST00000430334.3	37	c.2940	CCDS32671.1	17																																																																																			PLEKHM1	-	NULL		0.567	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	C	NM_014798		43516962	-1	no_errors	ENST00000430334	ensembl	human	known	70_37	silent	SNP	0.986	G
PLK3	1263	genome.wustl.edu	37	1	45270290	45270290	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:45270290G>A	ENST00000372201.4	+	13	1744				PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATTGGTGCAGGGCTCCCTCTG	0.617																																																	0													92.0	99.0	96.0					1																	45270290		2203	4300	6503	SO:0001627	intron_variant	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1506-32G>A	1.37:g.45270290G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15767|Q5JR99|Q96CV1	RNA	SNP	-	NULL	ENST00000372201.4	37	NULL	CCDS515.1	1																																																																																			PLK3	-	-		0.617	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	G	NM_004073		45270290	+1	no_errors	ENST00000465443	ensembl	human	known	70_37	rna	SNP	0.091	A
PLP2	5355	genome.wustl.edu	37	X	49030742	49030742	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:49030742C>T	ENST00000376327.5	+	4	481	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	136	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTTCCCCGTTCGGCAGCCAAG	0.557													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13159	0.0		0.0	False		,,,				2504	0.0																0													99.0	74.0	83.0					X																	49030742		2203	4300	6503	SO:0001583	missense	5355			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.406C>T	X.37:g.49030742C>T	ENSP00000365505:p.Arg136Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDT7|Q32MM8	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.R136W	ENST00000376327.5	37	c.406	CCDS14319.1	X	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430590	0.43122	.	.	ENSG00000102007	ENST00000376327	T	0.32023	1.47	5.64	1.65	0.23941	Marvel (1);	15.836100	0.00357	N	0.000025	T	0.38108	0.1028	M	0.68317	2.08	0.09310	N	1	D	0.62365	0.991	B	0.44315	0.446	T	0.25328	-1.0135	10	0.46703	T	0.11	-0.2134	7.5265	0.27658	0.4497:0.4699:0.0:0.0804	.	136	Q04941	PLP2_HUMAN	W	136	ENSP00000365505:R136W	ENSP00000365505:R136W	R	+	1	2	PLP2	48917686	0.001000	0.12720	0.070000	0.20053	0.432000	0.31715	-0.187000	0.09656	-0.112000	0.11979	0.513000	0.50165	CGG	PLP2	-	NULL		0.557	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP2	HGNC	protein_coding	OTTHUMT00000056540.1	C	NM_002668		49030742	+1	no_errors	ENST00000376327	ensembl	human	known	70_37	missense	SNP	0.024	T
PLS3	5358	genome.wustl.edu	37	X	114868346	114868346	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:114868346G>C	ENST00000420625.2	+	6	669	c.535G>C	c.(535-537)Gat>Cat	p.D179H	PLS3_ENST00000355899.3_Missense_Mutation_p.D179H|PLS3_ENST00000289290.3_Missense_Mutation_p.D134H|PLS3_ENST00000539310.1_Missense_Mutation_p.D134H|PLS3_ENST00000537301.1_Missense_Mutation_p.D157H	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	179	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGATACCATTGATGAAAGAGC	0.338																																					Colon(160;1047 1864 8490 12969 29601)												0													207.0	178.0	188.0					X																	114868346		2203	4300	6503	SO:0001583	missense	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.535G>C	X.37:g.114868346G>C	ENSP00000398945:p.Asp179His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.D179H	ENST00000420625.2	37	c.535	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886822	0.91814	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.45	5.45	0.79879	Calponin homology domain (5);	0.043669	0.85682	D	0.000000	D	0.98598	0.9531	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;0.986;0.971	D;P;P	0.78314	0.991;0.877;0.877	D	0.99787	1.1030	10	0.87932	D	0	-11.4739	16.7885	0.85580	0.0:0.0:1.0:0.0	.	152;157;179	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	H	179;157;134;179;134	ENSP00000348163:D179H;ENSP00000445105:D157H;ENSP00000289290:D134H;ENSP00000398945:D179H;ENSP00000445339:D134H	ENSP00000289290:D134H	D	+	1	0	PLS3	114774602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.274000	0.75844	0.594000	0.82650	GAT	PLS3	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.338	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	G			114868346	+1	no_errors	ENST00000355899	ensembl	human	known	70_37	missense	SNP	1.000	C
PLXDC1	57125	genome.wustl.edu	37	17	37296064	37296064	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:37296064G>A	ENST00000315392.4	-	2	309	c.98C>T	c.(97-99)tCt>tTt	p.S33F	PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.S33F	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	33					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCCATCCAGAGCCTGGGCC	0.632																																																	0													37.0	38.0	38.0					17																	37296064		2203	4300	6503	SO:0001583	missense	57125			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.98C>T	17.37:g.37296064G>A	ENSP00000323927:p.Ser33Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.S33F	ENST00000315392.4	37	c.98	CCDS11333.1	17	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477044	0.26511	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24151	1.87	5.39	1.93	0.25924	.	0.593130	0.16049	N	0.232046	T	0.17280	0.0415	L	0.40543	1.245	0.18873	N	0.999983	B	0.06786	0.001	B	0.04013	0.001	T	0.13442	-1.0509	10	0.48119	T	0.1	-0.8868	3.8093	0.08791	0.0917:0.1607:0.5823:0.1654	.	33	Q8IUK5	PXDC1_HUMAN	F	33	ENSP00000323927:S33F	ENSP00000323927:S33F	S	-	2	0	PLXDC1	34549590	0.030000	0.19436	0.991000	0.47740	0.916000	0.54674	0.381000	0.20619	1.288000	0.44600	0.561000	0.74099	TCT	PLXDC1	-	NULL		0.632	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	G	NM_020405		37296064	-1	no_errors	ENST00000315392	ensembl	human	known	70_37	missense	SNP	0.338	A
PLXNA2	5362	genome.wustl.edu	37	1	208219282	208219282	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:208219282C>T	ENST00000367033.3	-	18	4193	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1146	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTAAGCAGTTCAAAGGTCGGG	0.502																																																	0													154.0	150.0	151.0					1																	208219282		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3436G>A	1.37:g.208219282C>T	ENSP00000356000:p.Glu1146Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	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.E1146K	ENST00000367033.3	37	c.3436	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.326368	0.95708	.	.	ENSG00000076356	ENST00000367033	T	0.76060	-0.99	4.6	4.6	0.57074	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86696	0.1926	10	0.36615	T	0.2	.	17.7875	0.88542	0.0:1.0:0.0:0.0	.	1146	O75051	PLXA2_HUMAN	K	1146	ENSP00000356000:E1146K	ENSP00000356000:E1146K	E	-	1	0	PLXNA2	206285905	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.496000	0.81526	2.262000	0.75019	0.563000	0.77884	GAA	PLXNA2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.502	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208219282	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXNC1	10154	genome.wustl.edu	37	12	94691157	94691157	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:94691157C>T	ENST00000258526.4	+	26	4281	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	PLXNC1_ENST00000547057.1_Silent_p.F391F|PLXNC1_ENST00000545312.1_Silent_p.F83F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1344					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F1344L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCACAAGTTCAAAGTAAAAG	0.448																																																	1	Substitution - Missense(1)	urinary_tract(1)											100.0	89.0	93.0					12																	94691157		2203	4300	6503	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4032C>T	12.37:g.94691157C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F1344	ENST00000258526.4	37	c.4032	CCDS9049.1	12																																																																																			PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94691157	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	1.000	T
PLXNC1	10154	genome.wustl.edu	37	12	94697586	94697586	+	Missense_Mutation	SNP	G	G	C	rs143848397		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:94697586G>C	ENST00000258526.4	+	29	4690	c.4441G>C	c.(4441-4443)Gaa>Caa	p.E1481Q	PLXNC1_ENST00000547057.1_Missense_Mutation_p.E528Q|PLXNC1_ENST00000545312.1_Missense_Mutation_p.E220Q	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1481					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTACAAAGAAGAAGTAAAATC	0.348																																																	0													70.0	70.0	70.0					12																	94697586		2203	4299	6502	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4441G>C	12.37:g.94697586G>C	ENSP00000258526:p.Glu1481Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1481Q	ENST00000258526.4	37	c.4441	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390384	0.62066	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.18174	2.23;2.23;2.23	5.0	5.0	0.66597	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.963;0.999	T	0.02829	-1.1105	10	0.19590	T	0.45	.	18.3011	0.90164	0.0:0.0:1.0:0.0	.	528;1481	B4DHQ7;O60486	.;PLXC1_HUMAN	Q	1481;528;220	ENSP00000258526:E1481Q;ENSP00000446720:E528Q;ENSP00000439225:E220Q	ENSP00000258526:E1481Q	E	+	1	0	PLXNC1	93221717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.658000	0.61497	2.316000	0.78162	0.655000	0.94253	GAA	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.348	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94697586	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	1.000	C
PLXND1	23129	genome.wustl.edu	37	3	129286613	129286613	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:129286613C>T	ENST00000324093.4	-	21	4079	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1301K	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1301					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CAGTAACGCTCAGCACGTCGG	0.602																																					Ovarian(97;366 1484 3738 22084 39045)												0													56.0	49.0	52.0					3																	129286613		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3901G>A	3.37:g.129286613C>T	ENSP00000317128:p.Glu1301Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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.E1301K	ENST00000324093.4	37	c.3901	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.152156	0.94645	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35421	1.37;1.31	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66228	-0.5976	10	0.72032	D	0.01	.	18.9542	0.92653	0.0:1.0:0.0:0.0	.	1301	Q9Y4D7	PLXD1_HUMAN	K	1301	ENSP00000317128:E1301K;ENSP00000376931:E1301K	ENSP00000317128:E1301K	E	-	1	0	PLXND1	130769303	1.000000	0.71417	0.948000	0.38648	0.972000	0.66771	5.274000	0.65569	2.490000	0.84030	0.655000	0.94253	GAG	PLXND1	-	NULL		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	C	NM_015103		129286613	-1	no_errors	ENST00000324093	ensembl	human	known	70_37	missense	SNP	0.998	T
PMPCA	23203	genome.wustl.edu	37	9	139312472	139312472	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139312472G>C	ENST00000371717.3	+	8	910	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E170Q	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	301					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)		GTTACAGCTAGAAAGAGACAT	0.522																																																	0													167.0	166.0	167.0					9																	139312472		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.901G>C	9.37:g.139312472G>C	ENSP00000360782:p.Glu301Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E301Q	ENST00000371717.3	37	c.901	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265079	0.59431	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.34072	3.15;3.15;1.38	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.093030	0.64402	D	0.000001	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	B;B;B;B	0.24258	0.1;0.014;0.059;0.014	B;B;B;B	0.25405	0.06;0.042;0.046;0.042	T	0.07404	-1.0774	10	0.21014	T	0.42	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	170;301;9;301	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	Q	301;170;9	ENSP00000360782:E301Q;ENSP00000416702:E170Q;ENSP00000408393:E9Q	ENSP00000360782:E301Q	E	+	1	0	PMPCA	138432293	1.000000	0.71417	0.962000	0.40283	0.900000	0.52787	9.567000	0.98161	2.516000	0.84829	0.555000	0.69702	GAA	PMPCA	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.522	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139312472	+1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	1.000	C
PNLIPRP2	5408	genome.wustl.edu	37	10	118394403	118394403	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:118394403C>G	ENST00000298771.7	+	0	894				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GAGTATTACTCAAGCAGCGTC	0.498																																																	0													93.0	93.0	93.0					10																	118394403		1959	4178	6137			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118394403C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K627|Q6IB55	Nonsense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.S290*	ENST00000298771.7	37	c.869		10	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645469	0.47258	.	.	ENSG00000165862	ENST00000537242	.	.	.	5.51	4.59	0.56863	.	0.294502	0.23764	U	0.044788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.7215	0.69311	0.1464:0.8536:0.0:0.0	.	.	.	.	X	290	.	ENSP00000446346:S290X	S	+	2	0	PNLIPRP2	118384393	0.001000	0.12720	0.034000	0.17996	0.111000	0.19643	1.478000	0.35442	1.426000	0.47256	0.460000	0.39030	TCA	PNLIPRP2	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	C	NM_005396		118394403	+1	no_errors	ENST00000537242	ensembl	human	known	70_37	nonsense	SNP	0.037	G
PNPLA7	375775	genome.wustl.edu	37	9	140355119	140355119	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:140355119G>A	ENST00000277531.4	-	33	4023	c.3837C>T	c.(3835-3837)ttC>ttT	p.F1279F	NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371472.2_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.F1304F|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.F885F|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000492278.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1279					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGGTGCTCTGGAAGTCTGCGT	0.647																																																	0													102.0	84.0	90.0					9																	140355119		2202	4299	6501	SO:0001819	synonymous_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3837C>T	9.37:g.140355119G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F1304	ENST00000277531.4	37	c.3912	CCDS7045.1	9																																																																																			PNPLA7	-	NULL		0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	G	NM_152286		140355119	-1	no_errors	ENST00000406427	ensembl	human	known	70_37	silent	SNP	1.000	A
PNRC1	10957	genome.wustl.edu	37	6	89790884	89790884	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:89790884C>T	ENST00000336032.3	+	1	388	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	PNRC1_ENST00000369472.1_Intron|PNRC1_ENST00000354922.3_5'Flank|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	91					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)		AGGCACTCCTCGGGCAGCGCC	0.701										Multiple Myeloma(7;0.094)																																							0													7.0	8.0	7.0					6																	89790884		2158	4257	6415	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.271C>T	6.37:g.89790884C>T	ENSP00000336931:p.Arg91Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.R91W	ENST00000336032.3	37	c.271	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438492	0.62955	.	.	ENSG00000146278	ENST00000336032	T	0.52526	0.66	4.93	4.93	0.64822	.	0.350509	0.26366	N	0.024785	T	0.55784	0.1942	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64687	0.928;0.928	T	0.59553	-0.7433	10	0.87932	D	0	-6.353	16.5027	0.84261	0.0:1.0:0.0:0.0	.	91;91	Q12796;Q7Z5N0	PNRC1_HUMAN;.	W	91	ENSP00000336931:R91W	ENSP00000336931:R91W	R	+	1	2	PNRC1	89847603	0.986000	0.35501	0.977000	0.42913	0.143000	0.21401	4.104000	0.57790	2.557000	0.86248	0.555000	0.69702	CGG	PNRC1	-	NULL		0.701	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	C	NM_006813		89790884	+1	no_errors	ENST00000336032	ensembl	human	known	70_37	missense	SNP	0.995	T
POLD1	5424	genome.wustl.edu	37	19	50912854	50912854	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50912854G>C	ENST00000440232.2	+	17	2138	c.2085G>C	c.(2083-2085)gtG>gtC	p.V695V	POLD1_ENST00000595904.1_Silent_p.V721V|POLD1_ENST00000599857.1_Silent_p.V695V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	695					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCTGAAGGTGAGCGCCAACT	0.672								DNA polymerases (catalytic subunits)																																									0													56.0	63.0	61.0					19																	50912854		2203	4300	6503	SO:0001819	synonymous_variant	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2085G>C	19.37:g.50912854G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NER3|Q96H98	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.V695	ENST00000440232.2	37	c.2085	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	G			50912854	+1	no_errors	ENST00000440232	ensembl	human	known	70_37	silent	SNP	1.000	C
POLD3	10714	genome.wustl.edu	37	11	74323927	74323927	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:74323927G>A	ENST00000263681.2	+	5	393	c.264G>A	c.(262-264)gtG>gtA	p.V88V	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_Silent_p.V49V	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	88					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TTGTAGCAGTGAAGTCCAAGC	0.433																																																	0													110.0	93.0	99.0					11																	74323927		2200	4293	6493	SO:0001819	synonymous_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.264G>A	11.37:g.74323927G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.V88	ENST00000263681.2	37	c.264	CCDS8233.1	11																																																																																			POLD3	-	pfam_DNA_polymerase_subunit_Cdc27		0.433	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	G	NM_006591		74323927	+1	no_errors	ENST00000263681	ensembl	human	known	70_37	silent	SNP	1.000	A
POLE2	5427	genome.wustl.edu	37	14	50154889	50154889	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:50154889G>A	ENST00000216367.5	-	1	132	c.33C>T	c.(31-33)ctC>ctT	p.L11L	POLE2_ENST00000539565.2_Silent_p.L11L|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.L11L|POLE2_ENST00000553805.2_Silent_p.L11L	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	11				L -> P (in Ref. 1; AAC51920). {ECO:0000305}.	DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|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)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TGAAGGCGGAGAGCGCCCGGC	0.731																																																	0													4.0	5.0	4.0					14																	50154889		2012	4036	6048	SO:0001819	synonymous_variant	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.33C>T	14.37:g.50154889G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.L11	ENST00000216367.5	37	c.33	CCDS32073.1	14																																																																																			POLE2	-	pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu		0.731	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	HGNC	protein_coding	OTTHUMT00000410512.1	G	NM_002692		50154889	-1	no_errors	ENST00000216367	ensembl	human	known	70_37	silent	SNP	0.006	A
POLK	51426	genome.wustl.edu	37	5	74877066	74877066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:74877066G>T	ENST00000241436.4	+	7	899	c.727G>T	c.(727-729)Gag>Tag	p.E243*	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Nonsense_Mutation_p.E243*|POLK_ENST00000352007.5_Nonsense_Mutation_p.E243*|POLK_ENST00000508526.1_Nonsense_Mutation_p.E243*|POLK_ENST00000380481.3_Nonsense_Mutation_p.E153*|POLK_ENST00000515295.1_Nonsense_Mutation_p.E243*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	243	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAAACTGAGTGAGCATGAACG	0.368								DNA polymerases (catalytic subunits)																																									0													76.0	76.0	76.0					5																	74877066		2203	4300	6503	SO:0001587	stop_gained	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.727G>T	5.37:g.74877066G>T	ENSP00000241436:p.Glu243*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.E243*	ENST00000241436.4	37	c.727	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342283	0.61073	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	.	.	.	5.39	5.39	0.77823	.	0.584577	0.18567	N	0.137451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.1553	14.43	0.67243	0.0734:0.0:0.9266:0.0	.	.	.	.	X	243;243;243;243;243;153	.	ENSP00000241436:E243X	E	+	1	0	POLK	74912822	0.996000	0.38824	0.092000	0.20876	0.224000	0.24922	2.826000	0.48104	2.517000	0.84864	0.491000	0.48974	GAG	POLK	-	pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N		0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	G	NM_016218		74877066	+1	no_errors	ENST00000241436	ensembl	human	known	70_37	nonsense	SNP	0.291	T
POLQ	10721	genome.wustl.edu	37	3	121208843	121208843	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121208843C>T	ENST00000264233.5	-	16	3063	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	979					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTCTGATGTTCTTGATTCCCA	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													52.0	54.0	53.0					3																	121208843		2202	4299	6501	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2935G>A	3.37:g.121208843C>T	ENSP00000264233:p.Glu979Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.E979K	ENST00000264233.5	37	c.2935	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140120	0.37825	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.56275	0.47	4.91	4.91	0.64330	.	0.190625	0.43416	D	0.000573	T	0.45196	0.1330	L	0.27053	0.805	0.23113	N	0.99828	P;P	0.51351	0.544;0.944	B;P	0.48270	0.162;0.572	T	0.33548	-0.9864	10	0.24483	T	0.36	.	13.3223	0.60440	0.0:0.8285:0.1715:0.0	.	979;151	O75417;O75417-2	DPOLQ_HUMAN;.	K	602;979;1115	ENSP00000264233:E979K	ENSP00000264233:E979K	E	-	1	0	POLQ	122691533	0.302000	0.24454	0.060000	0.19600	0.748000	0.42578	1.513000	0.35823	2.554000	0.86153	0.563000	0.77884	GAA	POLQ	-	NULL		0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121208843	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	0.591	T
POLR1A	25885	genome.wustl.edu	37	2	86269049	86269049	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:86269049C>G	ENST00000263857.6	-	24	3913	c.3535G>C	c.(3535-3537)Gag>Cag	p.E1179Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1179Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1179					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TAACTCTTCTCTGTTTGAGCT	0.463																																																	0													150.0	145.0	147.0					2																	86269049		1945	4160	6105	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3535G>C	2.37:g.86269049C>G	ENSP00000263857:p.Glu1179Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.E1179Q	ENST00000263857.6	37	c.3535	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464408	0.26335	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67345	-0.26;-0.26	5.28	5.28	0.74379	RNA polymerase Rpb1, domain 5 (1);	0.341722	0.30374	N	0.009780	T	0.65863	0.2732	L	0.39085	1.19	0.22081	N	0.999377	P;P	0.45078	0.85;0.85	P;P	0.54174	0.58;0.744	T	0.56001	-0.8051	10	0.14252	T	0.57	-32.1416	12.7175	0.57123	0.0:0.9139:0.0:0.0861	.	545;1179	B7Z8X7;O95602	.;RPA1_HUMAN	Q	1179	ENSP00000263857:E1179Q;ENSP00000386300:E1179Q	ENSP00000263857:E1179Q	E	-	1	0	POLR1A	86122560	0.032000	0.19561	0.614000	0.29051	0.240000	0.25518	1.291000	0.33330	2.486000	0.83907	0.655000	0.94253	GAG	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.463	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86269049	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.176	G
POLR2B	5431	genome.wustl.edu	37	4	57888400	57888400	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:57888400G>A	ENST00000381227.1	+	19	2916	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	POLR2B_ENST00000441246.2_Missense_Mutation_p.E828K|POLR2B_ENST00000314595.5_Missense_Mutation_p.E835K|POLR2B_ENST00000431623.2_Missense_Mutation_p.E760K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	835					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCCTACACGTGAAACATGCCA	0.373																																																	0													79.0	78.0	78.0					4																	57888400		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2503G>A	4.37:g.57888400G>A	ENSP00000370625:p.Glu835Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.E835K	ENST00000381227.1	37	c.2503	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989616	0.74589	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.77	5.77	0.91146	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	L	0.54908	1.71	0.80722	D	1	B;B	0.22211	0.066;0.066	B;B	0.29440	0.102;0.102	T	0.64736	-0.6337	10	0.35671	T	0.21	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	760;835	C9J4M6;P30876	.;RPB2_HUMAN	K	835;760;828;835	ENSP00000370625:E835K;ENSP00000391096:E760K;ENSP00000391452:E828K;ENSP00000312735:E835K	ENSP00000312735:E835K	E	+	1	0	POLR2B	57583157	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.717000	0.98755	2.744000	0.94065	0.561000	0.74099	GAA	POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6		0.373	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	G	NM_000938		57888400	+1	no_errors	ENST00000314595	ensembl	human	known	70_37	missense	SNP	1.000	A
POLR2F	5435	genome.wustl.edu	37	22	38355371	38355371	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38355371G>A	ENST00000442738.2	+	3	234	c.109G>A	c.(109-111)Gag>Aag	p.E37K	POLR2F_ENST00000407936.1_Missense_Mutation_p.E37K|POLR2F_ENST00000606538.1_Missense_Mutation_p.E37K|POLR2F_ENST00000488684.1_Silent_p.S56S|POLR2F_ENST00000470701.1_Missense_Mutation_p.E32K|POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000405557.1_Missense_Mutation_p.E37K	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	37					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GGAGAATGTCGAGATCCTCCC	0.552																																																	0													207.0	198.0	201.0					22																	38355371		2203	4300	6503	SO:0001583	missense	5435				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.109G>A	22.37:g.38355371G>A	ENSP00000403852:p.Glu37Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P41584|Q6IAY3	Missense_Mutation	SNP	pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2	p.E37K	ENST00000442738.2	37	c.109	CCDS13963.1	22	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004296	0.19199	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	4.98	3.96	0.45880	RNA polymerase subunit, RPB6/omega (1);	0.105212	0.64402	D	0.000004	T	0.50735	0.1633	L	0.43923	1.385	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	9	0.11794	T	0.64	.	13.3931	0.60834	0.0764:0.0:0.9236:0.0	.	37	P61218	RPAB2_HUMAN	K	37	.	ENSP00000384112:E37K	E	+	1	0	POLR2F	36685317	1.000000	0.71417	0.810000	0.32431	0.050000	0.14768	5.588000	0.67517	1.224000	0.43551	0.655000	0.94253	GAG	POLR2F	-	superfamily_RNA_poly_omega/K/RPABC2		0.552	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2F	HGNC	protein_coding	OTTHUMT00000321570.1	G	NM_021974		38355371	+1	no_errors	ENST00000442738	ensembl	human	known	70_37	missense	SNP	0.994	A
POLR3E	55718	genome.wustl.edu	37	16	22339866	22339866	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:22339866G>A	ENST00000299853.5	+	19	2069	c.1902G>A	c.(1900-1902)caG>caA	p.Q634Q	POLR3E_ENST00000359210.4_Silent_p.Q634Q|POLR3E_ENST00000564209.1_Silent_p.Q634Q|POLR3E_ENST00000418581.2_Silent_p.Q598Q	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	634					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CGGATGAGCAGAAGGTGTTTG	0.572																																																	0													130.0	111.0	118.0					16																	22339866		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1902G>A	16.37:g.22339866G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.Q634	ENST00000299853.5	37	c.1902	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.572	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22339866	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	1.000	A
POLR3E	55718	genome.wustl.edu	37	16	22339899	22339899	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:22339899G>C	ENST00000299853.5	+	19	2102	c.1935G>C	c.(1933-1935)atG>atC	p.M645I	POLR3E_ENST00000359210.4_Missense_Mutation_p.M645I|POLR3E_ENST00000564209.1_Missense_Mutation_p.M645I|POLR3E_ENST00000418581.2_Missense_Mutation_p.M609I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	645					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGGAGACATGAGTGATCAGG	0.592																																																	0													129.0	114.0	119.0					16																	22339899		2197	4300	6497	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1935G>C	16.37:g.22339899G>C	ENSP00000299853:p.Met645Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.M645I	ENST00000299853.5	37	c.1935	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593001	0.28357	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.41758	0.99;1.0;0.99	5.56	3.54	0.40534	.	0.508960	0.24544	N	0.037611	T	0.20820	0.0501	N	0.03608	-0.345	0.24646	N	0.993541	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.20371	-1.0277	10	0.87932	D	0	-14.47	10.2409	0.43312	0.0:0.1166:0.4972:0.3862	.	589;609;645;645;645	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0	.;.;.;.;RPC5_HUMAN	I	645;645;609	ENSP00000299853:M645I;ENSP00000352140:M645I;ENSP00000399254:M609I	ENSP00000299853:M645I	M	+	3	0	POLR3E	22247400	0.992000	0.36948	0.998000	0.56505	0.896000	0.52359	1.390000	0.34464	0.669000	0.31146	0.462000	0.41574	ATG	POLR3E	-	NULL		0.592	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22339899	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	missense	SNP	1.000	C
POM121L12	285877	genome.wustl.edu	37	7	53103781	53103781	+	Silent	SNP	C	C	T	rs534712268		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:53103781C>T	ENST00000408890.4	+	1	433	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	139								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTGACCATCGGGATCGCGC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		12104	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)											24.0	28.0	27.0					7																	53103781		1967	4116	6083	SO:0001819	synonymous_variant	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.417C>T	7.37:g.53103781C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDI9	Silent	SNP	NULL	p.I139	ENST00000408890.4	37	c.417	CCDS43584.1	7																																																																																			POM121L12	-	NULL		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	C	NM_182595		53103781	+1	no_errors	ENST00000408890	ensembl	human	known	70_37	silent	SNP	0.001	T
POM121L9P	29774	genome.wustl.edu	37	22	24647929	24647929	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:24647929C>T	ENST00000414583.2	+	0	134					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GCTGTGTGCTCCGAGTTCCAG	0.582																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24647929C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-		0.582	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	C	NM_014549		24647929	+1	no_errors	ENST00000414583	ensembl	human	known	70_37	rna	SNP	0.001	T
POMT1	10585	genome.wustl.edu	37	9	134397656	134397656	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134397656C>T	ENST00000372228.3	+	19	2248				RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000354713.4_Intron|POMT1_ENST00000485278.1_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000423007.1_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000402686.3_Intron|POMT1_ENST00000404875.2_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1						carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CAGCAGCCCTCTGCTGGGAAG	0.622																																																	0													44.0	37.0	39.0					9																	134397656		2203	4300	6503	SO:0001627	intron_variant	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.2069+45C>T	9.37:g.134397656C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	RNA	SNP	-	NULL	ENST00000372228.3	37	NULL	CCDS6943.1	9																																																																																			POMT1	-	-		0.622	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	C	NM_007171		134397656	+1	no_errors	ENST00000494883	ensembl	human	known	70_37	rna	SNP	0.000	T
POP4	10775	genome.wustl.edu	37	19	30104848	30104848	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:30104848C>T	ENST00000585603.1	+	6	2797	c.495C>T	c.(493-495)ttC>ttT	p.F165F	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_Silent_p.F41F|POP4_ENST00000392279.3_Silent_p.F84F			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	165					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGCACATTTTCAAAATTATCA	0.458																																					Melanoma(89;1165 1449 14085 34436 43672)												0													92.0	86.0	88.0					19																	30104848		2203	4300	6503	SO:0001819	synonymous_variant	10775			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.495C>T	19.37:g.30104848C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XKL7|Q6FHW9|Q9UQQ3	Silent	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.F165	ENST00000585603.1	37	c.495	CCDS12416.1	19																																																																																			POP4	-	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit		0.458	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	C	NM_006627		30104848	+1	no_errors	ENST00000585603	ensembl	human	known	70_37	silent	SNP	1.000	T
PPARGC1B	133522	genome.wustl.edu	37	5	149206428	149206428	+	Missense_Mutation	SNP	G	G	A	rs372010949		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149206428G>A	ENST00000309241.5	+	3	477	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E149K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E149K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E124K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	149					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCAGCCCCTGAGGTGGACGA	0.607																																																	0													44.0	51.0	48.0					5																	149206428		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.445G>A	5.37:g.149206428G>A	ENSP00000312649:p.Glu149Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E149K	ENST00000309241.5	37	c.445	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556330	0.65425	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.23348	2.88;1.91;1.95;2.91	5.27	5.27	0.74061	.	0.304911	0.37623	N	0.002005	T	0.35307	0.0927	M	0.71206	2.165	0.41008	D	0.984988	P;P;P;P;P	0.52316	0.925;0.925;0.925;0.952;0.873	B;P;B;B;B	0.47162	0.443;0.54;0.443;0.417;0.385	T	0.16808	-1.0390	10	0.17832	T	0.49	-10.6407	16.6886	0.85315	0.0:0.0:1.0:0.0	.	128;128;149;149;149	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	K	149;149;149;124	ENSP00000353638:E149K;ENSP00000377855:E149K;ENSP00000312649:E149K;ENSP00000384403:E124K	ENSP00000312649:E149K	E	+	1	0	PPARGC1B	149186621	1.000000	0.71417	0.293000	0.24932	0.202000	0.24057	6.172000	0.71932	2.466000	0.83321	0.650000	0.86243	GAG	PPARGC1B	-	NULL		0.607	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	G	NM_133263		149206428	+1	no_errors	ENST00000309241	ensembl	human	known	70_37	missense	SNP	1.000	A
PPEF2	5470	genome.wustl.edu	37	4	76793176	76793176	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:76793176G>A	ENST00000286719.7	-	13	2006		c.e13+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAAAGTCTTGCCTTTGCCTC	0.403																																					NSCLC(105;1359 1603 15961 44567 47947)												0													115.0	106.0	109.0					4																	76793176		2203	4300	6503	SO:0001630	splice_region_variant	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1649+1C>T	4.37:g.76793176G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14831	Splice_Site	SNP	-	e12+2	ENST00000286719.7	37	c.1649+2	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071931	0.55646	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	4.61	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.016	0.19603	0.2917:0.0:0.7083:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77012200	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.718000	0.47236	1.288000	0.44600	0.491000	0.48974	.	PPEF2	-	-		0.403	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	G	NM_006239	Intron	76793176	-1	no_errors	ENST00000286719	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PPFIA1	8500	genome.wustl.edu	37	11	70171018	70171018	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:70171018G>A	ENST00000253925.7	+	4	647	c.432G>A	c.(430-432)gtG>gtA	p.V144V	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.V144V|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	144					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACCGTGGTGAAGAGACAAG	0.473																																																	0													127.0	131.0	130.0					11																	70171018		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.432G>A	11.37:g.70171018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V144	ENST00000253925.7	37	c.432	CCDS31627.1	11																																																																																			PPFIA1	-	NULL		0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70171018	+1	no_errors	ENST00000253925	ensembl	human	known	70_37	silent	SNP	0.998	A
PPFIA1	8500	genome.wustl.edu	37	11	70222689	70222689	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:70222689G>A	ENST00000253925.7	+	25	3582	c.3367G>A	c.(3367-3369)Gat>Aat	p.D1123N	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D1123N|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1123				GTD -> PEF (in Ref. 4; BAA08353). {ECO:0000305}.	cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATGGGGACTGATAGAAGGTT	0.313																																																	0													178.0	175.0	176.0					11																	70222689		2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3367G>A	11.37:g.70222689G>A	ENSP00000253925:p.Asp1123Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D1123N	ENST00000253925.7	37	c.3367	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735969	0.69189	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.18657	2.22;2.2	5.13	4.22	0.49857	Sterile alpha motif/pointed domain (1);	0.063541	0.64402	U	0.000012	T	0.29256	0.0728	M	0.64404	1.975	0.47949	D	0.999557	B;B;B	0.32425	0.226;0.371;0.313	B;B;B	0.39660	0.306;0.194;0.267	T	0.10590	-1.0623	10	0.87932	D	0	.	13.2494	0.60043	0.0763:0.0:0.9237:0.0	.	620;1123;1123	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	1123;1123;620	ENSP00000253925:D1123N;ENSP00000374198:D1123N	ENSP00000253925:D1123N	D	+	1	0	PPFIA1	69900337	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	9.046000	0.93817	1.162000	0.42619	0.655000	0.94253	GAT	PPFIA1	-	superfamily_SAM/pointed		0.313	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70222689	+1	no_errors	ENST00000253925	ensembl	human	known	70_37	missense	SNP	1.000	A
PPFIA3	8541	genome.wustl.edu	37	19	49637098	49637098	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49637098G>C	ENST00000334186.4	+	10	1556	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E403Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	403					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGGCAGCTGGAGGCCCAGCT	0.602																																																	0													31.0	33.0	32.0					19																	49637098		2203	4300	6503	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1207G>C	19.37:g.49637098G>C	ENSP00000335614:p.Glu403Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E403Q	ENST00000334186.4	37	c.1207	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931137	0.92389	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.36520	1.25	4.01	4.01	0.46588	.	0.000000	0.45867	U	0.000330	T	0.61489	0.2351	M	0.80982	2.52	0.58432	D	0.999999	D;D;P	0.89917	1.0;0.997;0.935	D;D;P	0.91635	0.999;0.94;0.864	T	0.66976	-0.5787	10	0.51188	T	0.08	-19.1833	15.2798	0.73773	0.0:0.0:1.0:0.0	.	327;403;403	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	Q	403;327	ENSP00000335614:E403Q	ENSP00000335614:E403Q	E	+	1	0	PPFIA3	54328910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	1.948000	0.56530	0.655000	0.94253	GAG	PPFIA3	-	NULL		0.602	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49637098	+1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	C
PPIB	5479	genome.wustl.edu	37	15	64454326	64454326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:64454326C>A	ENST00000300026.3	-	2	381	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	55	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCTACATCTTCATCTCCAATT	0.463																																					GBM(105;399 1481 32889 33051 36637)												0													200.0	210.0	207.0					15																	64454326		2203	4300	6503	SO:0001587	stop_gained	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.163G>T	15.37:g.64454326C>A	ENSP00000300026:p.Glu55*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K534|Q6IBH5|Q9BVK5	Nonsense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E55*	ENST00000300026.3	37	c.163	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.121608	0.97300	.	.	ENSG00000166794	ENST00000300026	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.1484	0.93477	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000300026:E55X	E	-	1	0	PPIB	62241379	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	1.404000	0.34623	2.625000	0.88918	0.455000	0.32223	GAA	PPIB	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.463	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	C			64454326	-1	no_errors	ENST00000300026	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PPIP5K2	23262	genome.wustl.edu	37	5	102515860	102515860	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:102515860C>T	ENST00000358359.3	+	24	3402	c.2893C>T	c.(2893-2895)Cca>Tca	p.P965S	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P965S|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.P965S|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	965					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTCTCCACTTCCAAGATCTAG	0.323																																																	0													87.0	84.0	85.0					5																	102515860		2203	4300	6503	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2893C>T	5.37:g.102515860C>T	ENSP00000351126:p.Pro965Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.P965S	ENST00000358359.3	37	c.2893		5	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954524	0.34471	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.21361	2.63;2.63;2.63;2.01	5.98	4.12	0.48240	.	0.152119	0.46145	D	0.000315	T	0.15696	0.0378	L	0.48642	1.525	0.40925	D	0.984341	B;B;B	0.25563	0.08;0.026;0.129	B;B;B	0.23275	0.045;0.025;0.045	T	0.03043	-1.1079	10	0.08599	T	0.76	.	10.555	0.45112	0.1338:0.7957:0.0:0.0705	.	980;965;965	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	S	965;965;980;965;239	ENSP00000313070:P965S;ENSP00000351126:P965S;ENSP00000416016:P965S;ENSP00000424948:P239S	ENSP00000313070:P965S	P	+	1	0	PPIP5K2	102543759	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.840000	0.48215	2.838000	0.97847	0.591000	0.81541	CCA	PPIP5K2	-	NULL		0.323	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	C	NM_015216		102515860	+1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	T
PPM1G	5496	genome.wustl.edu	37	2	27607593	27607593	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27607593C>G	ENST00000344034.4	-	5	1036	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	PPM1G_ENST00000350803.4_Missense_Mutation_p.E258Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	258	Asp/Glu-rich (acidic).				cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TCACTGTCCTCAAAGAACTTG	0.562																																																	0													124.0	114.0	117.0					2																	27607593		2203	4300	6503	SO:0001583	missense	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.772G>C	2.37:g.27607593C>G	ENSP00000342778:p.Glu258Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E258Q	ENST00000344034.4	37	c.772	CCDS1752.1	2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679914	0.68042	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.48522	0.81;0.81	5.64	5.64	0.86602	Protein phosphatase 2C-like (3);	16.637500	0.00166	N	0.000000	T	0.56321	0.1977	M	0.64997	1.995	0.51482	D	0.999921	P;P	0.47762	0.761;0.9	B;B	0.42827	0.399;0.362	T	0.55879	-0.8071	10	0.15952	T	0.53	-13.5037	18.2516	0.90005	0.0:1.0:0.0:0.0	.	59;258	Q59GB2;O15355	.;PPM1G_HUMAN	Q	258;258;241;59	ENSP00000342778:E258Q;ENSP00000264714:E258Q	ENSP00000342778:E258Q	E	-	1	0	PPM1G	27461097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.670000	0.90874	0.655000	0.94253	GAG	PPM1G	-	superfamily_PP2C-like,smart_PP2C-like		0.562	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1G	HGNC	protein_coding	OTTHUMT00000215032.1	C	NM_002707		27607593	-1	no_errors	ENST00000344034	ensembl	human	known	70_37	missense	SNP	1.000	G
PPM1M	132160	genome.wustl.edu	37	3	52280796	52280796	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:52280796G>A	ENST00000296487.4	+	0	231				PPM1M_ENST00000457351.2_Missense_Mutation_p.E104K|PPM1M_ENST00000323588.4_5'UTR|PPM1M_ENST00000409502.3_5'UTR			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M						protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTTTGGGGCTGAAGAAGAGTG	0.562																																					NSCLC(151;810 2688 34365 49863)												0																																										SO:0001623	5_prime_UTR_variant	132160			AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.-174G>A	3.37:g.52280796G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E104K	ENST00000296487.4	37	c.310		3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542563	0.27563	.	.	ENSG00000164088	ENST00000457351	T	0.22945	1.93	4.54	2.68	0.31781	.	.	.	.	.	T	0.15565	0.0375	L	0.40543	1.245	0.22366	N	0.999164	P	0.38922	0.651	B	0.30401	0.115	T	0.09618	-1.0666	9	0.11182	T	0.66	.	9.2943	0.37806	0.1729:0.0:0.8271:0.0	.	104	B7XGB9	.	K	104	ENSP00000393747:E104K	ENSP00000393747:E104K	E	+	1	0	PPM1M	52255836	0.009000	0.17119	0.375000	0.26029	0.950000	0.60333	1.259000	0.32956	1.107000	0.41642	0.561000	0.74099	GAA	PPM1M	-	superfamily_PP2C-like,smart_PP2C-like		0.562	PPM1M-001	KNOWN	basic	protein_coding	PPM1M	HGNC	protein_coding	OTTHUMT00000329230.2	G	NM_144641		52280796	+1	no_errors	ENST00000457351	ensembl	human	known	70_37	missense	SNP	0.066	A
PPP1CA	5499	genome.wustl.edu	37	11	67168224	67168224	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:67168224G>A	ENST00000376745.4	-	3	502	c.354C>T	c.(352-354)ttC>ttT	p.F118F	PPP1CA_ENST00000358239.4_Silent_p.F74F|PPP1CA_ENST00000312989.7_Silent_p.F129F|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	118					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGAGCAGGAAGAAGTTCTCGG	0.567																																																	0													122.0	111.0	115.0					11																	67168224		2200	4295	6495	SO:0001819	synonymous_variant	5499				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.354C>T	11.37:g.67168224G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.F129	ENST00000376745.4	37	c.387	CCDS8160.1	11																																																																																			PPP1CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.567	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CA	HGNC	protein_coding	OTTHUMT00000395487.1	G	NM_002708		67168224	-1	no_errors	ENST00000312989	ensembl	human	known	70_37	silent	SNP	1.000	A
PPP1R10	5514	genome.wustl.edu	37	6	30573980	30573980	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30573980C>G	ENST00000376511.2	-	9	1227	c.675G>C	c.(673-675)aaG>aaC	p.K225N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	225	Interaction with TOX4. {ECO:0000250}.			K -> E (in Ref. 1; CAA73697). {ECO:0000305}.	protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCTGGCATTCTTCTTCACAG	0.527																																																	0													125.0	109.0	115.0					6																	30573980		1511	2709	4220	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.675G>C	6.37:g.30573980C>G	ENSP00000365694:p.Lys225Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.K225N	ENST00000376511.2	37	c.675	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274489	0.59649	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.56776	0.44	5.28	5.28	0.74379	.	0.098485	0.64402	D	0.000002	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	D	0.78314	0.991	T	0.53940	-0.8367	10	0.54805	T	0.06	-16.2406	11.2198	0.48848	0.0:0.9149:0.0:0.0851	.	225	Q96QC0	PP1RA_HUMAN	N	225	ENSP00000365694:K225N	ENSP00000365694:K225N	K	-	3	2	PPP1R10	30681959	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.174000	0.58256	2.465000	0.83290	0.591000	0.81541	AAG	PPP1R10	-	NULL		0.527	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30573980	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R16B	26051	genome.wustl.edu	37	20	37531352	37531352	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:37531352G>A	ENST00000299824.1	+	6	802	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E205K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	205					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGTGGCTCCTGAGCAGCAGAT	0.587																																																	0													121.0	101.0	108.0					20																	37531352		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.613G>A	20.37:g.37531352G>A	ENSP00000299824:p.Glu205Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E205K	ENST00000299824.1	37	c.613	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.530921	0.96446	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.52754	0.65;0.65	4.42	4.42	0.53409	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.71052	-0.4704	10	0.48119	T	0.1	.	17.5774	0.87955	0.0:0.0:1.0:0.0	.	205;205	E9PFS8;Q96T49	.;PP16B_HUMAN	K	205	ENSP00000299824:E205K;ENSP00000362428:E205K	ENSP00000299824:E205K	E	+	1	0	PPP1R16B	36964766	1.000000	0.71417	0.967000	0.41034	0.978000	0.69477	9.345000	0.97053	2.440000	0.82611	0.655000	0.94253	GAG	PPP1R16B	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom		0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	G	NM_015568		37531352	+1	no_errors	ENST00000299824	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R1A	5502	genome.wustl.edu	37	12	54975847	54975847	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:54975847C>T	ENST00000257905.8	-	5	486	c.316G>A	c.(316-318)Gag>Aag	p.E106K	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	106					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TCTGTGCTCTCAGCGGCCCCC	0.582																																																	0													61.0	63.0	63.0					12																	54975847		1914	4128	6042	SO:0001583	missense	5502			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.316G>A	12.37:g.54975847C>T	ENSP00000257905:p.Glu106Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.E106K	ENST00000257905.8	37	c.316	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461963	0.26248	.	.	ENSG00000135447	ENST00000257905	T	0.32988	1.43	5.28	3.46	0.39613	.	0.790050	0.11503	N	0.557521	T	0.30510	0.0767	L	0.58810	1.83	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.27739	-1.0065	10	0.66056	D	0.02	.	7.9798	0.30177	0.0:0.8128:0.0:0.1872	.	106	Q13522	PPR1A_HUMAN	K	106	ENSP00000257905:E106K	ENSP00000257905:E106K	E	-	1	0	PPP1R1A	53262114	0.004000	0.15560	0.295000	0.24960	0.144000	0.21451	1.379000	0.34340	0.732000	0.32470	0.655000	0.94253	GAG	PPP1R1A	-	pfam_PPI_1DARPP-32		0.582	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	C	NM_006741		54975847	-1	no_errors	ENST00000257905	ensembl	human	known	70_37	missense	SNP	0.111	T
PPP1R21	129285	genome.wustl.edu	37	2	48718244	48718244	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:48718244C>G	ENST00000294952.8	+	15	1691	c.1534C>G	c.(1534-1536)Ctt>Gtt	p.L512V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.L512V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L512V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	512						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATTAGTCCTCTTTCAGCTGA	0.383																																																	0													136.0	127.0	130.0					2																	48718244		2203	4300	6503	SO:0001583	missense	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1534C>G	2.37:g.48718244C>G	ENSP00000294952:p.Leu512Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like	p.L512V	ENST00000294952.8	37	c.1534	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464843	0.26335	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.51	4.58	0.56647	.	0.185525	0.47852	D	0.000203	T	0.43964	0.1271	N	0.25890	0.77	0.39510	D	0.968346	B;B;B;B	0.11235	0.003;0.001;0.003;0.004	B;B;B;B	0.10450	0.005;0.004;0.004;0.003	T	0.30736	-0.9968	9	0.22706	T	0.39	-4.1035	14.7125	0.69244	0.0:0.7365:0.2634:0.0	.	512;512;512;512	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	V	512	.	ENSP00000281394:L512V	L	+	1	0	KLRAQ1	48571748	0.596000	0.26866	0.967000	0.41034	0.994000	0.84299	2.588000	0.46137	2.741000	0.93983	0.650000	0.86243	CTT	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C		0.383	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48718244	+1	no_errors	ENST00000294952	ensembl	human	known	70_37	missense	SNP	0.981	G
PPP1R42	286187	genome.wustl.edu	37	8	67926753	67926753	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:67926753C>T	ENST00000324682.5	-	3	348	c.204G>A	c.(202-204)ctG>ctA	p.L68L	PPP1R42_ENST00000522909.1_Silent_p.L68L|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	68					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TGGCATAATTCAGGTTAGTGA	0.318																																																	0													95.0	105.0	102.0					8																	67926753		2203	4289	6492	SO:0001819	synonymous_variant	286187			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.204G>A	8.37:g.67926753C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt	p.L68	ENST00000324682.5	37	c.204	CCDS34902.1	8																																																																																			PPP1R42	-	NULL		0.318	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R42	HGNC	protein_coding	OTTHUMT00000380034.2	C	NM_001013626		67926753	-1	no_errors	ENST00000522909	ensembl	human	known	70_37	silent	SNP	1.000	T
PPP1R8	5511	genome.wustl.edu	37	1	28165230	28165230	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:28165230G>C	ENST00000311772.5	+	3	196	c.138G>C	c.(136-138)aaG>aaC	p.K46N	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	46	Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TTGATGAGAAGAAGTATTACT	0.343																																																	0													61.0	54.0	57.0					1																	28165230		2203	4300	6503	SO:0001583	missense	5511			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.138G>C	1.37:g.28165230G>C	ENSP00000311677:p.Lys46Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K46N	ENST00000311772.5	37	c.138	CCDS311.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233480	0.79688	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	T	0.36157	1.27	6.17	5.25	0.73442	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.66376	-0.5939	10	0.72032	D	0.01	-20.0105	12.926	0.58260	0.1314:0.0:0.8686:0.0	.	46	Q12972	PP1R8_HUMAN	N	46	ENSP00000311677:K46N	ENSP00000311677:K46N	K	+	3	2	PPP1R8	28037817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.178000	0.71968	1.596000	0.50062	0.655000	0.94253	AAG	PPP1R8	-	superfamily_SMAD_FHA_domain		0.343	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	G	NM_014110		28165230	+1	no_errors	ENST00000311772	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1R9A	55607	genome.wustl.edu	37	7	94740697	94740697	+	Missense_Mutation	SNP	G	G	C	rs140118821	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:94740697G>C	ENST00000433881.1	+	3	2054	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E508Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	508	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTGGAGCTAGAGAAAGGTTC	0.378										HNSCC(28;0.073)			G|||	2	0.000399361	0.0	0.0	5008	,	,		16667	0.0		0.0	False		,,,				2504	0.002																0								G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	58.0	58.0	58.0		1522,1522,1522,1522,1522	5.0	1.0	7	dbSNP_134	58	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	29,29,29,29,29	0,9,6494	CC,CG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	508/1375,508/1297,508/1254,508/1091,508/1099	94740697	9,12997	2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1522G>C	7.37:g.94740697G>C	ENSP00000398870:p.Glu508Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E508Q	ENST00000433881.1	37	c.1522	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018197	0.35606	0.0	0.001047	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.21373	0.66	0.80722	D	1	B;B;B;B;B	0.28400	0.024;0.136;0.015;0.21;0.01	B;B;B;B;B	0.27262	0.068;0.078;0.056;0.071;0.068	T	0.05419	-1.0886	10	0.56958	D	0.05	.	15.244	0.73493	0.0:0.1405:0.8594:0.0	.	508;508;508;508;508	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Q	508	ENSP00000405514:E508Q;ENSP00000344524:E508Q;ENSP00000411342:E508Q;ENSP00000398870:E508Q;ENSP00000289495:E508Q;ENSP00000402893:E508Q	ENSP00000289495:E508Q	E	+	1	0	PPP1R9A	94578633	1.000000	0.71417	0.968000	0.41197	0.122000	0.20287	7.656000	0.83736	2.755000	0.94549	0.650000	0.86243	GAG	PPP1R9A	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.378	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94740697	+1	no_errors	ENST00000289495	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1R9B	84687	genome.wustl.edu	37	17	48221036	48221036	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:48221036C>G	ENST00000316878.6	-	5	1548	c.1546G>C	c.(1546-1548)Gac>Cac	p.D516H	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	516	Interacts with RGS2. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGCCCATGTCTGCCCCGGCG	0.627																																																	0													77.0	87.0	84.0					17																	48221036		2104	4216	6320	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1546G>C	17.37:g.48221036C>G	ENSP00000475417:p.Asp516His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-		0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		C	NM_032595		48221036	-1	no_errors	ENST00000316878	ensembl	human	known	70_37	rna	SNP	1.000	G
PPP2R3A	5523	genome.wustl.edu	37	3	135822161	135822161	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:135822161C>G	ENST00000264977.3	+	12	3782	c.3165C>G	c.(3163-3165)ttC>ttG	p.F1055L	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.F434L|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.F319L|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1055					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGACACTTTCTTTAATCTGG	0.358																																																	0													92.0	92.0	92.0					3																	135822161		2203	4300	6503	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3165C>G	3.37:g.135822161C>G	ENSP00000264977:p.Phe1055Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.F1055L	ENST00000264977.3	37	c.3165	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298987	0.60195	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.39592	1.07;1.07;1.07	5.47	5.47	0.80525	.	0.048891	0.85682	D	0.000000	T	0.44932	0.1317	N	0.25890	0.77	0.80722	D	1	P;P	0.52061	0.95;0.942	P;P	0.54346	0.652;0.749	T	0.11012	-1.0605	10	0.20046	T	0.44	.	18.6894	0.91577	0.0:1.0:0.0:0.0	.	434;1055	Q06190-2;Q06190	.;P2R3A_HUMAN	L	1055;319;434	ENSP00000264977:F1055L;ENSP00000419344:F319L;ENSP00000334748:F434L	ENSP00000264977:F1055L	F	+	3	2	PPP2R3A	137304851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.136000	0.50554	2.724000	0.93272	0.561000	0.74099	TTC	PPP2R3A	-	NULL		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	C	NM_002718		135822161	+1	no_errors	ENST00000264977	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP4R1	9989	genome.wustl.edu	37	18	9562029	9562029	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:9562029C>G	ENST00000400556.3	-	13	1864	c.1791G>C	c.(1789-1791)ttG>ttC	p.L597F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L580F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	597					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATTGTTGCTCAAGTCTGAAT	0.373																																					Melanoma(188;1232 2082 5061 11948 35994)												0													169.0	158.0	161.0					18																	9562029		1882	4101	5983	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1791G>C	18.37:g.9562029C>G	ENSP00000383402:p.Leu597Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L597F	ENST00000400556.3	37	c.1791	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165480	0.21538	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.20463	2.08;2.07	5.5	4.62	0.57501	Armadillo-type fold (1);	0.335595	0.20502	N	0.091065	T	0.27063	0.0663	L	0.60455	1.87	0.37315	D	0.90929	B;P;B	0.34587	0.164;0.458;0.006	B;B;B	0.42188	0.071;0.379;0.029	T	0.13072	-1.0523	9	.	.	.	-2.4263	10.5933	0.45323	0.0:0.8443:0.0:0.1557	.	580;597;580	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	F	597;580	ENSP00000383402:L597F;ENSP00000383401:L580F	.	L	-	3	2	PPP4R1	9552029	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	1.354000	0.34056	1.310000	0.45006	0.655000	0.94253	TTG	PPP4R1	-	superfamily_ARM-type_fold		0.373	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	C	NM_005134		9562029	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP6R2	9701	genome.wustl.edu	37	22	50845122	50845122	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50845122C>G	ENST00000216061.5	+	5	602	c.232C>G	c.(232-234)Cca>Gca	p.P78A	PPP6R2_ENST00000395744.3_Missense_Mutation_p.P78A|PPP6R2_ENST00000395741.3_Missense_Mutation_p.P78A|PPP6R2_ENST00000359139.3_Missense_Mutation_p.P78A			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	78						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						TTTTAGATATCCAAACACAGC	0.522																																																	0													133.0	124.0	127.0					22																	50845122		2203	4300	6503	SO:0001583	missense	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.232C>G	22.37:g.50845122C>G	ENSP00000216061:p.Pro78Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.P78A	ENST00000216061.5	37	c.232		22	.	.	.	.	.	.	.	.	.	.	c	20.4	3.990221	0.74589	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.38838	1.175	0.54753	D	0.999984	P;P;P;P;B	0.44776	0.633;0.735;0.843;0.827;0.4	B;B;P;B;P	0.48952	0.221;0.23;0.596;0.406;0.477	T	0.04128	-1.0975	10	0.62326	D	0.03	-6.2939	17.6863	0.88257	0.0:1.0:0.0:0.0	.	78;78;78;78;78	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	A	78	ENSP00000352051:P78A;ENSP00000379090:P78A;ENSP00000379093:P78A;ENSP00000216061:P78A	ENSP00000216061:P78A	P	+	1	0	PPP6R2	49191988	0.990000	0.36364	0.997000	0.53966	0.994000	0.84299	3.008000	0.49544	2.478000	0.83669	0.550000	0.68814	CCA	PPP6R2	-	superfamily_ARM-type_fold		0.522	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	C	NM_014678		50845122	+1	no_errors	ENST00000216061	ensembl	human	known	70_37	missense	SNP	1.000	G
PRAMEF20	645425	genome.wustl.edu	37	1	13743092	13743092	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:13743092G>A	ENST00000602960.1	+	1	285	c.281G>A	c.(280-282)cGt>cAt	p.R94H	PRAMEF20_ENST00000316412.5_Missense_Mutation_p.R94H			Q5VT98	PRA20_HUMAN	PRAME family member 20	94					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGGGTTCGTCTCAGGTGA	0.607																																																	0													32.0	33.0	33.0					1																	13743092		2183	4256	6439	SO:0001583	missense	645425				CCDS41265.1	1p36.21	2014-07-15			ENSG00000204478	ENSG00000204478		"""-"""	25224	protein-coding gene	gene with protein product			"""PRAME family member 21"""	PRAMEF21			Standard	NM_001099852		Approved	OTTHUMG00000007911, OTTHUMT00000008157	uc009vnv.1	Q5VT98	OTTHUMG00000007911	ENST00000602960.1:c.281G>A	1.37:g.13743092G>A	ENSP00000473584:p.Arg94His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R94H	ENST00000602960.1	37	c.281	CCDS41265.1	1	.	.	.	.	.	.	.	.	.	.	.	5.103	0.204696	0.09704	.	.	ENSG00000204478	ENST00000316412	T	0.04758	3.56	1.51	-0.589	0.11683	.	1.302520	0.05142	N	0.494379	T	0.04679	0.0127	L	0.41824	1.3	0.09310	N	1	.	.	.	.	.	.	T	0.45731	-0.9241	8	0.14656	T	0.56	.	4.0289	0.09700	0.4469:0.0:0.5531:0.0	.	.	.	.	H	94	ENSP00000346275:R94H	ENSP00000346275:R94H	R	+	2	0	PRAMEF20	13615679	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-2.236000	0.01201	-0.157000	0.11059	0.306000	0.20318	CGT	PRAMEF20	-	NULL		0.607	PRAMEF20-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	PRAMEF20	HGNC	protein_coding	OTTHUMT00000021782.1	G	NM_001099852		13743092	+1	no_errors	ENST00000316412	ensembl	human	known	70_37	missense	SNP	0.001	A
PRB3	5544	genome.wustl.edu	37	12	11420626	11420626	+	Missense_Mutation	SNP	G	G	T	rs113564509	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:11420626G>T	ENST00000279573.7	-	3	692	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	PRB3_ENST00000538488.1_Missense_Mutation_p.P165Q|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P186Q			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	186	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).|P -> Q (in dbSNP:rs11054208). {ECO:0000269|PubMed:15489334}.		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTGTGGGGGTGGTCCTTCTGG	0.642													G|||	32	0.00638978	0.0015	0.0014	5008	,	,		12066	0.0248		0.001	False		,,,				2504	0.0031																0													110.0	137.0	129.0					12																	11420626		1861	4075	5936	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.557C>A	12.37:g.11420626G>T	ENSP00000279573:p.Pro186Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P186Q	ENST00000279573.7	37	c.557		12	.	.	.	.	.	.	.	.	.	.	.	0.463	-0.888202	0.02511	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.09445	2.98;2.98	1.2	1.2	0.21068	.	1.949310	0.05096	U	0.486104	T	0.06645	0.0170	.	.	.	0.09310	N	1	B	0.31077	0.307	B	0.24269	0.052	T	0.34502	-0.9826	9	0.33141	T	0.24	.	4.6618	0.12646	0.0:0.0:0.6292:0.3708	rs11054208	186	Q04118	PRB3_HUMAN	Q	186;165	ENSP00000371264:P186Q;ENSP00000442626:P165Q	ENSP00000279573:P186Q	P	-	2	0	PRB3	11311893	0.007000	0.16637	0.003000	0.11579	0.009000	0.06853	0.051000	0.14141	1.005000	0.39183	0.391000	0.25812	CCA	PRB3	-	NULL		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420626	-1	no_errors	ENST00000381842	ensembl	human	known	70_37	missense	SNP	0.048	T
PREPL	9581	genome.wustl.edu	37	2	44553900	44553900	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:44553900C>T	ENST00000409936.1	-	11	2134	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	PREPL_ENST00000409957.1_Missense_Mutation_p.G477E|PREPL_ENST00000410081.1_Missense_Mutation_p.G566E|PREPL_ENST00000541738.1_Missense_Mutation_p.G477E|PREPL_ENST00000260648.6_Missense_Mutation_p.G566E|PREPL_ENST00000378511.3_Missense_Mutation_p.G504E|PREPL_ENST00000409272.1_Missense_Mutation_p.G566E|PREPL_ENST00000409411.1_Missense_Mutation_p.G477E|PREPL_ENST00000378520.3_Missense_Mutation_p.G500E	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	566						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACACAATGCTCCTGCAAGCAC	0.498																																																	0													98.0	91.0	94.0					2																	44553900		2203	4300	6503	SO:0001583	missense	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1697G>A	2.37:g.44553900C>T	ENSP00000386543:p.Gly566Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.G566E	ENST00000409936.1	37	c.1697	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601938	0.87055	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.63	5.63	0.86233	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.053917	0.85682	D	0.000000	T	0.73442	0.3587	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.81709	-0.0809	10	0.87932	D	0	-15.541	19.6697	0.95907	0.0:1.0:0.0:0.0	.	504;500;566	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	E	477;477;477;566;566;566;566;500;504	ENSP00000439626:G477E;ENSP00000387095:G477E;ENSP00000387241:G477E;ENSP00000386543:G566E;ENSP00000260648:G566E;ENSP00000386909:G566E;ENSP00000386509:G566E;ENSP00000367781:G500E;ENSP00000367772:G504E	ENSP00000260648:G566E	G	-	2	0	PREPL	44407404	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.564000	0.60830	2.661000	0.90470	0.491000	0.48974	GGA	PREPL	-	pfam_Peptidase_S9,prints_Peptidase_S9A		0.498	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	C	NM_006036		44553900	-1	no_errors	ENST00000260648	ensembl	human	known	70_37	missense	SNP	1.000	T
PREX1	57580	genome.wustl.edu	37	20	47276504	47276504	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:47276504G>C	ENST00000371941.3	-	16	1856	c.1834C>G	c.(1834-1836)Cgc>Ggc	p.R612G	PREX1_ENST00000396220.1_Missense_Mutation_p.R612G	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	612					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)			AAGTCGTTGCGAAGCTGTTTG	0.577																																																	0													175.0	135.0	148.0					20																	47276504		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.1834C>G	20.37:g.47276504G>C	ENSP00000361009:p.Arg612Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	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.R612G	ENST00000371941.3	37	c.1834	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349424	0.82132	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14144	2.53;2.53	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (1);	0.000000	0.56097	U	0.000036	T	0.16854	0.0405	L	0.57536	1.79	0.58432	D	0.999999	P	0.39391	0.671	B	0.32022	0.139	T	0.02320	-1.1177	10	0.72032	D	0.01	.	18.8514	0.92232	0.0:0.0:1.0:0.0	.	612	Q8TCU6	PREX1_HUMAN	G	612	ENSP00000361009:R612G;ENSP00000379522:R612G	ENSP00000361009:R612G	R	-	1	0	PREX1	46709911	1.000000	0.71417	0.911000	0.35937	0.951000	0.60555	5.115000	0.64655	2.544000	0.85801	0.505000	0.49811	CGC	PREX1	-	superfamily_PDZ		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47276504	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.983	C
PRG4	10216	genome.wustl.edu	37	1	186275597	186275597	+	Missense_Mutation	SNP	C	C	T	rs113383997		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:186275597C>T	ENST00000445192.2	+	7	791	c.746C>T	c.(745-747)tCt>tTt	p.S249F	PRG4_ENST00000367483.4_Missense_Mutation_p.S208F|PRG4_ENST00000367484.3_Missense_Mutation_p.S208F|PRG4_ENST00000367485.4_Missense_Mutation_p.S156F|PRG4_ENST00000367486.3_Missense_Mutation_p.S206F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	249					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GTCAGCACATCTCCCAAGATC	0.438																																																	0													263.0	247.0	253.0					1																	186275597		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.746C>T	1.37:g.186275597C>T	ENSP00000399679:p.Ser249Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S249F	ENST00000445192.2	37	c.746	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392408	0.25118	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.49720	3.31;3.55;0.77;3.54;3.4;3.53	3.97	3.97	0.46021	.	1.017600	0.07917	U	0.975240	T	0.54287	0.1849	L	0.44542	1.39	0.22629	N	0.998911	D;D;P;P	0.54207	0.965;0.965;0.875;0.924	P;P;B;P	0.51135	0.66;0.568;0.276;0.466	T	0.50939	-0.8768	10	0.52906	T	0.07	-0.0809	14.9856	0.71345	0.0:1.0:0.0:0.0	.	115;156;249;208	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	F	206;208;158;115;208;156;249	ENSP00000356456:S206F;ENSP00000356454:S208F;ENSP00000431330:S158F;ENSP00000356453:S208F;ENSP00000356455:S156F;ENSP00000399679:S249F	ENSP00000356452:S115F	S	+	2	0	PRG4	184542220	0.017000	0.18338	0.970000	0.41538	0.784000	0.44337	2.343000	0.44001	1.931000	0.55961	0.467000	0.42956	TCT	PRG4	-	NULL		0.438	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186275597	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.923	T
PRKAB1	5564	genome.wustl.edu	37	12	120118157	120118157	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120118157G>A	ENST00000229328.5	+	0	1332				PRKAB1_ENST00000541640.1_3'UTR|PRKAB1_ENST00000537057.1_3'UTR|PRKAB1_ENST00000540121.1_3'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit						cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGTGGCCCAGGAGACAGCACA	0.527																																																	0													73.0	58.0	63.0					12																	120118157		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5564			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.*27G>A	12.37:g.120118157G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	RNA	SNP	-	NULL	ENST00000229328.5	37	NULL	CCDS9191.1	12																																																																																			PRKAB1	-	-		0.527	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB1	HGNC	protein_coding	OTTHUMT00000401731.2	G	NM_006253		120118157	+1	no_errors	ENST00000537057	ensembl	human	known	70_37	rna	SNP	0.000	A
PRKACA	5566	genome.wustl.edu	37	19	14208672	14208672	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:14208672C>A	ENST00000308677.4	-	6	646	c.450G>T	c.(448-450)caG>caT	p.Q150H	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.Q142H	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCAGGACGATCTGGGCCGCGT	0.572																																																	0													81.0	81.0	81.0					19																	14208672		2203	4300	6503	SO:0001583	missense	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.450G>T	19.37:g.14208672C>A	ENSP00000309591:p.Gln150His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q150H	ENST00000308677.4	37	c.450	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634329	0.67130	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.12672	2.66	4.76	3.73	0.42828	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	0.41823	D	0.000813	T	0.30039	0.0752	L	0.56124	1.755	0.40748	D	0.982899	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.997	T	0.02868	-1.1100	10	0.87932	D	0	.	10.7018	0.45931	0.0:0.9054:0.0:0.0946	.	92;133;150;142	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	H	150;142;150;92	ENSP00000309591:Q150H	ENSP00000309591:Q150H	Q	-	3	2	PRKACA	14069672	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.794000	0.62482	1.003000	0.39130	0.579000	0.79373	CAG	PRKACA	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14208672	-1	no_errors	ENST00000308677	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKAG1	5571	genome.wustl.edu	37	12	49399151	49399151	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49399151G>C	ENST00000548065.1	-	5	707				PRKAG1_ENST00000316299.5_Missense_Mutation_p.L92V|PRKAG1_ENST00000547306.1_Intron|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Intron|PRKAG1_ENST00000395170.3_Intron|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit						cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	AGCATGCCTAGAGGACAAGAC	0.458																																																	0													112.0	107.0	108.0					12																	49399151		2203	4300	6503	SO:0001627	intron_variant	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.251-4C>G	12.37:g.49399151G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDT7|Q8N7V9	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.L92V	ENST00000548065.1	37	c.274	CCDS8777.1	12	.	.	.	.	.	.	.	.	.	.	G	0.551	-0.849215	0.02651	.	.	ENSG00000181929	ENST00000316299	D	0.89746	-2.56	6.17	0.924	0.19418	.	.	.	.	.	T	0.72112	0.3420	N	0.08118	0	0.27037	N	0.964117	B	0.06786	0.001	B	0.04013	0.001	T	0.57653	-0.7774	8	.	.	.	.	3.3999	0.07320	0.1403:0.2489:0.4824:0.1283	.	92	Q8N7V9	.	V	92	ENSP00000323867:L92V	.	L	-	1	2	PRKAG1	47685418	0.000000	0.05858	0.674000	0.29902	0.920000	0.55202	0.002000	0.13061	0.160000	0.19432	-0.150000	0.13652	CTA	PRKAG1	-	smart_Cysta_beta_synth_core		0.458	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG1	HGNC	protein_coding	OTTHUMT00000408946.1	G	NM_002733		49399151	-1	no_errors	ENST00000316299	ensembl	human	novel	70_37	missense	SNP	0.266	C
PRKCB	5579	genome.wustl.edu	37	16	24166169	24166169	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:24166169C>G	ENST00000321728.7	+	10	1405	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L	PRKCB_ENST00000303531.7_Missense_Mutation_p.F410L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACTCCTGCTTCCAGACCATGG	0.572																																																	0													86.0	65.0	72.0					16																	24166169		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1230C>G	16.37:g.24166169C>G	ENSP00000318315:p.Phe410Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.F410L	ENST00000321728.7	37	c.1230	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212119	0.79240	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.26660	1.72;1.72	5.87	3.95	0.45737	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	0.49167	0.1541	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.52094	-0.8621	10	0.87932	D	0	.	12.0715	0.53620	0.0:0.8618:0.0:0.1382	.	410;410	P05771-2;P05771	.;KPCB_HUMAN	L	410	ENSP00000318315:F410L;ENSP00000305355:F410L	ENSP00000305355:F410L	F	+	3	2	PRKCB	24073670	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.685000	0.37659	0.959000	0.37980	-0.136000	0.14681	TTC	PRKCB	-	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_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.572	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	C	NM_212535		24166169	+1	no_errors	ENST00000303531	ensembl	human	known	70_37	missense	SNP	1.000	G
PRKCI	5584	genome.wustl.edu	37	3	169985710	169985710	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:169985710C>G	ENST00000295797.4	+	5	677	c.372C>G	c.(370-372)atC>atG	p.I124M		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	124	Regulatory domain.				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)	CAGAATCCATCTACCGTAGAG	0.358																																																	0													54.0	50.0	52.0					3																	169985710		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.372C>G	3.37:g.169985710C>G	ENSP00000295797:p.Ile124Met	Somatic		WXS	Illumina HiSeq	Phase_IV	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.I124M	ENST00000295797.4	37	c.372	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376834	0.42105	.	.	ENSG00000163558	ENST00000295797	D	0.84298	-1.83	4.84	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	L	0.56769	1.78	0.58432	D	0.999996	B	0.32203	0.36	B	0.28465	0.09	T	0.64761	-0.6331	9	.	.	.	.	3.4391	0.07457	0.2681:0.3728:0.0:0.3591	.	124	P41743	KPCI_HUMAN	M	124	ENSP00000295797:I124M	.	I	+	3	3	PRKCI	171468404	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	1.076000	0.30729	0.150000	0.19136	0.467000	0.42956	ATC	PRKCI	-	pirsf_PKC_zeta		0.358	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	C	NM_002740		169985710	+1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	0.999	G
PRKDC	5591	genome.wustl.edu	37	8	48686800	48686800	+	Silent	SNP	C	C	G	rs192400758		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:48686800C>G	ENST00000314191.2	-	87	12374	c.12318G>C	c.(12316-12318)ctG>ctC	p.L4106L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L4075L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4107	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTGGTCCATCAGGCACTTCA	0.522								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													100.0	94.0	96.0					8																	48686800		1941	4147	6088	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.12318G>C	8.37:g.48686800C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L4106	ENST00000314191.2	37	c.12318		8																																																																																			PRKDC	-	pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom		0.522	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48686800	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.933	G
PRKDC	5591	genome.wustl.edu	37	8	48736444	48736444	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:48736444G>C	ENST00000314191.2	-	65	8950	c.8894C>G	c.(8893-8895)tCt>tGt	p.S2965C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S2965C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2966	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCAGCTTCAGAATAATCACT	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													131.0	127.0	128.0					8																	48736444		1852	4097	5949	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8894C>G	8.37:g.48736444G>C	ENSP00000313420:p.Ser2965Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2965C	ENST00000314191.2	37	c.8894		8	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649667	0.47362	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02525	4.33;4.26	5.29	3.48	0.39840	PIK-related kinase (1);	0.212969	0.39475	N	0.001360	T	0.03220	0.0094	L	0.41027	1.25	0.31671	N	0.644398	B;B	0.14012	0.009;0.009	B;B	0.09377	0.004;0.004	T	0.08764	-1.0706	10	0.35671	T	0.21	.	10.8691	0.46872	0.0707:0.1312:0.798:0.0	.	2965;2966	E7EUY0;P78527	.;PRKDC_HUMAN	C	2965	ENSP00000313420:S2965C;ENSP00000345182:S2965C	ENSP00000313420:S2965C	S	-	2	0	PRKDC	48898997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.564000	0.60830	0.721000	0.32231	0.650000	0.86243	TCT	PRKDC	-	pfscan_PIK_FAT		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48736444	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C
PROKR1	10887	genome.wustl.edu	37	2	68882657	68882657	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:68882657G>A	ENST00000303786.3	+	3	1551	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	PROKR1_ENST00000394342.2_Silent_p.K377K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	377					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGACCTCAAGACAATTGGGA	0.493																																																	0													66.0	62.0	64.0					2																	68882657		2203	4300	6503	SO:0001819	synonymous_variant	10887			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1131G>A	2.37:g.68882657G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.K377	ENST00000303786.3	37	c.1131	CCDS1889.1	2																																																																																			PROKR1	-	NULL		0.493	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	HGNC	protein_coding	OTTHUMT00000251760.2	G			68882657	+1	no_errors	ENST00000303786	ensembl	human	known	70_37	silent	SNP	1.000	A
PRPF4	9128	genome.wustl.edu	37	9	116041407	116041407	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116041407G>C	ENST00000374198.4	+	3	493	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	PRPF4_ENST00000374199.4_Missense_Mutation_p.E130Q|PRPF4_ENST00000488937.1_3'UTR	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	131					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGAAAGAAGAGAAAGGTTGCC	0.378																																																	0													55.0	53.0	54.0					9																	116041407		2203	4300	6503	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.391G>C	9.37:g.116041407G>C	ENSP00000363313:p.Glu131Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E131Q	ENST00000374198.4	37	c.391	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045212	0.75846	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.64260	-0.09;-0.04	4.91	4.91	0.64330	Pre-mRNA processing factor 4 (PRP4)-like (1);Splicing factor motif (1);	0.225948	0.46145	D	0.000312	T	0.69351	0.3101	L	0.41027	1.25	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.62491	0.903;0.903	T	0.70536	-0.4845	10	0.52906	T	0.07	.	15.4103	0.74914	0.0:0.0:1.0:0.0	.	146;131	Q59EL4;O43172	.;PRP4_HUMAN	Q	130;131	ENSP00000363315:E130Q;ENSP00000363313:E131Q	ENSP00000363313:E131Q	E	+	1	0	PRPF4	115081228	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.816000	0.91979	2.545000	0.85829	0.462000	0.41574	GAA	PRPF4	-	pfam_PRP4,smart_SFM		0.378	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	G	NM_004697		116041407	+1	no_errors	ENST00000374198	ensembl	human	known	70_37	missense	SNP	1.000	C
PRPF4	9128	genome.wustl.edu	37	9	116048568	116048568	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116048568G>A	ENST00000374198.4	+	8	911	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	PRPF4_ENST00000374199.4_Missense_Mutation_p.R269Q	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	270					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CACACTCTTCGAGGTAAGTTA	0.468																																																	0													207.0	192.0	197.0					9																	116048568		2203	4300	6503	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.809G>A	9.37:g.116048568G>A	ENSP00000363313:p.Arg270Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R270Q	ENST00000374198.4	37	c.809	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.005616	0.97195	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.60672	0.17;0.17	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114963	0.56097	D	0.000040	T	0.56949	0.2020	L	0.41356	1.27	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.44860	0.462;0.462	T	0.58211	-0.7676	10	0.56958	D	0.05	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	285;270	Q59EL4;O43172	.;PRP4_HUMAN	Q	269;270	ENSP00000363315:R269Q;ENSP00000363313:R270Q	ENSP00000363313:R270Q	R	+	2	0	PRPF4	115088389	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.110000	0.94302	2.941000	0.99782	0.655000	0.94253	CGA	PRPF4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	G	NM_004697		116048568	+1	no_errors	ENST00000374198	ensembl	human	known	70_37	missense	SNP	1.000	A
PRPF4B	8899	genome.wustl.edu	37	6	4058961	4058961	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:4058961G>A	ENST00000337659.6	+	14	2833		c.e14-1		PRPF4B_ENST00000538861.1_Splice_Site|PRPF4B_ENST00000494674.1_Splice_Site	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B						mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTGTTTTGTAGATGATTCGAA	0.284																																																	0													46.0	45.0	45.0					6																	4058961		2203	4298	6501	SO:0001630	splice_region_variant	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2734-1G>A	6.37:g.4058961G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Splice_Site	SNP	-	e14-1	ENST00000337659.6	37	c.2734-1	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422195	0.83559	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF4B	4003960	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.230000	0.95299	2.797000	0.96272	0.655000	0.94253	.	PRPF4B	-	-		0.284	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	G		Intron	4058961	+1	no_errors	ENST00000337659	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PRR12	57479	genome.wustl.edu	37	19	50104804	50104804	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50104804C>G	ENST00000418929.2	+	6	4414	c.4402C>G	c.(4402-4404)Cag>Gag	p.Q1468E		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		cccgactcctcagcctcagcc	0.706																																																	0													3.0	5.0	4.0					19																	50104804		1516	3404	4920	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4402C>G	19.37:g.50104804C>G	ENSP00000394510:p.Gln1468Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.Q1468E	ENST00000418929.2	37	c.4402	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653723	0.29425	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	2.84	2.84	0.33178	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.33187	D	0.550344	B	0.27823	0.19	B	0.27796	0.083	T	0.28170	-1.0052	7	0.02654	T	1	-13.3823	9.2536	0.37571	0.0:1.0:0.0:0.0	.	1468	Q9ULL5-3	.	E	1468;648;648	.	ENSP00000246798:Q648E	Q	+	1	0	PRR12	54796616	0.246000	0.23909	0.690000	0.30148	0.885000	0.51271	0.812000	0.27211	1.583000	0.49898	0.313000	0.20887	CAG	PRR12	-	NULL		0.706	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50104804	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	1.000	G
PRR12	57479	genome.wustl.edu	37	19	50119194	50119194	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50119194G>C	ENST00000418929.2	+	9	5227	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	918							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCGGCCTGTTgagaaggaaaa	0.652																																																	0													18.0	24.0	22.0					19																	50119194		1991	4095	6086	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5215G>C	19.37:g.50119194G>C	ENSP00000394510:p.Glu1739Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.E1739Q	ENST00000418929.2	37	c.5215	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497789	0.26861	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.49	4.49	0.54785	.	0.750488	0.11477	N	0.560126	T	0.54111	0.1838	L	0.48642	1.525	0.43271	D	0.995226	P	0.39250	0.665	B	0.42343	0.384	T	0.49113	-0.8973	9	0.36615	T	0.2	-21.6145	10.7212	0.46042	0.0936:0.0:0.9064:0.0	.	1739	Q9ULL5-3	.	Q	1739;919;919	.	ENSP00000246798:E919Q	E	+	1	0	PRR12	54811006	0.999000	0.42202	0.924000	0.36721	0.027000	0.11550	3.141000	0.50593	2.511000	0.84671	0.561000	0.74099	GAG	PRR12	-	NULL		0.652	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	G	NM_020719		50119194	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	0.993	C
PRR3	80742	genome.wustl.edu	37	6	30531427	30531428	+	3'UTR	INS	-	-	T	rs563052704|rs57902791	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30531427_30531428insT	ENST00000376560.3	+	0	2181_2182				PRR3_ENST00000376557.3_3'UTR|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						TGAGAATGAGGttttttttttt	0.381																																																	0																																										SO:0001624	3_prime_UTR_variant	80742			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.*1156->T	6.37:g.30531438_30531438dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4H4|Q5RJB5|Q5STN6	RNA	INS	-	NULL	ENST00000376560.3	37	NULL	CCDS43440.1	6																																																																																			PRR3	-	-		0.381	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	-	NM_025263		30531428	+1	no_errors	ENST00000481741	ensembl	human	known	70_37	rna	INS	0.021:0.005	T
PRRC2B	84726	genome.wustl.edu	37	9	134348985	134348985	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134348985G>C	ENST00000357304.4	+	14	2253	c.2198G>C	c.(2197-2199)aGa>aCa	p.R733T	PRRC2B_ENST00000405995.1_Missense_Mutation_p.R733T|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R733T|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	733							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCCAAGAAAGAAAAGTGACC	0.597																																																	0													35.0	38.0	37.0					9																	134348985		1947	4124	6071	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2198G>C	9.37:g.134348985G>C	ENSP00000349856:p.Arg733Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.R733T	ENST00000357304.4	37	c.2198	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956883	0.92726	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000418650;ENST00000456307	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.84	5.84	0.93424	.	0.000000	0.44688	U	0.000435	T	0.44912	0.1316	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.85130	0.997;0.977	T	0.12243	-1.0555	10	0.41790	T	0.15	-11.2662	19.1433	0.93455	0.0:0.0:1.0:0.0	.	29;733	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	T	733;733;733;29;2	ENSP00000384606:R733T;ENSP00000349856:R733T;ENSP00000398853:R733T;ENSP00000400608:R2T	ENSP00000349856:R733T	R	+	2	0	PRRC2B	133338806	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.128000	0.77217	2.760000	0.94817	0.655000	0.94253	AGA	PRRC2B	-	NULL		0.597	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134348985	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRC2B	84726	genome.wustl.edu	37	9	134349046	134349046	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134349046G>C	ENST00000357304.4	+	14	2314	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q753H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q753H|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	753							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGCACTGCAGAGCAAGGGCT	0.597																																																	0													36.0	39.0	38.0					9																	134349046		2050	4184	6234	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2259G>C	9.37:g.134349046G>C	ENSP00000349856:p.Gln753His	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.Q753H	ENST00000357304.4	37	c.2259	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363022	0.41902	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000418650;ENST00000456307	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.84	3.69	0.42338	.	0.186893	0.25363	U	0.031211	T	0.11410	0.0278	L	0.59436	1.845	0.80722	D	1	B;B	0.23806	0.091;0.016	B;B	0.17433	0.018;0.005	T	0.04885	-1.0920	10	0.51188	T	0.08	-15.3732	8.2534	0.31739	0.159:0.1341:0.7068:0.0	.	49;753	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	H	753;753;753;49;22	ENSP00000384606:Q753H;ENSP00000349856:Q753H;ENSP00000398853:Q753H;ENSP00000400608:Q22H	ENSP00000349856:Q753H	Q	+	3	2	PRRC2B	133338867	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.193000	0.32162	1.475000	0.48197	0.655000	0.94253	CAG	PRRC2B	-	NULL		0.597	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134349046	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRC2B	84726	genome.wustl.edu	37	9	134349845	134349845	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134349845G>C	ENST00000357304.4	+	15	2384	c.2329G>C	c.(2329-2331)Gaa>Caa	p.E777Q	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	777							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTCAGGAATGAAAGCTCTTT	0.463																																																	0													70.0	72.0	72.0					9																	134349845		1900	4124	6024	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2329G>C	9.37:g.134349845G>C	ENSP00000349856:p.Glu777Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E777Q	ENST00000357304.4	37	c.2329	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785049	0.90282	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.12255	2.7;2.7	5.46	5.46	0.80206	.	.	.	.	.	T	0.32376	0.0827	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68039	0.955;0.767	T	0.00534	-1.1684	9	0.32370	T	0.25	.	18.3038	0.90174	0.0:0.0:1.0:0.0	.	73;777	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	Q	777;73;46	ENSP00000349856:E777Q;ENSP00000400608:E46Q	ENSP00000349856:E777Q	E	+	1	0	PRRC2B	133339666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.537000	0.73847	2.567000	0.86603	0.655000	0.94253	GAA	PRRC2B	-	NULL		0.463	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134349845	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRC2B	84726	genome.wustl.edu	37	9	134350562	134350562	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134350562G>A	ENST00000357304.4	+	15	3101	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1016							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTTGGCCGCGAGGCCACCAA	0.562																																																	0													28.0	32.0	30.0					9																	134350562		1925	4116	6041	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3046G>A	9.37:g.134350562G>A	ENSP00000349856:p.Glu1016Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E1016K	ENST00000357304.4	37	c.3046	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304569	0.23736	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.01584	4.75	5.61	4.7	0.59300	.	.	.	.	.	T	0.02012	0.0063	L	0.47716	1.5	0.80722	D	1	P;B	0.42357	0.777;0.291	B;B	0.30179	0.112;0.016	T	0.65100	-0.6250	8	.	.	.	.	14.9429	0.71009	0.0:0.0:0.856:0.144	.	312;1016	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	K	1016;312	ENSP00000349856:E1016K	.	E	+	1	0	PRRC2B	133340383	1.000000	0.71417	0.403000	0.26384	0.046000	0.14306	4.705000	0.61838	1.330000	0.45394	0.655000	0.94253	GAG	PRRC2B	-	NULL		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134350562	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	0.769	A
PRRG1	5638	genome.wustl.edu	37	X	37312502	37312502	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:37312502C>G	ENST00000542554.1	+	5	557	c.285C>G	c.(283-285)ctC>ctG	p.L95L	PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Silent_p.L95L|PRRG1_ENST00000378628.4_Silent_p.L95L|PRRG1_ENST00000543642.1_Silent_p.L95L	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	95						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TCATTATCCTCCTTGTCATTT	0.433																																																	0													159.0	118.0	132.0					X																	37312502		2202	4300	6502	SO:0001819	synonymous_variant	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.285C>G	X.37:g.37312502C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.L95	ENST00000542554.1	37	c.285	CCDS14239.1	X																																																																																			PRRG1	-	NULL		0.433	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	C	NM_000950		37312502	+1	no_errors	ENST00000378628	ensembl	human	known	70_37	silent	SNP	0.996	G
PRRT1	80863	genome.wustl.edu	37	6	32117007	32117007	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32117007C>T	ENST00000211413.5	-	4	1037	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PRRT1_ENST00000375152.2_Missense_Mutation_p.D224N|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Missense_Mutation_p.D224N	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	305					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TTTTAGGGATCCCAGTAGTTC	0.632																																																	0													32.0	42.0	38.0					6																	32117007		1508	2707	4215	SO:0001583	missense	80863			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.913G>A	6.37:g.32117007C>T	ENSP00000211413:p.Asp305Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.D305N	ENST00000211413.5	37	c.913	CCDS4739.1	6	.	.	.	.	.	.	.	.	.	.	c	23.1	4.374739	0.82573	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.91945	-2.81;-2.94;-2.94	4.46	4.46	0.54185	.	.	.	.	.	D	0.82999	0.5159	N	0.08118	0	0.44677	D	0.99766	P;P	0.50528	0.895;0.936	B;P	0.50934	0.354;0.654	D	0.84522	0.0628	9	0.32370	T	0.25	-1.3215	14.6746	0.68969	0.0:1.0:0.0:0.0	.	305;224	Q99946;Q99946-2	PRRT1_HUMAN;.	N	305;224;224	ENSP00000211413:D305N;ENSP00000364292:D224N;ENSP00000364294:D224N	ENSP00000211413:D305N	D	-	1	0	PRRT1	32224985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.537000	0.73847	2.332000	0.79248	0.645000	0.84053	GAT	PRRT1	-	NULL		0.632	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	C	NM_030651		32117007	-1	no_errors	ENST00000211413	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRX1	5396	genome.wustl.edu	37	1	170695370	170695370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:170695370C>T	ENST00000239461.6	+	3	740	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Nonsense_Mutation_p.Q143*|PRRX1_ENST00000367760.3_Nonsense_Mutation_p.Q143*	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	143					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTGTGGTTTCAGAACCGAAG	0.453																																																	0													52.0	50.0	51.0					1																	170695370		2203	4300	6503	SO:0001587	stop_gained	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.427C>T	1.37:g.170695370C>T	ENSP00000239461:p.Gln143*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BUM7|O60807	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.Q143*	ENST00000239461.6	37	c.427	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.104648	0.98066	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230	.	.	.	5.63	4.72	0.59763	.	0.177137	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.3988	0.60870	0.0:0.9237:0.0:0.0763	.	.	.	.	X	143	.	ENSP00000239461:Q143X	Q	+	1	0	PRRX1	168961994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.451000	0.60047	1.375000	0.46248	0.650000	0.86243	CAG	PRRX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.453	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	C	NM_006902		170695370	+1	no_errors	ENST00000239461	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PRSS36	146547	genome.wustl.edu	37	16	31150460	31150460	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:31150460C>T	ENST00000268281.4	-	15	2625	c.2567G>A	c.(2566-2568)tGa>tAa	p.*856*	PRSS36_ENST00000569305.1_Silent_p.*851*|PRSS36_ENST00000418068.2_Silent_p.*753*	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	0						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCTAGCCCCTCAGCTCTGGAT	0.647																																																	0													51.0	52.0	51.0					16																	31150460		2197	4300	6497	SO:0001819	synonymous_variant	146547			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2567G>A	16.37:g.31150460C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_polyserase-2,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.*856	ENST00000268281.4	37	c.2567	CCDS32436.1	16																																																																																			PRSS36	-	NULL		0.647	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	C	NM_173502		31150460	-1	no_errors	ENST00000268281	ensembl	human	known	70_37	silent	SNP	0.988	T
PSAP	5660	genome.wustl.edu	37	10	73580086	73580086	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:73580086C>T	ENST00000394936.3	-	9	1063	c.916G>A	c.(916-918)Gag>Aag	p.E306K	PSAP_ENST00000394934.1_Missense_Mutation_p.E308K			P07602	SAP_HUMAN	prosaposin	306					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCTGGGACCTCGTGCTTCTGT	0.502																																																	0													211.0	183.0	192.0					10																	73580086		2203	4300	6503	SO:0001583	missense	5660			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.916G>A	10.37:g.73580086C>T	ENSP00000378394:p.Glu306Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB	p.E306K	ENST00000394936.3	37	c.916	CCDS7311.1	10	.	.	.	.	.	.	.	.	.	.	C	5.215	0.225096	0.09916	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.90004	-2.6;-2.6	5.45	-9.47	0.00594	.	1.900830	0.01988	N	0.045334	T	0.73210	0.3558	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.65973	-0.6038	10	0.06494	T	0.89	-12.6495	4.0866	0.09950	0.0926:0.3223:0.1252:0.4599	.	306	P07602	SAP_HUMAN	K	306;306;309;308;312;232	ENSP00000378394:E306K;ENSP00000378392:E308K	ENSP00000350063:E309K	E	-	1	0	PSAP	73250092	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.779000	0.01777	-0.905000	0.03871	-1.224000	0.01588	GAG	PSAP	-	pirsf_Saposin_chordata		0.502	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSAP	HGNC	protein_coding	OTTHUMT00000048553.1	C	NM_002778		73580086	-1	no_errors	ENST00000373120	ensembl	human	known	70_37	missense	SNP	0.000	T
PSG8	440533	genome.wustl.edu	37	19	43268273	43268273	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:43268273G>A	ENST00000306511.4	-	2	322	c.225C>T	c.(223-225)ctC>ctT	p.L75L	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Silent_p.L75L|PSG8_ENST00000404209.4_Silent_p.L75L	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	75	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTAATGGTAGAGGTCCCTGA	0.418																																																	0													190.0	207.0	201.0					19																	43268273		2203	4296	6499	SO:0001819	synonymous_variant	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.225C>T	19.37:g.43268273G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L75	ENST00000306511.4	37	c.225	CCDS33037.1	19																																																																																			PSG8	-	pfam_Ig_V-set,smart_Ig_sub		0.418	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	G			43268273	-1	no_errors	ENST00000306511	ensembl	human	known	70_37	silent	SNP	0.000	A
PSMB1	5689	genome.wustl.edu	37	6	170844466	170844466	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:170844466C>G	ENST00000262193.6	-	6	666	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GGAACATGCTCCACATTCTGC	0.493																																																	0													88.0	68.0	75.0					6																	170844466		2203	4300	6503	SO:0001583	missense	5689			D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.568G>C	6.37:g.170844466C>G	ENSP00000262193:p.Glu190Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU76|Q9BWA8	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.E190Q	ENST00000262193.6	37	c.568	CCDS34577.1	6	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574279	0.28092	.	.	ENSG00000008018	ENST00000262193	T	0.45668	0.89	5.48	5.48	0.80851	.	0.103513	0.64402	D	0.000004	T	0.16557	0.0398	N	0.25992	0.78	0.58432	D	0.999998	B	0.16166	0.016	B	0.09377	0.004	T	0.05289	-1.0894	10	0.17832	T	0.49	-35.4508	15.7201	0.77700	0.0:0.8634:0.1366:0.0	.	190	P20618	PSB1_HUMAN	Q	190	ENSP00000262193:E190Q	ENSP00000262193:E190Q	E	-	1	0	PSMB1	170686391	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	2.050000	0.41297	2.579000	0.87056	0.555000	0.69702	GAG	PSMB1	-	pfam_Proteasome_sua/b		0.493	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB1	HGNC	protein_coding	OTTHUMT00000043278.2	C	NM_002793		170844466	-1	no_errors	ENST00000262193	ensembl	human	known	70_37	missense	SNP	1.000	G
PSMB10	5699	genome.wustl.edu	37	16	67970608	67970608	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67970608C>G	ENST00000358514.4	-	1	382	c.45G>C	c.(43-45)gaG>gaC	p.E15D	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	TTTGGCAGTTCTCGAAGGAGA	0.677																																																	0													5.0	8.0	7.0					16																	67970608		2095	4114	6209	SO:0001583	missense	5699			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.45G>C	16.37:g.67970608C>G	ENSP00000351314:p.Glu15Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5J4|Q5U098	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB	p.E15D	ENST00000358514.4	37	c.45	CCDS10853.1	16	.	.	.	.	.	.	.	.	.	.	c	8.485	0.860682	0.17178	.	.	ENSG00000205220	ENST00000358514	T	0.33216	1.42	5.4	-3.89	0.04193	.	0.212304	0.47455	N	0.000227	T	0.09335	0.0230	N	0.17248	0.465	0.45464	D	0.998431	B	0.09022	0.002	B	0.08055	0.003	T	0.38373	-0.9664	10	0.02654	T	1	-15.7112	1.1005	0.01683	0.1341:0.2455:0.2633:0.3571	.	15	P40306	PSB10_HUMAN	D	15	ENSP00000351314:E15D	ENSP00000351314:E15D	E	-	3	2	PSMB10	66528109	0.592000	0.26832	0.992000	0.48379	0.878000	0.50629	-0.479000	0.06567	-0.217000	0.10033	0.537000	0.68136	GAG	PSMB10	-	NULL		0.677	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB10	HGNC	protein_coding	OTTHUMT00000268887.1	C	NM_002801		67970608	-1	no_errors	ENST00000358514	ensembl	human	known	70_37	missense	SNP	0.955	G
PSMC1	5700	genome.wustl.edu	37	14	90734620	90734620	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:90734620G>C	ENST00000261303.8	+	8	847	c.744G>C	c.(742-744)ttG>ttC	p.L248F	PSMC1_ENST00000543772.2_Missense_Mutation_p.L175F	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CCACTTTCTTGAGAGTGGTTG	0.428																																																	0													26.0	27.0	26.0					14																	90734620		2203	4296	6499	SO:0001583	missense	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.744G>C	14.37:g.90734620G>C	ENSP00000261303:p.Leu248Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.L248F	ENST00000261303.8	37	c.744	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839174	0.71373	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.93426	-3.22;-3.22	5.04	2.03	0.26663	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91991	0.7463	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90280	0.4314	10	0.87932	D	0	-10.9665	7.6086	0.28115	0.1447:0.2388:0.6165:0.0	.	248	P62191	PRS4_HUMAN	F	248;175	ENSP00000261303:L248F;ENSP00000445147:L175F	ENSP00000261303:L248F	L	+	3	2	PSMC1	89804373	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.042000	0.57347	0.644000	0.30656	0.563000	0.77884	TTG	PSMC1	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.428	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1	G	NM_002802		90734620	+1	no_errors	ENST00000261303	ensembl	human	known	70_37	missense	SNP	1.000	C
PTGFRN	5738	genome.wustl.edu	37	1	117527316	117527316	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:117527316G>A	ENST00000393203.2	+	8	2329	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	728	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CATGGCCTTTGATGTGTCCTG	0.547																																																	0													257.0	198.0	218.0					1																	117527316		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2182G>A	1.37:g.117527316G>A	ENSP00000376899:p.Asp728Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D728N	ENST00000393203.2	37	c.2182	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803298	0.90623	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03772	3.81	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054286	0.64402	D	0.000001	T	0.09158	0.0226	L	0.50333	1.59	0.48696	D	0.999696	D	0.89917	1.0	D	0.68621	0.959	T	0.40040	-0.9584	10	0.22109	T	0.4	-27.5795	17.0798	0.86595	0.0:0.0:1.0:0.0	.	728	Q9P2B2	FPRP_HUMAN	N	728;587	ENSP00000376899:D728N	ENSP00000376899:D728N	D	+	1	0	PTGFRN	117328839	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.394000	0.73223	2.642000	0.89623	0.561000	0.74099	GAT	PTGFRN	-	smart_Ig_sub,pfscan_Ig-like		0.547	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	G	NM_020440		117527316	+1	no_errors	ENST00000393203	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPDC1	138639	genome.wustl.edu	37	9	96860086	96860086	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:96860086G>C	ENST00000375360.3	+	7	1416	c.1076G>C	c.(1075-1077)cGa>cCa	p.R359P	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R411P	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	359					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTTGACAATCGAGGCATGATT	0.502																																																	0													60.0	62.0	61.0					9																	96860086		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1076G>C	9.37:g.96860086G>C	ENSP00000364509:p.Arg359Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.R359P	ENST00000375360.3	37	c.1076	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	8.049	0.765561	0.15914	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.11821	2.74;2.74	5.93	1.98	0.26296	.	0.453502	0.26023	N	0.026813	T	0.06005	0.0156	N	0.08118	0	0.26756	N	0.970093	B;B;B;B	0.21309	0.054;0.053;0.054;0.054	B;B;B;B	0.16722	0.007;0.016;0.007;0.007	T	0.34279	-0.9835	10	0.31617	T	0.26	-3.5196	6.8844	0.24191	0.6444:0.2741:0.0816:0.0	.	413;411;413;359	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	P	359;411	ENSP00000364509:R359P;ENSP00000288976:R411P	ENSP00000288976:R411P	R	+	2	0	PTPDC1	95899907	0.999000	0.42202	0.245000	0.24217	0.262000	0.26303	1.903000	0.39858	0.077000	0.16863	-0.345000	0.07892	CGA	PTPDC1	-	NULL		0.502	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	G	NM_177995, NM_152422		96860086	+1	no_errors	ENST00000375360	ensembl	human	known	70_37	missense	SNP	0.967	C
PTGR1	22949	genome.wustl.edu	37	9	114325402	114325402	+	Nonstop_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:114325402C>G	ENST00000407693.2	-	10	1251	c.989G>C	c.(988-990)tGa>tCa	p.*330S	PTGR1_ENST00000538962.1_Intron|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Nonstop_Mutation_p.*330S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	0					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCCTCTTTTTCATGCTTTCAC	0.338																																					Ovarian(200;132 2151 7551 19220 46064)												0													156.0	135.0	142.0					9																	114325402		2202	4299	6501	SO:0001578	stop_lost	22949			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.989G>C	9.37:g.114325402C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Nonstop_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	p.*330S	ENST00000407693.2	37	c.989	CCDS6779.1	9	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787905	0.31593	.	.	ENSG00000106853	ENST00000309195;ENST00000407693	.	.	.	5.01	0.875	0.19130	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.999875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.34	0.32239	0.0:0.4633:0.0:0.5367	.	.	.	.	S	330	.	.	X	-	2	2	PTGR1	113365223	0.906000	0.30813	0.128000	0.21923	0.550000	0.35303	0.252000	0.18278	0.208000	0.20626	-0.259000	0.10710	TGA	PTGR1	-	NULL		0.338	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR1	HGNC	protein_coding	OTTHUMT00000053647.2	C			114325402	-1	no_errors	ENST00000309195	ensembl	human	known	70_37	nonstop	SNP	0.161	G
PTPN12	5782	genome.wustl.edu	37	7	77256663	77256663	+	Nonsense_Mutation	SNP	C	C	G	rs374583053		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:77256663C>G	ENST00000248594.6	+	13	1939	c.1667C>G	c.(1666-1668)tCa>tGa	p.S556*	PTPN12_ENST00000435495.2_Nonsense_Mutation_p.S426*|PTPN12_ENST00000415482.2_Nonsense_Mutation_p.S437*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	556					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGCAATTCCTCAGATATCAAC	0.413																																																	0													116.0	109.0	111.0					7																	77256663		2203	4300	6503	SO:0001587	stop_gained	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1667C>G	7.37:g.77256663C>G	ENSP00000248594:p.Ser556*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S556*	ENST00000248594.6	37	c.1667	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.103560	0.98657	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	.	.	.	6.04	6.04	0.98038	.	0.194834	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	556;437;437;426;64	.	ENSP00000248594:S556X	S	+	2	0	PTPN12	77094599	1.000000	0.71417	0.980000	0.43619	0.624000	0.37722	5.923000	0.70045	2.873000	0.98535	0.563000	0.77884	TCA	PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12		0.413	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	C			77256663	+1	no_errors	ENST00000248594	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PTPN23	25930	genome.wustl.edu	37	3	47447426	47447426	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47447426C>T	ENST00000265562.4	+	6	513	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	PTPN23_ENST00000431726.1_Missense_Mutation_p.H20Y	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	146	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTGTACCCATTTCCAGTG	0.607																																																	0													66.0	59.0	61.0					3																	47447426		2203	4300	6503	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.436C>T	3.37:g.47447426C>T	ENSP00000265562:p.His146Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.H146Y	ENST00000265562.4	37	c.436	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963220	0.92791	.	.	ENSG00000076201	ENST00000265562	T	0.15487	2.42	5.14	4.27	0.50696	BRO1 domain (3);	0.101746	0.64402	D	0.000003	T	0.32793	0.0841	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04796	-1.0926	10	0.72032	D	0.01	-33.8075	12.6314	0.56659	0.0:0.9189:0.0:0.0811	.	146	Q9H3S7	PTN23_HUMAN	Y	146	ENSP00000265562:H146Y	ENSP00000265562:H146Y	H	+	1	0	PTPN23	47422430	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.603000	0.82811	1.401000	0.46761	0.655000	0.94253	CAT	PTPN23	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.607	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	C	NM_015466		47447426	+1	no_errors	ENST00000265562	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRF	5792	genome.wustl.edu	37	1	44071938	44071938	+	Missense_Mutation	SNP	G	G	C	rs540407495		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:44071938G>C	ENST00000359947.4	+	20	3851	c.3511G>C	c.(3511-3513)Gag>Cag	p.E1171Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1162Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1171Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.E519Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1162Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1171					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAAGGCGGAGAGGAGCAGCG	0.637																																																	0													40.0	49.0	46.0					1																	44071938		2200	4289	6489	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3511G>C	1.37:g.44071938G>C	ENSP00000353030:p.Glu1171Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E1171Q	ENST00000359947.4	37	c.3511	CCDS489.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	3.592|3.592|3.592	-0.083477|-0.083477|-0.083477	0.07141|0.07141|0.07141	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	.|T;T;T;T;T;T|.	.|0.55760|.	.|0.5;0.52;0.5;0.52;2.44;4.13|.	5.2|5.2|5.2	3.03|3.03|3.03	0.35002|0.35002|0.35002	.|.|.	1.482320|1.482320|.	0.04891|0.04891|.	N|N|.	0.449556|0.449556|.	T|T|T	0.18173|0.18173|0.18173	0.0436|0.0436|0.0436	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B|.	.|0.18310|.	.|0.003;0.004;0.006;0.027;0.0|.	.|B;B;B;B;B|.	.|0.17722|.	.|0.006;0.003;0.01;0.019;0.001|.	T|T|T	0.20306|0.20306|0.20306	-1.0279|-1.0279|-1.0279	6|10|5	.|0.20519|.	.|T|.	.|0.43|.	.|.|.	7.6262|7.6262|7.6262	0.28214|0.28214|0.28214	0.1109:0.3915:0.4977:0.0|0.1109:0.3915:0.4977:0.0|0.1109:0.3915:0.4977:0.0	.|.|.	.|816;519;737;1162;1171|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	D|Q|T	816|1171;1162;1171;1162;519;232|543;584	.|ENSP00000353030:E1171Q;ENSP00000398822:E1162Q;ENSP00000361491:E1171Q;ENSP00000361490:E1162Q;ENSP00000387885:E519Q;ENSP00000361484:E232Q|.	.|ENSP00000353030:E1171Q|.	E|E|R	+|+|+	3|1|2	2|0|0	PTPRF|PTPRF|PTPRF	43844525|43844525|43844525	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.015000|0.015000|0.015000	0.08874|0.08874|0.08874	0.303000|0.303000|0.303000	0.19210|0.19210|0.19210	1.245000|1.245000|1.245000	0.43885|0.43885|0.43885	-0.367000|-0.367000|-0.367000	0.07326|0.07326|0.07326	GAG|GAG|AGA	PTPRF	-	NULL		0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44071938	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	0.006	C
PTPRF	5792	genome.wustl.edu	37	1	44089323	44089323	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:44089323C>T	ENST00000359947.4	+	0	7713				PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_3'UTR|PTPRF_ENST00000372413.3_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTGAATAATCAGATTTCTTA	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.*1649C>T	1.37:g.44089323C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	RNA	SNP	-	NULL	ENST00000359947.4	37	NULL	CCDS489.2	1																																																																																			PTPRF	-	-		0.393	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	C			44089323	+1	no_errors	ENST00000496447	ensembl	human	known	70_37	rna	SNP	1.000	T
PTPRJ	5795	genome.wustl.edu	37	11	48157793	48157793	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:48157793C>G	ENST00000418331.2	+	9	2170	c.1818C>G	c.(1816-1818)atC>atG	p.I606M		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	606	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATCACCATCTCTCCAGAAG	0.507																																																	0													112.0	112.0	112.0					11																	48157793		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1818C>G	11.37:g.48157793C>G	ENSP00000400010:p.Ile606Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I606M	ENST00000418331.2	37	c.1818	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017133	0.54576	.	.	ENSG00000149177	ENST00000418331	T	0.61040	0.14	5.85	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71500	0.3347	M	0.68952	2.095	0.47441	D	0.999426	D	0.61697	0.99	D	0.70935	0.971	T	0.74109	-0.3771	9	0.72032	D	0.01	.	10.9309	0.47217	0.0:0.9139:0.0:0.0861	.	606	Q12913	PTPRJ_HUMAN	M	606	ENSP00000400010:I606M	ENSP00000400010:I606M	I	+	3	3	PTPRJ	48114369	0.366000	0.25014	0.028000	0.17463	0.027000	0.11550	1.594000	0.36697	1.478000	0.48253	0.650000	0.86243	ATC	PTPRJ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	C			48157793	+1	no_errors	ENST00000418331	ensembl	human	known	70_37	missense	SNP	0.144	G
PTPRK	5796	genome.wustl.edu	37	6	128411102	128411102	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:128411102C>G	ENST00000368215.3	-	8	1197	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	PTPRK_ENST00000532331.1_Missense_Mutation_p.E400Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.E400Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.E400Q|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.E400Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.E400Q|PTPRK_ENST00000368227.3_Missense_Mutation_p.E400Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	400	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCCTGTATTTCAGCAATCTTT	0.383																																																	0													107.0	102.0	104.0					6																	128411102		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1198G>C	6.37:g.128411102C>G	ENSP00000357198:p.Glu400Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E400Q	ENST00000368215.3	37	c.1198		6	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630199	0.67015	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.86	5.86	0.93980	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.105656	0.64402	D	0.000005	T	0.51295	0.1666	L	0.49126	1.545	0.51767	D	0.999939	P;P;P;D;B;P	0.60160	0.865;0.888;0.795;0.987;0.354;0.486	B;B;B;P;B;B	0.52066	0.174;0.365;0.389;0.689;0.03;0.067	T	0.35624	-0.9781	10	0.30078	T	0.28	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	400;400;400;257;400;400	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	Q	400;400;400;400;400;400;400;257	ENSP00000357209:E400Q;ENSP00000357210:E400Q;ENSP00000432973:E400Q;ENSP00000357196:E400Q;ENSP00000357193:E400Q;ENSP00000357198:E400Q;ENSP00000357190:E400Q	ENSP00000357190:E400Q	E	-	1	0	PTPRK	128452795	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.741000	0.68638	2.774000	0.95407	0.585000	0.79938	GAA	PTPRK	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128411102	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRM	5797	genome.wustl.edu	37	18	8394576	8394576	+	Silent	SNP	G	G	A	rs371862139		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:8394576G>A	ENST00000332175.8	+	30	5309	c.4272G>A	c.(4270-4272)ctG>ctA	p.L1424L	PTPRM_ENST00000400053.4_Silent_p.L1362L|PTPRM_ENST00000444013.1_Silent_p.L1211L|PTPRM_ENST00000400060.4_Silent_p.L1438L|PTPRM_ENST00000580170.1_Silent_p.L1437L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1424	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1424L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGACACTGAGGAACAACA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	94.0	72.0	79.0		4311,4272	4.0	1.0	18		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1437/1466,1424/1453	8394576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4272G>A	18.37:g.8394576G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1438	ENST00000332175.8	37	c.4314	CCDS11840.1	18																																																																																			PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8394576	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	1.000	A
PWP2	5822	genome.wustl.edu	37	21	45538667	45538667	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45538667C>T	ENST00000291576.7	+	9	1131	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	335					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGCATCGCCTCAGTGGCCATC	0.612																																																	0													127.0	101.0	109.0					21																	45538667		2203	4300	6503	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1004C>T	21.37:g.45538667C>T	ENSP00000291576:p.Ser335Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S335L	ENST00000291576.7	37	c.1004	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645368	0.47258	.	.	ENSG00000241945	ENST00000291576	T	0.51574	0.7	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (2);WD40-repeat-containing domain (1);	0.061349	0.64402	D	0.000002	T	0.52629	0.1746	M	0.82823	2.61	0.40532	D	0.980943	P	0.40431	0.717	B	0.35813	0.211	T	0.65166	-0.6234	10	0.62326	D	0.03	-22.7786	16.9482	0.86236	0.0:1.0:0.0:0.0	.	335	Q15269	PWP2_HUMAN	L	335	ENSP00000291576:S335L	ENSP00000291576:S335L	S	+	2	0	PWP2	44363095	1.000000	0.71417	0.047000	0.18901	0.814000	0.46013	6.708000	0.74660	2.501000	0.84356	0.555000	0.69702	TCA	PWP2	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.612	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	C	NM_005049		45538667	+1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	0.711	T
PXDN	7837	genome.wustl.edu	37	2	1687886	1687886	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:1687886C>G	ENST00000252804.4	-	5	504	c.454G>C	c.(454-456)Gat>Cat	p.D152H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	152					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGAACGAATCTGGGTCCAAA	0.408																																																	0													48.0	50.0	49.0					2																	1687886		1856	4101	5957	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.454G>C	2.37:g.1687886C>G	ENSP00000252804:p.Asp152His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.D152H	ENST00000252804.4	37	c.454	CCDS46221.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.55|13.55|13.55	2.269278|2.269278|2.269278	0.40095|0.40095|0.40095	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.53423|.|.	0.62;0.93|.|.	5.72|5.72|5.72	4.83|4.83|4.83	0.62350|0.62350|0.62350	.|.|.	0.385417|.|.	0.28296|.|.	N|.|.	0.015878|.|.	T|T|T	0.42314|0.42314|0.42314	0.1197|0.1197|0.1197	L|L|L	0.37800|0.37800|0.37800	1.135|1.135|1.135	0.24505|0.24505|0.24505	N|N|N	0.994236|0.994236|0.994236	B;B|.|.	0.06786|.|.	0.0;0.001|.|.	B;B|.|.	0.11329|.|.	0.004;0.006|.|.	T|T|T	0.27872|0.27872|0.27872	-1.0061|-1.0061|-1.0061	10|5|5	0.41790|.|.	T|.|.	0.15|.|.	-24.5407|-24.5407|-24.5407	14.1231|14.1231|14.1231	0.65203|0.65203|0.65203	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.|.	152;152|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	H|H|T	152;128|147|75	ENSP00000252804:D152H;ENSP00000398363:D128H|.|.	ENSP00000252804:D152H|.|.	D|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666893|1666893|1666893	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.192000|0.192000|0.192000	0.23308|0.23308|0.23308	0.131000|0.131000|0.131000	0.20780|0.20780|0.20780	3.940000|3.940000|3.940000	0.56599|0.56599|0.56599	2.688000|2.688000|2.688000	0.91661|0.91661|0.91661	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAT|CAG|AGA	PXDN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.408	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1687886	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	0.929	G
PYROXD2	84795	genome.wustl.edu	37	10	100152754	100152754	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:100152754G>C	ENST00000370575.4	-	9	920	c.872C>G	c.(871-873)tCt>tGt	p.S291C	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	291							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GATCGCATCAGAGAGGGCACC	0.592																																																	0													95.0	86.0	89.0					10																	100152754		2203	4300	6503	SO:0001583	missense	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.872C>G	10.37:g.100152754G>C	ENSP00000359607:p.Ser291Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.S291C	ENST00000370575.4	37	c.872	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407691	0.83340	.	.	ENSG00000119943	ENST00000370575	T	0.60548	0.18	5.58	4.66	0.58398	.	0.219940	0.49305	N	0.000150	T	0.65333	0.2681	M	0.91717	3.235	0.58432	D	0.999999	P	0.37781	0.608	B	0.34346	0.18	T	0.73560	-0.3944	10	0.87932	D	0	-29.141	14.3918	0.66983	0.0:0.1477:0.8523:0.0	.	291	Q8N2H3	PYRD2_HUMAN	C	291	ENSP00000359607:S291C	ENSP00000359607:S291C	S	-	2	0	PYROXD2	100142744	1.000000	0.71417	0.928000	0.36995	0.969000	0.65631	9.277000	0.95755	1.326000	0.45319	0.655000	0.94253	TCT	PYROXD2	-	NULL		0.592	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	G	NM_032709		100152754	-1	no_errors	ENST00000370575	ensembl	human	known	70_37	missense	SNP	0.999	C
QARS	5859	genome.wustl.edu	37	3	49137068	49137068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49137068G>T	ENST00000306125.6	-	16	1738	c.1401C>A	c.(1399-1401)taC>taA	p.Y467*	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Nonsense_Mutation_p.Y456*			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	467					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAAGCCAGAAGTAGGAAGAGC	0.567																																																	0													64.0	65.0	65.0					3																	49137068		2203	4300	6503	SO:0001587	stop_gained	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1401C>A	3.37:g.49137068G>T	ENSP00000307567:p.Tyr467*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWJ2	Nonsense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.Y467*	ENST00000306125.6	37	c.1401	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.033730	0.98017	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	.	.	.	5.86	4.07	0.47477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2385	11.3864	0.49787	0.2588:0.0:0.7412:0.0	.	.	.	.	X	467;456	.	ENSP00000307567:Y467X	Y	-	3	2	QARS	49112072	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.714000	0.37961	0.410000	0.25675	-0.797000	0.03246	TAC	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib		0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	G	NM_005051		49137068	-1	no_errors	ENST00000306125	ensembl	human	known	70_37	nonsense	SNP	0.999	T
RAB11FIP2	22841	genome.wustl.edu	37	10	119798568	119798568	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:119798568C>T	ENST00000355624.3	-	3	1619	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E394K|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	394					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TGGCGATTTTCACTAAATGCA	0.363																																																	0													165.0	171.0	169.0					10																	119798568		2203	4300	6503	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1180G>A	10.37:g.119798568C>T	ENSP00000347839:p.Glu394Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E394K	ENST00000355624.3	37	c.1180	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862494	0.51482	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.64803	-0.08;-0.12	5.86	5.86	0.93980	.	0.426506	0.30714	N	0.009029	T	0.52419	0.1733	L	0.44542	1.39	0.47621	D	0.999479	P;P	0.40431	0.717;0.495	B;B	0.30251	0.113;0.077	T	0.50759	-0.8790	10	0.21540	T	0.41	-20.5294	20.5632	0.99335	0.0:1.0:0.0:0.0	.	394;394	Q3I768;Q7L804	.;RFIP2_HUMAN	K	394	ENSP00000347839:E394K;ENSP00000358200:E394K	ENSP00000347839:E394K	E	-	1	0	RAB11FIP2	119788558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.303000	0.72794	2.937000	0.99478	0.650000	0.86243	GAA	RAB11FIP2	-	NULL		0.363	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119798568	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB24	53917	genome.wustl.edu	37	5	176730095	176730095	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:176730095G>A	ENST00000303251.6	-	2	537				PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.S5F|RAB24_ENST00000393611.2_Intron	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			CGAGAGGGAAGAGATCGGGGC	0.637																																																	0													37.0	42.0	41.0					5																	176730095		2203	4300	6503	SO:0001627	intron_variant	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.118-17C>T	5.37:g.176730095G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4Z7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S5F	ENST00000303251.6	37	c.14	CCDS34300.1	5	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644012	0.29246	.	.	ENSG00000169228	ENST00000303270	T	0.62788	0.0	4.66	0.585	0.17428	.	.	.	.	.	T	0.44498	0.1296	.	.	.	0.09310	N	0.999997	B	0.14805	0.011	B	0.08055	0.003	T	0.37056	-0.9722	8	0.59425	D	0.04	.	2.3038	0.04169	0.1749:0.1483:0.5243:0.1526	.	5	F8W8H5	.	F	5	ENSP00000302085:S5F	ENSP00000302085:S5F	S	-	2	0	RAB24	176662701	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-0.344000	0.07780	0.043000	0.15746	-0.350000	0.07774	TCT	RAB24	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.637	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB24	HGNC	protein_coding	OTTHUMT00000253416.1	G	NM_130781		176730095	-1	no_errors	ENST00000303270	ensembl	human	putative	70_37	missense	SNP	0.000	A
RAB26	25837	genome.wustl.edu	37	16	2201870	2201870	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2201870C>G	ENST00000210187.6	+	5	589	c.429C>G	c.(427-429)ctC>ctG	p.L143L	RAB26_ENST00000541451.1_Silent_p.L77L|RP11-304L19.5_ENST00000563192.1_lincRNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	143					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						TGCTGCTGCTCTACGATGTCA	0.617																																																	0													89.0	76.0	80.0					16																	2201870		2197	4299	6496	SO:0001819	synonymous_variant	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.429C>G	16.37:g.2201870C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAA6|Q3L6K5|Q6NXS7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L143	ENST00000210187.6	37	c.429	CCDS10460.1	16																																																																																			RAB26	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.617	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB26	HGNC	protein_coding	OTTHUMT00000250767.2	C			2201870	+1	no_errors	ENST00000210187	ensembl	human	known	70_37	silent	SNP	0.973	G
RAD54L	8438	genome.wustl.edu	37	1	46726987	46726987	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46726987C>G	ENST00000371975.4	+	8	1495	c.821C>G	c.(820-822)tCc>tGc	p.S274C	RAD54L_ENST00000442598.1_Missense_Mutation_p.S274C|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	274	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCATCATTTCCTATGAGACC	0.468								Direct reversal of damage;Homologous recombination																																									0													122.0	104.0	110.0					1																	46726987		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.821C>G	1.37:g.46726987C>G	ENSP00000361043:p.Ser274Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S274C	ENST00000371975.4	37	c.821	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241431	0.58995	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.94576	-3.46;-3.46	5.56	4.64	0.57946	DEAD-like helicase (2);SNF2-related (1);	0.050782	0.85682	N	0.000000	D	0.98346	0.9451	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99839	1.1060	10	0.87932	D	0	-14.2002	16.7965	0.85603	0.0:0.8711:0.1289:0.0	.	94;274	G3V1N0;Q92698	.;RAD54_HUMAN	C	274;274;94	ENSP00000396113:S274C;ENSP00000361043:S274C	ENSP00000361043:S274C	S	+	2	0	RAD54L	46499574	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	6.082000	0.71318	1.480000	0.48289	-0.305000	0.09177	TCC	RAD54L	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.468	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	C	NM_003579		46726987	+1	no_errors	ENST00000371975	ensembl	human	known	70_37	missense	SNP	1.000	G
RAB3GAP2	25782	genome.wustl.edu	37	1	220363789	220363789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:220363789G>A	ENST00000358951.2	-	15	1677	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	521					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGACAGATCTGATAAGTCTGT	0.423																																																	0													122.0	112.0	115.0					1																	220363789		2203	4300	6503	SO:0001587	stop_gained	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1561C>T	1.37:g.220363789G>A	ENSP00000351832:p.Gln521*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.Q521*	ENST00000358951.2	37	c.1561	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.945858	0.97956	.	.	ENSG00000118873	ENST00000358951	.	.	.	5.93	5.93	0.95920	.	0.050151	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	521	.	ENSP00000351832:Q521X	Q	-	1	0	RAB3GAP2	218430412	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	7.527000	0.81931	2.814000	0.96858	0.655000	0.94253	CAG	RAB3GAP2	-	superfamily_WD40_repeat_dom		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220363789	-1	no_errors	ENST00000358951	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RALGAPA1	253959	genome.wustl.edu	37	14	36211632	36211632	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:36211632C>G	ENST00000389698.3	-	11	1781	c.1391G>C	c.(1390-1392)tGc>tCc	p.C464S	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.C464S|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.C464S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.C464S|RALGAPA1_ENST00000554704.1_5'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	464					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTTTCAATGCAAGGGAGGTC	0.338																																																	0													37.0	37.0	37.0					14																	36211632		2203	4295	6498	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1391G>C	14.37:g.36211632C>G	ENSP00000374348:p.Cys464Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.C464S	ENST00000389698.3	37	c.1391	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619455	0.28801	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	4.98	4.08	0.47627	.	0.249612	0.44097	D	0.000499	T	0.61223	0.2330	L	0.33485	1.01	0.31019	N	0.718395	B;B;B;B;B	0.21821	0.061;0.006;0.007;0.007;0.001	B;B;B;B;B	0.23275	0.045;0.002;0.013;0.013;0.001	T	0.58962	-0.7543	10	0.31617	T	0.26	-3.0912	8.9239	0.35628	0.0:0.7709:0.1506:0.0786	.	464;464;464;464;464	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	S	464	ENSP00000374348:C464S;ENSP00000302647:C464S;ENSP00000258840:C464S;ENSP00000371803:C464S;ENSP00000451877:C464S	ENSP00000258840:C464S	C	-	2	0	RALGAPA1	35281383	1.000000	0.71417	0.528000	0.27938	0.636000	0.38137	5.961000	0.70356	1.069000	0.40788	0.484000	0.47621	TGC	RALGAPA1	-	NULL		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	C	XM_210022		36211632	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	G
RALGDS	5900	genome.wustl.edu	37	9	135985795	135985795	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:135985795C>G	ENST00000372050.3	-	3	397	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	RALGDS_ENST00000542690.1_Missense_Mutation_p.E197Q|RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000372062.3_Missense_Mutation_p.E109Q|RALGDS_ENST00000372047.3_Missense_Mutation_p.E126Q|RALGDS_ENST00000393160.3_Missense_Mutation_p.E71Q|RALGDS_ENST00000393157.3_Missense_Mutation_p.E125Q	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	126	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACCAGGTGCTCCACCAGCTTC	0.587			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													94.0	82.0	86.0					9																	135985795		2202	4300	6502	SO:0001583	missense	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.376G>C	9.37:g.135985795C>G	ENSP00000361120:p.Glu126Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E197Q	ENST00000372050.3	37	c.589	CCDS6959.1	9	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661797	0.67700	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.88	4.05	0.47172	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.424036	0.22489	N	0.059381	T	0.68632	0.3022	M	0.70787	2.145	0.37305	D	0.908884	D;D;D;D;D;D	0.71674	0.998;0.961;0.982;0.982;0.982;0.982	D;P;P;P;P;P	0.80764	0.994;0.454;0.767;0.824;0.824;0.824	T	0.73269	-0.4036	10	0.66056	D	0.02	.	10.439	0.44452	0.1342:0.7968:0.0:0.069	.	197;109;71;125;126;126	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	Q	126;126;71;125;197;109	ENSP00000361120:E126Q;ENSP00000361117:E126Q;ENSP00000376867:E71Q;ENSP00000376864:E125Q;ENSP00000437518:E197Q;ENSP00000361132:E109Q	ENSP00000361117:E126Q	E	-	1	0	RALGDS	134975616	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.796000	0.85898	0.827000	0.34685	0.655000	0.94253	GAG	RALGDS	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.587	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135985795	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	missense	SNP	1.000	G
RALYL	138046	genome.wustl.edu	37	8	85717004	85717004	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:85717004G>C	ENST00000521268.1	+	4	1437		c.e4-1		RALYL_ENST00000523850.1_Splice_Site|RALYL_ENST00000517638.1_Splice_Site|RALYL_ENST00000521695.1_Splice_Site|RALYL_ENST00000521376.1_Splice_Site|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000522455.1_Splice_Site	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ttttttCATAGACTTGAATCA	0.234																																																	0													7.0	6.0	7.0					8																	85717004		854	1911	2765	SO:0001630	splice_region_variant	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.333-1G>C	8.37:g.85717004G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Splice_Site	SNP	-	e3-1	ENST00000521268.1	37	c.333-1	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804310	0.70682	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000517638;ENST00000523850;ENST00000521376	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.514	0.75809	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALYL	85879559	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.192000	0.65115	2.724000	0.93272	0.563000	0.77884	.	RALYL	-	-		0.234	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	G		Intron	85717004	+1	no_errors	ENST00000521268	ensembl	human	known	70_37	splice_site	SNP	1.000	C
RAP2C	57826	genome.wustl.edu	37	X	131351087	131351087	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:131351087G>C	ENST00000342983.2	-	2	956	c.210C>G	c.(208-210)ctC>ctG	p.L70L	RAP2C_ENST00000370874.1_Silent_p.L70L|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000441399.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	70					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTTGATGTAGAGATCTCTCA	0.458																																																	0													108.0	102.0	104.0					X																	131351087		2203	4300	6503	SO:0001819	synonymous_variant	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.210C>G	X.37:g.131351087G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L70	ENST00000342983.2	37	c.210	CCDS14632.1	X																																																																																			RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	G	NM_021183		131351087	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	silent	SNP	1.000	C
RARB	5915	genome.wustl.edu	37	3	25542705	25542705	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:25542705G>C	ENST00000404969.1	+	3	360	c.360G>C	c.(358-360)atG>atC	p.M120I	RARB_ENST00000458646.1_Start_Codon_SNP_p.M1I|RARB_ENST00000437042.2_Start_Codon_SNP_p.M1I|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.M113I			P10826	RARB_HUMAN	retinoic acid receptor, beta	120					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAAGAATATGATTTACACTT	0.393																																																	0													108.0	110.0	109.0					3																	25542705		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.360G>C	3.37:g.25542705G>C	ENSP00000385865:p.Met120Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.M120I	ENST00000404969.1	37	c.360		3	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733329	0.69189	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.96967	-4.19;-4.19;-3.09;-4.19;-3.09	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	N	0.25031	0.7	0.80722	D	1	P;P	0.45569	0.854;0.861	P;P	0.59012	0.85;0.794	D	0.97321	0.9944	10	0.87932	D	0	.	18.2626	0.90041	0.0:0.0:1.0:0.0	.	120;113	P10826;F1D8S6	RARB_HUMAN;.	I	120;120;120;1;113;1	ENSP00000373282:M120I;ENSP00000385865:M120I;ENSP00000398840:M1I;ENSP00000332296:M113I;ENSP00000391391:M1I	ENSP00000332296:M113I	M	+	3	0	RARB	25517709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.286000	0.76751	0.650000	0.86243	ATG	RARB	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.393	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		G	NM_000965, NM_016152		25542705	+1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	C
RASA1	5921	genome.wustl.edu	37	5	86682699	86682699	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:86682699C>T	ENST00000274376.6	+	23	3468	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	RASA1_ENST00000512763.1_Silent_p.I801I|RASA1_ENST00000506290.1_Silent_p.I802I|RASA1_ENST00000456692.2_Silent_p.I791I	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	968					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATCGTATGATCATGTTTTTAG	0.343																																																	0													160.0	158.0	158.0					5																	86682699		2203	4299	6502	SO:0001819	synonymous_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2904C>T	5.37:g.86682699C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6W3|Q9UDI1	Silent	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.I968	ENST00000274376.6	37	c.2904	CCDS34200.1	5																																																																																			RASA1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.343	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86682699	+1	no_errors	ENST00000274376	ensembl	human	known	70_37	silent	SNP	1.000	T
RASA2	5922	genome.wustl.edu	37	3	141289800	141289800	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141289800G>A	ENST00000452898.1	+	10	945	c.910G>A	c.(910-912)Gat>Aat	p.D304N	RASA2_ENST00000286364.3_Missense_Mutation_p.D304N	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	304					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATCCAAAACTGATGACCTGGG	0.378																																																	0													48.0	49.0	49.0					3																	141289800		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.910G>A	3.37:g.141289800G>A	ENSP00000391677:p.Asp304Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D304N	ENST00000452898.1	37	c.910		3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366830	0.82463	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70869	-0.52;-0.52	5.46	5.46	0.80206	Ras GTPase-activating protein (1);	0.051007	0.85682	D	0.000000	T	0.79269	0.4417	L	0.46157	1.445	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.992	P;D;P	0.66979	0.889;0.948;0.889	T	0.74166	-0.3753	10	0.23302	T	0.38	.	19.2936	0.94112	0.0:0.0:1.0:0.0	.	304;304;304	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	N	304	ENSP00000286364:D304N;ENSP00000391677:D304N	ENSP00000286364:D304N	D	+	1	0	RASA2	142772490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.580000	0.87095	0.650000	0.86243	GAT	RASA2	-	smart_RasGAP		0.378	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141289800	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A
RASA2	5922	genome.wustl.edu	37	3	141289803	141289803	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141289803G>A	ENST00000452898.1	+	10	948	c.913G>A	c.(913-915)Gac>Aac	p.D305N	RASA2_ENST00000286364.3_Missense_Mutation_p.D305N	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	305					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CAAAACTGATGACCTGGGGTC	0.378																																																	0													47.0	48.0	48.0					3																	141289803		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.913G>A	3.37:g.141289803G>A	ENSP00000391677:p.Asp305Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D305N	ENST00000452898.1	37	c.913		3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489138	0.84962	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70749	-0.51;-0.51	5.46	5.46	0.80206	Ras GTPase-activating protein (1);	0.050081	0.85682	D	0.000000	T	0.81336	0.4801	L	0.58925	1.835	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.70016	0.928;0.967;0.928	T	0.77000	-0.2750	10	0.25106	T	0.35	.	19.2936	0.94112	0.0:0.0:1.0:0.0	.	305;305;305	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	N	305	ENSP00000286364:D305N;ENSP00000391677:D305N	ENSP00000286364:D305N	D	+	1	0	RASA2	142772493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.110000	0.94302	2.580000	0.87095	0.650000	0.86243	GAC	RASA2	-	smart_RasGAP		0.378	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141289803	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A
RASA2	5922	genome.wustl.edu	37	3	141290341	141290341	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141290341G>A	ENST00000452898.1	+	11	1149	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	RASA2_ENST00000286364.3_Missense_Mutation_p.D372N	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	372	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCTGCACCATGATAAACTTGT	0.358																																																	0													173.0	164.0	167.0					3																	141290341		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1114G>A	3.37:g.141290341G>A	ENSP00000391677:p.Asp372Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D372N	ENST00000452898.1	37	c.1114		3	.	.	.	.	.	.	.	.	.	.	G	7.614	0.675479	0.14841	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.15487	2.42;2.42	5.44	3.36	0.38483	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.288498	0.37577	N	0.002036	T	0.04634	0.0126	N	0.01352	-0.895	0.36366	D	0.861009	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.24225	-1.0166	10	0.21014	T	0.42	.	4.8306	0.13437	0.2557:0.3737:0.3706:0.0	.	372;372;372	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	N	372	ENSP00000286364:D372N;ENSP00000391677:D372N	ENSP00000286364:D372N	D	+	1	0	RASA2	142773031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.537000	0.53590	1.258000	0.44101	0.484000	0.47621	GAT	RASA2	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.358	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141290341	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A
RASA2	5922	genome.wustl.edu	37	3	141291503	141291503	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141291503G>A	ENST00000452898.1	+	12	1257	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	RASA2_ENST00000286364.3_Missense_Mutation_p.E408K	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	408	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATGTCTGGATGAGATGATGAA	0.363																																																	0													111.0	111.0	111.0					3																	141291503		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1222G>A	3.37:g.141291503G>A	ENSP00000391677:p.Glu408Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.E408K	ENST00000452898.1	37	c.1222		3	.	.	.	.	.	.	.	.	.	.	G	36	5.815700	0.96982	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.80653	-1.4;-1.4	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.055327	0.64402	D	0.000001	D	0.88683	0.6503	L	0.58669	1.825	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.75484	0.986;0.959;0.976	D	0.88609	0.3155	10	0.66056	D	0.02	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	408;408;408	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	K	408	ENSP00000286364:E408K;ENSP00000391677:E408K	ENSP00000286364:E408K	E	+	1	0	RASA2	142774193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	GAG	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.363	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141291503	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A
RASAL1	8437	genome.wustl.edu	37	12	113537812	113537812	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:113537812G>A	ENST00000261729.5	-	22	2652	c.2337C>T	c.(2335-2337)ctC>ctT	p.L779L	RASAL1_ENST00000548055.1_Silent_p.L780L|RASAL1_ENST00000546530.1_Silent_p.L781L|RASAL1_ENST00000446861.3_Silent_p.L751L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	779					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCAGGTCTGCGAGCACCTCCA	0.677																																																	0													30.0	35.0	33.0					12																	113537812		2203	4300	6503	SO:0001819	synonymous_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2337C>T	12.37:g.113537812G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.L781	ENST00000261729.5	37	c.2343	CCDS9165.1	12																																																																																			RASAL1	-	NULL		0.677	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	G	NM_004658		113537812	-1	no_errors	ENST00000546530	ensembl	human	known	70_37	silent	SNP	0.000	A
RASAL1	8437	genome.wustl.edu	37	12	113553053	113553053	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:113553053G>A	ENST00000261729.5	-	12	1335	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.L340L|RASAL1_ENST00000546530.1_Silent_p.L340L|RASAL1_ENST00000446861.3_Silent_p.L340L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	340	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TAGAACGGAAGAGGGTGTTGG	0.567																																																	0													186.0	191.0	189.0					12																	113553053		2203	4300	6503	SO:0001819	synonymous_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1020C>T	12.37:g.113553053G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.L340	ENST00000261729.5	37	c.1020	CCDS9165.1	12																																																																																			RASAL1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.567	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	G	NM_004658		113553053	-1	no_errors	ENST00000546530	ensembl	human	known	70_37	silent	SNP	1.000	A
RASGRP4	115727	genome.wustl.edu	37	19	38905556	38905556	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:38905556C>G	ENST00000587738.1	-	9	1232	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	RASGRP4_ENST00000293062.9_Missense_Mutation_p.E291Q|RASGRP4_ENST00000587753.1_Splice_Site_p.E319Q|RASGRP4_ENST00000454404.2_Missense_Mutation_p.E354Q|RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E374Q			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	388	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCACCAGCTCCTGCAGCCGC	0.672																																																	0													17.0	23.0	21.0					19																	38905556		2028	4168	6196	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1162G>C	19.37:g.38905556C>G	ENSP00000465772:p.Glu388Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.E388Q	ENST00000587738.1	37	c.1162	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434892	0.83885	.	.	ENSG00000171777	ENST00000293062;ENST00000405332;ENST00000454404	T	0.31769	1.48	4.96	4.96	0.65561	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.152745	0.56097	D	0.000022	T	0.53802	0.1819	M	0.67397	2.05	0.40483	D	0.98046	P;D;P;D;D	0.89917	0.879;0.999;0.847;1.0;0.999	P;D;P;D;D	0.80764	0.772;0.994;0.781;0.994;0.994	T	0.57021	-0.7882	10	0.62326	D	0.03	-17.8952	15.7444	0.77926	0.0:1.0:0.0:0.0	.	291;354;319;374;388	C0LTP7;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;GRP4_HUMAN	Q	291;388;388	ENSP00000293062:E291Q	ENSP00000293062:E291Q	E	-	1	0	RASGRP4	43597396	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.209000	0.77916	2.564000	0.86499	0.561000	0.74099	GAG	RASGRP4	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.672	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38905556	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	1.000	G
RASSF4	83937	genome.wustl.edu	37	10	45477983	45477983	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:45477983G>A	ENST00000340258.5	+	4	266	c.153G>A	c.(151-153)ctG>ctA	p.L51L	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.L33L|RASSF4_ENST00000374417.2_Silent_p.L51L	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGGACTCTGATCATCGAGG	0.632																																																	0													73.0	84.0	81.0					10																	45477983		2203	4300	6503	SO:0001819	synonymous_variant	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.153G>A	10.37:g.45477983G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.L33	ENST00000340258.5	37	c.99	CCDS7208.1	10																																																																																			RASSF4	-	NULL		0.632	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	G	NM_032023		45477983	+1	no_errors	ENST00000334940	ensembl	human	known	70_37	silent	SNP	1.000	A
RAVER1	125950	genome.wustl.edu	37	19	10441138	10441138	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10441138G>T	ENST00000293677.6	-	2	416	c.335C>A	c.(334-336)aCa>aAa	p.T112K		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	95	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCACAAACCTGTCCCTTTGTA	0.537																																																	0													68.0	69.0	68.0					19																	10441138		1905	4112	6017	SO:0001583	missense	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.335C>A	19.37:g.10441138G>T	ENSP00000293677:p.Thr112Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T112K	ENST00000293677.6	37	c.335	CCDS45960.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522693	0.85600	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.08370	3.1	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	M	0.80616	2.505	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.10405	-1.0631	10	0.87932	D	0	-17.0599	14.6449	0.68754	0.0:0.0:1.0:0.0	.	112	E9PAU2	.	K	112;95	ENSP00000293677:T112K	ENSP00000293677:T112K	T	-	2	0	RAVER1	10302138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.305000	0.96197	2.025000	0.59659	0.462000	0.41574	ACA	RAVER1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.537	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	G	NM_133452		10441138	-1	no_errors	ENST00000293677	ensembl	human	known	70_37	missense	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	48942733	48942733	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:48942733C>G	ENST00000267163.4	+	11	1258	c.1120C>G	c.(1120-1122)Cca>Gca	p.P374A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	374	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCCACACACTCCAGTTAGGTA	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											91.0	84.0	87.0					13																	48942733		2203	4299	6502	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1120C>G	13.37:g.48942733C>G	ENSP00000267163:p.Pro374Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.P374A	ENST00000267163.4	37	c.1120	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102033	0.76983	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.95342	-3.68	5.93	5.93	0.95920	Retinoblastoma-associated protein, A-box (1);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.80982	2.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97561	1.0098	10	0.87932	D	0	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	374	P06400	RB_HUMAN	A	353;374	ENSP00000267163:P374A	ENSP00000267163:P374A	P	+	1	0	RB1	47840734	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	CCA	RB1	-	pfam_RB_A		0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			48942733	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	G
RBBP8	5932	genome.wustl.edu	37	18	20564878	20564878	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:20564878C>T	ENST00000399722.2	+	8	985	c.634C>T	c.(634-636)Cat>Tat	p.H212Y	RBBP8_ENST00000327155.5_Missense_Mutation_p.H212Y|RBBP8_ENST00000360790.5_Missense_Mutation_p.H212Y|RBBP8_ENST00000399725.2_Missense_Mutation_p.H212Y	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	212					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.H212Y(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GTCTTCAACTCATCCACAACA	0.308								Homologous recombination																																									2	Substitution - Missense(2)	lung(2)											82.0	81.0	82.0					18																	20564878		2203	4298	6501	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.634C>T	18.37:g.20564878C>T	ENSP00000382628:p.His212Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.H212Y	ENST00000399722.2	37	c.634	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525208	0.44969	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.31510	1.51;1.49;1.51;1.51;1.51	5.65	4.76	0.60689	.	0.766529	0.12485	N	0.464727	T	0.31136	0.0787	L	0.51422	1.61	0.80722	D	1	P;B;P	0.36086	0.536;0.396;0.536	B;B;B	0.37198	0.243;0.188;0.243	T	0.02942	-1.1091	10	0.38643	T	0.18	-5.3807	11.8236	0.52254	0.1755:0.8245:0.0:0.0	.	212;212;212	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Y	212	ENSP00000323050:H212Y;ENSP00000382630:H212Y;ENSP00000382628:H212Y;ENSP00000382627:H212Y;ENSP00000354024:H212Y	ENSP00000323050:H212Y	H	+	1	0	RBBP8	18818876	0.313000	0.24554	0.906000	0.35671	0.980000	0.70556	1.181000	0.32017	1.343000	0.45638	0.561000	0.74099	CAT	RBBP8	-	NULL		0.308	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	C	NM_203291		20564878	+1	no_errors	ENST00000327155	ensembl	human	known	70_37	missense	SNP	0.986	T
RBL2	5934	genome.wustl.edu	37	16	53524767	53524767	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:53524767C>T	ENST00000262133.6	+	0	4112				RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2						chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTTCCCTCTCCCCATTCGGT	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.*555C>T	16.37:g.53524767C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z913|Q15073|Q16084|Q8NE70|Q92812	RNA	SNP	-	NULL	ENST00000262133.6	37	NULL	CCDS10748.1	16																																																																																			RBL2	-	-		0.498	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	C	NM_005611		53524767	+1	no_errors	ENST00000379935	ensembl	human	known	70_37	rna	SNP	0.007	T
RBM20	282996	genome.wustl.edu	37	10	112541279	112541279	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:112541279G>A	ENST00000369519.3	+	2	970	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	304					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CTGGGGGCCTGAAAAGTGAGG	0.577																																																	0													49.0	53.0	52.0					10																	112541279		692	1591	2283	SO:0001819	synonymous_variant	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.912G>A	10.37:g.112541279G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Silent	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L304	ENST00000369519.3	37	c.912	CCDS44477.1	10																																																																																			RBM20	-	NULL		0.577	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112541279	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	silent	SNP	0.557	A
RBM20	282996	genome.wustl.edu	37	10	112541507	112541507	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:112541507G>A	ENST00000369519.3	+	2	1198	c.1140G>A	c.(1138-1140)cgG>cgA	p.R380R		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	380					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						GTGCTGGGCGGAGGGCCAAGG	0.597																																																	0													68.0	62.0	64.0					10																	112541507		692	1591	2283	SO:0001819	synonymous_variant	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.1140G>A	10.37:g.112541507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP5|B5A868|Q5JVI1	Silent	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.R380	ENST00000369519.3	37	c.1140	CCDS44477.1	10																																																																																			RBM20	-	NULL		0.597	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112541507	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	silent	SNP	0.512	A
RBM27	54439	genome.wustl.edu	37	5	145613045	145613045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145613045C>T	ENST00000265271.5	+	7	1049	c.883C>T	c.(883-885)Cag>Tag	p.Q295*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.Q295*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	295					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTTTGTCAGTTTGATCA	0.403																																																	0													247.0	223.0	230.0					5																	145613045		1568	3582	5150	SO:0001587	stop_gained	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.883C>T	5.37:g.145613045C>T	ENSP00000265271:p.Gln295*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q295*	ENST00000265271.5	37	c.883	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.092432	0.98059	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-9.424	19.5669	0.95397	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000265271:Q295X	Q	+	1	0	RBM27	145593238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.927000	0.75840	2.694000	0.91930	0.655000	0.94253	CAG	RBM27	-	pfam_Znf_CCCH		0.403	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	C	XM_291128		145613045	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145651202	145651202	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145651202G>A	ENST00000265271.5	+	19	3119	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	RBM27_ENST00000506502.1_Missense_Mutation_p.E930K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	985					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGATTCATTGAGGAAGAAAA	0.448																																																	0													129.0	124.0	126.0					5																	145651202		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2953G>A	5.37:g.145651202G>A	ENSP00000265271:p.Glu985Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.E985K	ENST00000265271.5	37	c.2953	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762295	0.69763	.	.	ENSG00000091009	ENST00000265271	T	0.48201	0.82	5.04	5.04	0.67666	.	0.072326	0.56097	D	0.000024	T	0.42539	0.1207	L	0.47190	1.495	0.47341	D	0.999398	P	0.34662	0.462	B	0.28638	0.092	T	0.39165	-0.9627	10	0.41790	T	0.15	-15.1088	18.7687	0.91882	0.0:0.0:1.0:0.0	.	985	Q9P2N5	RBM27_HUMAN	K	985	ENSP00000265271:E985K	ENSP00000265271:E985K	E	+	1	0	RBM27	145631395	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	3.758000	0.55220	2.517000	0.84864	0.650000	0.86243	GAG	RBM27	-	NULL		0.448	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145651202	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	missense	SNP	0.998	A
RBM34	23029	genome.wustl.edu	37	1	235299401	235299401	+	Intron	SNP	G	G	C	rs576130459		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:235299401G>C	ENST00000408888.3	-	9	1080				RBM34_ENST00000495224.1_5'UTR|RBM34_ENST00000366606.3_Intron			P42696	RBM34_HUMAN	RNA binding motif protein 34							nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GAAACAAAAAGACAGTTAATA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19472	0.0		0.0	False		,,,				2504	0.0																0													44.0	39.0	40.0					1																	235299401		1849	4081	5930	SO:0001627	intron_variant	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.850-13C>G	1.37:g.235299401G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8J7|Q8N2Z8|Q9H5A1	RNA	SNP	-	NULL	ENST00000408888.3	37	NULL	CCDS41477.2	1																																																																																			RBM34	-	-		0.363	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	G	NM_015014		235299401	-1	no_errors	ENST00000495224	ensembl	human	known	70_37	rna	SNP	0.096	C
RBM39	9584	genome.wustl.edu	37	20	34324513	34324513	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:34324513G>C	ENST00000253363.6	-	3	125				RBM39_ENST00000407261.4_Intron|RBM39_ENST00000528062.3_Intron|RBM39_ENST00000463098.1_5'Flank|RBM39_ENST00000397370.3_Intron|RBM39_ENST00000361162.6_Intron			Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GAGCCAAAAAGAAATCAAATA	0.338																																																	0																																										SO:0001627	intron_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.101+2376C>G	20.37:g.34324513G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	RNA	SNP	-	NULL	ENST00000253363.6	37	NULL	CCDS13266.1	20																																																																																			RBM39	-	-		0.338	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	G	NM_184237		34324513	-1	no_errors	ENST00000498280	ensembl	human	putative	70_37	rna	SNP	0.115	C
RBM39	9584	genome.wustl.edu	37	20	34329876	34329876	+	5'Flank	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:34329876C>T	ENST00000253363.6	-	0	0				RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_5'UTR|RBM39_ENST00000463098.1_5'UTR|RBM39_ENST00000397370.3_5'UTR|RBM39_ENST00000361162.6_5'UTR			Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTCCGGCCTTCGGGCGCCTGT	0.612																																																	0																																										SO:0001631	upstream_gene_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358		20.37:g.34329876C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	RNA	SNP	-	NULL	ENST00000253363.6	37	NULL	CCDS13266.1	20																																																																																			RBM39	-	-		0.612	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	C	NM_184237		34329876	-1	no_errors	ENST00000463098	ensembl	human	known	70_37	rna	SNP	0.933	T
RBM43	375287	genome.wustl.edu	37	2	152107565	152107565	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:152107565T>G	ENST00000331426.5	-	4	1080	c.929A>C	c.(928-930)aAa>aCa	p.K310T		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	310							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ACATGCCCTTTTGATCATTCT	0.353																																																	0													142.0	139.0	140.0					2																	152107565		2203	4300	6503	SO:0001583	missense	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.929A>C	2.37:g.152107565T>G	ENSP00000331211:p.Lys310Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMT5	Missense_Mutation	SNP	pfscan_RRM_dom	p.K310T	ENST00000331426.5	37	c.929	CCDS2191.1	2	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960898	0.34565	.	.	ENSG00000184898	ENST00000331426	T	0.51817	0.69	5.48	-6.12	0.02124	.	1.652540	0.02816	N	0.124938	T	0.28400	0.0702	N	0.24115	0.695	0.09310	N	0.999999	B	0.15930	0.015	B	0.12837	0.008	T	0.15867	-1.0422	10	0.44086	T	0.13	0.4605	2.9566	0.05878	0.2085:0.4092:0.1062:0.2761	.	310	Q6ZSC3	RBM43_HUMAN	T	310	ENSP00000331211:K310T	ENSP00000331211:K310T	K	-	2	0	RBM43	151815811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.925000	0.03992	-0.635000	0.05531	0.533000	0.62120	AAA	RBM43	-	NULL		0.353	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2	T	NM_198557		152107565	-1	no_errors	ENST00000331426	ensembl	human	known	70_37	missense	SNP	0.000	G
RCSD1	92241	genome.wustl.edu	37	1	167673909	167673909	+	Silent	SNP	T	T	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:167673909T>C	ENST00000367854.3	+	7	1558	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	RCSD1_ENST00000537350.1_Silent_p.T379T	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	409					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGATGACACTCCTGTCCAGG	0.473																																																	0													127.0	112.0	117.0					1																	167673909		2203	4300	6503	SO:0001819	synonymous_variant	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.1227T>C	1.37:g.167673909T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.T409	ENST00000367854.3	37	c.1227	CCDS1263.1	1																																																																																			RCSD1	-	NULL		0.473	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	T	NM_052862		167673909	+1	no_errors	ENST00000367854	ensembl	human	known	70_37	silent	SNP	0.000	C
RDH10	157506	genome.wustl.edu	37	8	74235004	74235004	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:74235004C>G	ENST00000240285.5	+	5	1539	c.861C>G	c.(859-861)atC>atG	p.I287M	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.I122M|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	287					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			AGCCCATGATCTGCACTCCCC	0.517																																																	0													112.0	99.0	104.0					8																	74235004		2203	4300	6503	SO:0001583	missense	157506			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.861C>G	8.37:g.74235004C>G	ENSP00000240285:p.Ile287Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I287M	ENST00000240285.5	37	c.861	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158134	0.78114	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.89939	-2.59;0.51	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.099573	0.64402	D	0.000002	D	0.92694	0.7678	M	0.76170	2.325	0.54753	D	0.999981	D	0.60160	0.987	P	0.59221	0.854	D	0.92668	0.6147	10	0.62326	D	0.03	.	13.9131	0.63881	0.0:0.928:0.0:0.072	.	287	Q8IZV5	RDH10_HUMAN	M	287;122	ENSP00000240285:I287M;ENSP00000428132:I122M	ENSP00000240285:I287M	I	+	3	3	RDH10	74397558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.473000	0.45145	2.894000	0.99253	0.591000	0.81541	ATC	RDH10	-	NULL		0.517	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	C			74235004	+1	no_errors	ENST00000240285	ensembl	human	known	70_37	missense	SNP	1.000	G
RDH13	112724	genome.wustl.edu	37	19	55558771	55558771	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55558771G>A	ENST00000415061.3	-	6	887	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Silent_p.F177F|CTC-550B14.7_ENST00000593060.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	248					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TGGTGCTGGAGAAGGTGGAGC	0.657																																																	0													60.0	78.0	72.0					19																	55558771		2082	4219	6301	SO:0001819	synonymous_variant	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.744C>T	19.37:g.55558771G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX79|Q96G88	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.F248	ENST00000415061.3	37	c.744	CCDS54320.1	19																																																																																			RDH13	-	NULL		0.657	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	G	NM_138412		55558771	-1	no_errors	ENST00000415061	ensembl	human	known	70_37	silent	SNP	1.000	A
RECQL	5965	genome.wustl.edu	37	12	21629873	21629873	+	Silent	SNP	G	G	C	rs138413466		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:21629873G>C	ENST00000444129.2	-	8	1389	c.921C>G	c.(919-921)ctC>ctG	p.L307L	RECQL_ENST00000421138.2_Silent_p.L307L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	307	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCCATTAATGAGCTTTACAA	0.318								Other identified genes with known or suspected DNA repair function																																									0													108.0	101.0	103.0					12																	21629873		2202	4299	6501	SO:0001819	synonymous_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.921C>G	12.37:g.21629873G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L307	ENST00000444129.2	37	c.921	CCDS31756.1	12																																																																																			RECQL	-	pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.318	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	G	NM_002907		21629873	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	silent	SNP	1.000	C
MFSD3	113655	genome.wustl.edu	37	8	145737344	145737344	+	IGR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:145737344C>G	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.E1115Q|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCCCGGCTCCTGCCCTTCC	0.677																																																	0													23.0	26.0	25.0					8																	145737344		2122	4234	6356	SO:0001628	intergenic_variant	9401				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737344C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000301327.4	37	NULL	CCDS6431.1	8																																																																																			RECQL4	-	-		0.677	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	C	NM_138431		145737344	-1	no_errors	ENST00000301323	ensembl	human	known	70_37	rna	SNP	0.001	G
RELA	5970	genome.wustl.edu	37	11	65422192	65422193	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65422192_65422193TC>AG	ENST00000406246.3	-	11	1573_1574	c.1312_1313GA>CT	c.(1312-1314)GAg>CTg	p.E438L	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.E435L	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	438	Activation domain.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						cagcagggcctctGACAGCGTT	0.653																																																	0																																										SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1312_1313delinsAG	11.37:g.65422192_65422193delinsAG	ENSP00000384273:p.Glu438Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E438V|p.E438Q	ENST00000406246.3	37	c.1313|c.1312	CCDS31609.1	11																																																																																			RELA	-	NULL		0.653	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	T|C	NM_021975		65422192|65422193	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	0.992|0.932	A|G
RELA	5970	genome.wustl.edu	37	11	65423153	65423153	+	Intron	SNP	C	C	A	rs55764628|rs397897633	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423153C>A	ENST00000406246.3	-	10	1295				RELA_ENST00000525693.1_Missense_Mutation_p.D347Y|RELA_ENST00000308639.9_Intron	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A						acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						AAAAGGAAATCCTTACCTGGC	0.582																																																	0													60.0	58.0	59.0					11																	65423153		2201	4297	6498	SO:0001627	intron_variant	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1033+5G>T	11.37:g.65423153C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.D347Y	ENST00000406246.3	37	c.1039	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865140	0.32977	.	.	ENSG00000173039	ENST00000525693	T	0.49139	0.79	3.93	2.99	0.34606	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	B	0.26445	0.149	B	0.30855	0.121	T	0.29912	-0.9996	8	0.52906	T	0.07	.	9.1941	0.37217	0.0:0.7772:0.2228:0.0	.	347	Q2TAM5	.	Y	347	ENSP00000432537:D347Y	ENSP00000432537:D347Y	D	-	1	0	RELA	65179729	0.110000	0.22057	0.436000	0.26797	0.860000	0.49131	0.001000	0.13038	0.844000	0.35094	0.555000	0.69702	GAT	RELA	-	NULL		0.582	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423153	-1	no_errors	ENST00000525693	ensembl	human	putative	70_37	missense	SNP	0.702	A
RELA	5970	genome.wustl.edu	37	11	65423345	65423345	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423345C>T	ENST00000406246.3	-	9	1200	c.939G>A	c.(937-939)atG>atA	p.M313I	RELA_ENST00000525693.1_Missense_Mutation_p.M313I|RELA_ENST00000308639.9_Missense_Mutation_p.M310I	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	313					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GACTCTTCTTCATGATGCTCT	0.557																																																	0													223.0	197.0	206.0					11																	65423345		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.939G>A	11.37:g.65423345C>T	ENSP00000384273:p.Met313Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.M313I	ENST00000406246.3	37	c.939	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999578	0.35320	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.78	3.8	0.43715	Immunoglobulin E-set (1);	0.077843	0.48767	D	0.000167	T	0.16981	0.0408	N	0.21373	0.66	0.40288	D	0.978478	B;B;B;B;B;B	0.31241	0.123;0.315;0.027;0.016;0.009;0.002	B;B;B;B;B;B	0.28784	0.014;0.094;0.026;0.011;0.016;0.016	T	0.04664	-1.0935	10	0.07482	T	0.82	-20.417	12.1283	0.53928	0.0:0.8255:0.1745:0.0	.	303;300;310;313;324;313	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	I	313;313;310;324;324	ENSP00000384273:M313I;ENSP00000432537:M313I;ENSP00000311508:M310I;ENSP00000433526:M324I	ENSP00000311508:M310I	M	-	3	0	RELA	65179921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.155000	0.31700	2.209000	0.71365	0.555000	0.69702	ATG	RELA	-	superfamily_Ig_E-set		0.557	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423345	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	1.000	T
RELA	5970	genome.wustl.edu	37	11	65423365	65423365	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423365C>T	ENST00000406246.3	-	9	1180	c.919G>A	c.(919-921)Gag>Aag	p.E307K	RELA_ENST00000525693.1_Missense_Mutation_p.E307K|RELA_ENST00000308639.9_Missense_Mutation_p.E304K	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	307					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TTGAAGGTCTCATATGTCCTT	0.567																																																	0													215.0	187.0	196.0					11																	65423365		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.919G>A	11.37:g.65423365C>T	ENSP00000384273:p.Glu307Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E307K	ENST00000406246.3	37	c.919	CCDS31609.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036273|2.036273	0.35893|0.35893	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.09538|.	2.97;2.97;2.97;2.97|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Immunoglobulin E-set (1);|.	0.207046|.	0.40469|.	N|.	0.001098|.	T|T	0.62245|0.62245	0.2412|0.2412	L|L	0.47190|0.47190	1.495|1.495	0.43377|0.43377	D|D	0.995479|0.995479	P;P;P;B;B;B|.	0.44734|.	0.842;0.561;0.547;0.411;0.132;0.132|.	B;B;B;B;B;B|.	0.36808|.	0.233;0.066;0.098;0.045;0.051;0.038|.	T|T	0.59894|0.59894	-0.7368|-0.7368	10|5	0.13470|.	T|.	0.59|.	-21.9043|-21.9043	15.3177|15.3177	0.74095|0.74095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297;294;304;307;318;307|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	K|I	307;307;304;318;318|40	ENSP00000384273:E307K;ENSP00000432537:E307K;ENSP00000311508:E304K;ENSP00000433526:E318K|.	ENSP00000311508:E304K|.	E|M	-|-	1|3	0|0	RELA|RELA	65179941|65179941	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.427000|3.427000	0.52785|0.52785	2.209000|2.209000	0.71365|0.71365	0.555000|0.555000	0.69702|0.69702	GAG|ATG	RELA	-	superfamily_Ig_E-set		0.567	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423365	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	0.991	T
RELA	5970	genome.wustl.edu	37	11	65423404	65423404	+	Missense_Mutation	SNP	C	C	T	rs374605673		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423404C>T	ENST00000406246.3	-	9	1141	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RELA_ENST00000525693.1_Missense_Mutation_p.D294N|RELA_ENST00000308639.9_Missense_Mutation_p.D291N	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	294	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGGTGACGATCGTCTGGGAAA	0.547																																																	0								C	ASN/ASP,ASN/ASP	0,4402		0,0,2201	111.0	99.0	103.0		871,880	4.8	1.0	11		103	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	RELA	NM_001145138.1,NM_021975.3	23,23	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	291/549,294/552	65423404	1,12995	2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.880G>A	11.37:g.65423404C>T	ENSP00000384273:p.Asp294Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.D294N	ENST00000406246.3	37	c.880	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158924	0.57368	0.0	1.16E-4	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.78	4.78	0.61160	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.87269	2.87	0.49915	D	0.999838	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	0.87578	0.996;0.998;0.995;0.989;0.99;0.996	D	0.83427	0.0036	10	0.87932	D	0	-12.4796	15.3177	0.74095	0.0:1.0:0.0:0.0	.	284;281;291;294;305;294	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	N	294;294;291;305;305	ENSP00000384273:D294N;ENSP00000432537:D294N;ENSP00000311508:D291N;ENSP00000433526:D305N	ENSP00000311508:D291N	D	-	1	0	RELA	65179980	1.000000	0.71417	0.998000	0.56505	0.605000	0.37080	4.976000	0.63785	2.209000	0.71365	0.555000	0.69702	GAT	RELA	-	superfamily_Ig_E-set,prints_NF_Rel_dor		0.547	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423404	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	1.000	T
RELA	5970	genome.wustl.edu	37	11	65429492	65429492	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65429492G>A	ENST00000406246.3	-	3	363	c.102C>T	c.(100-102)ttC>ttT	p.F34F	RELA_ENST00000525693.1_Silent_p.F34F|RELA_ENST00000308639.9_Silent_p.F34F	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	34	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						ACTTGTAGCGGAAGCGCATGC	0.667																																																	0													57.0	52.0	54.0					11																	65429492		2201	4297	6498	SO:0001819	synonymous_variant	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.102C>T	11.37:g.65429492G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.F34	ENST00000406246.3	37	c.102	CCDS31609.1	11																																																																																			RELA	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor		0.667	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	G	NM_021975		65429492	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	silent	SNP	1.000	A
RELL2	285613	genome.wustl.edu	37	5	141018420	141018420	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141018420G>A	ENST00000297164.3	+	2	1443	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RELL2_ENST00000518856.1_Silent_p.Q15Q|FCHSD1_ENST00000523856.1_5'Flank|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_Silent_p.Q81Q|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Silent_p.Q15Q	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	81					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCATCCAGAATGAAGGTG	0.507																																																	0													179.0	180.0	180.0					5																	141018420		2203	4300	6503	SO:0001819	synonymous_variant	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.243G>A	5.37:g.141018420G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	pfam_TNF_rcpt_RELT	p.Q81	ENST00000297164.3	37	c.243	CCDS4265.1	5																																																																																			RELL2	-	NULL		0.507	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	G	NM_173828		141018420	+1	no_errors	ENST00000297164	ensembl	human	known	70_37	silent	SNP	1.000	A
RFC1	5981	genome.wustl.edu	37	4	39313115	39313115	+	Missense_Mutation	SNP	G	G	A	rs367742770		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:39313115G>A	ENST00000381897.1	-	12	1571	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	480	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCATAGTCCGAATCAGATTC	0.363																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	112.0	115.0		1438,1438	3.9	1.0	4		115	0,8600		0,0,4300	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	480/1149,480/1148	39313115	1,13005	2203	4300	6503	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1438C>T	4.37:g.39313115G>A	ENSP00000371321:p.Arg480Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.R480W	ENST00000381897.1	37	c.1438	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188567	0.78789	2.27E-4	0.0	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.45668	0.89;0.89;0.89	5.71	3.89	0.44902	BRCT (3);	0.055874	0.64402	D	0.000001	T	0.68412	0.2998	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.76380	-0.2980	10	0.87932	D	0	-1.6137	14.9305	0.70911	0.0:0.0:0.7398:0.2601	.	480;480	P35251;P35251-2	RFC1_HUMAN;.	W	480;480;112	ENSP00000371321:R480W;ENSP00000261424:R480W;ENSP00000422129:R112W	ENSP00000261424:R480W	R	-	1	2	RFC1	38989510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.392000	0.52537	1.385000	0.46445	0.655000	0.94253	CGG	RFC1	-	superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom		0.363	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	G	NM_002913		39313115	-1	no_errors	ENST00000381897	ensembl	human	known	70_37	missense	SNP	1.000	A
RFT1	91869	genome.wustl.edu	37	3	53133448	53133448	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:53133448C>A	ENST00000296292.3	-	11	1218	c.1157G>T	c.(1156-1158)gGa>gTa	p.G386V	RP11-894J14.5_ENST00000607203.1_Nonsense_Mutation_p.E8*|RFT1_ENST00000394738.3_Missense_Mutation_p.G347V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	386					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTCTGTCACTCCATTGATGGC	0.488																																																	0													154.0	127.0	136.0					3																	53133448		2203	4300	6503	SO:0001583	missense	91869			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1157G>T	3.37:g.53133448C>A	ENSP00000296292:p.Gly386Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96J03	Missense_Mutation	SNP	pfam_RFT1	p.G386V	ENST00000296292.3	37	c.1157	CCDS2869.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995213	0.93167	.	.	ENSG00000163933	ENST00000296292;ENST00000394738	D;D	0.96365	-3.99;-3.99	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99494	1.0951	10	0.87932	D	0	.	18.5767	0.91157	0.0:1.0:0.0:0.0	.	347;386	B5MDE0;Q96AA3	.;RFT1_HUMAN	V	386;347	ENSP00000296292:G386V;ENSP00000378223:G347V	ENSP00000296292:G386V	G	-	2	0	RFT1	53108488	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.763000	0.85283	2.688000	0.91661	0.561000	0.74099	GGA	RFT1	-	pfam_RFT1		0.488	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFT1	HGNC	protein_coding	OTTHUMT00000157136.2	C	NM_052859		53133448	-1	no_errors	ENST00000296292	ensembl	human	known	70_37	missense	SNP	1.000	A
RGAG1	57529	genome.wustl.edu	37	X	109696910	109696910	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:109696910C>T	ENST00000465301.2	+	3	3311	c.3065C>T	c.(3064-3066)tCt>tTt	p.S1022F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1022F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1022										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTAGAGCCTCTGCTTCTGGA	0.502																																																	0													179.0	157.0	164.0					X																	109696910		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3065C>T	X.37:g.109696910C>T	ENSP00000419786:p.Ser1022Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.S1022F	ENST00000465301.2	37	c.3065	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691619	0.15039	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.54479	0.57;0.57	3.44	2.52	0.30459	.	0.967079	0.08380	N	0.954680	T	0.50871	0.1641	L	0.46157	1.445	0.09310	N	1	P	0.49090	0.919	P	0.49421	0.61	T	0.36383	-0.9750	9	.	.	.	-1.0885	4.5284	0.11992	0.0:0.6676:0.0:0.3324	.	1022	Q8NET4	RGAG1_HUMAN	F	1022;1022;583	ENSP00000419786:S1022F;ENSP00000441452:S1022F	.	S	+	2	0	RGAG1	109583566	0.643000	0.27269	0.014000	0.15608	0.019000	0.09904	2.005000	0.40864	0.754000	0.32968	0.600000	0.82982	TCT	RGAG1	-	NULL		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696910	+1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.086	T
RGL2	5863	genome.wustl.edu	37	6	33260080	33260080	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:33260080G>C	ENST00000497454.1	-	18	2628	c.2133C>G	c.(2131-2133)atC>atG	p.I711M	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|WDR46_ENST00000374617.4_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	711	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGAGGCTGGGATAGTCAGCT	0.567																																																	0													71.0	73.0	72.0					6																	33260080		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2133C>G	6.37:g.33260080G>C	ENSP00000420211:p.Ile711Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I711M	ENST00000497454.1	37	c.2133	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027808	0.54790	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.18657	2.2	5.64	2.33	0.28932	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.04153	-1.0973	10	0.87932	D	0	.	7.9	0.29729	0.3101:0.0:0.6899:0.0	.	711	O15211	RGL2_HUMAN	M	711;575	ENSP00000420211:I711M	ENSP00000400083:I575M	I	-	3	3	RGL2	33368058	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.270000	0.43355	0.683000	0.31428	0.643000	0.83706	ATC	RGL2	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.567	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33260080	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	1.000	C
RGPD3	653489	genome.wustl.edu	37	2	107041359	107041359	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:107041359C>T	ENST00000409886.3	-	20	3151	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1022K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1022					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCATCTTTCTCAAAGTCACCG	0.383																																																	0													1.0	2.0	1.0					2																	107041359		359	877	1236	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3064G>A	2.37:g.107041359C>T	ENSP00000386588:p.Glu1022Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1022K	ENST00000409886.3	37	c.3064	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	12.37	1.917853	0.33815	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.49432	0.78;0.78	2.35	2.35	0.29111	.	.	.	.	.	T	0.63094	0.2482	M	0.81341	2.54	0.24187	N	0.995565	D	0.76494	0.999	D	0.78314	0.991	T	0.53322	-0.8455	9	0.14656	T	0.56	-29.7867	8.221	0.31541	0.0:1.0:0.0:0.0	.	1022	A6NKT7	RGPD3_HUMAN	K	1022;780;1022	ENSP00000386588:E1022K;ENSP00000303659:E1022K	ENSP00000303659:E1022K	E	-	1	0	RGPD3	106407791	1.000000	0.71417	0.927000	0.36925	0.517000	0.34286	5.517000	0.67061	1.314000	0.45095	0.186000	0.17326	GAG	RGPD3	-	NULL		0.383	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	C	XM_929931		107041359	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	0.997	T
RGS19	10287	genome.wustl.edu	37	20	62705602	62705602	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:62705602G>A	ENST00000395042.1	-	5	623	c.357C>T	c.(355-357)ttC>ttT	p.F119F	RGS19_ENST00000332298.5_Silent_p.F119F|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	119	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGGCCAACCAGAAGAGCATGT	0.607																																																	0													89.0	73.0	79.0					20																	62705602		2203	4300	6503	SO:0001819	synonymous_variant	10287			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.357C>T	20.37:g.62705602G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.F119	ENST00000395042.1	37	c.357	CCDS13555.1	20																																																																																			RGS19	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.607	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	G	NM_005873		62705602	-1	no_errors	ENST00000332298	ensembl	human	known	70_37	silent	SNP	1.000	A
RGS7	6000	genome.wustl.edu	37	1	241032110	241032110	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:241032110C>T	ENST00000407727.1	-	7	492	c.493G>A	c.(493-495)Gag>Aag	p.E165K	RGS7_ENST00000366563.1_Missense_Mutation_p.E165K|RGS7_ENST00000366564.1_Missense_Mutation_p.E165K|RGS7_ENST00000366565.1_Missense_Mutation_p.E165K|RGS7_ENST00000348120.2_Missense_Mutation_p.E112K|RGS7_ENST00000446183.2_Missense_Mutation_p.E81K|RGS7_ENST00000366562.4_Missense_Mutation_p.E165K|RGS7_ENST00000331110.7_Missense_Mutation_p.E139K|RGS7_ENST00000401882.1_Missense_Mutation_p.E112K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	165					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAAATGAACTCCCACTTCCGG	0.478																																																	0													152.0	155.0	154.0					1																	241032110		2203	4300	6503	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.493G>A	1.37:g.241032110C>T	ENSP00000384428:p.Glu165Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E165K	ENST00000407727.1	37	c.493		1	.	.	.	.	.	.	.	.	.	.	C	36	5.602045	0.96614	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.34667	1.39;1.38;1.39;1.39;1.35;1.4;1.39;1.38;1.35	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.996;0.999;0.991	D;D;D;D;D;P	0.87578	0.967;0.995;0.998;0.975;0.993;0.904	T	0.55121	-0.8190	10	0.45353	T	0.12	-11.1705	19.1613	0.93533	0.0:1.0:0.0:0.0	.	81;139;112;165;165;165	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	K	139;165;165;165;112;81;165;165;112	ENSP00000331485:E139K;ENSP00000355523:E165K;ENSP00000355522:E165K;ENSP00000355521:E165K;ENSP00000341242:E112K;ENSP00000390138:E81K;ENSP00000355520:E165K;ENSP00000384428:E165K;ENSP00000385508:E112K	ENSP00000331485:E139K	E	-	1	0	RGS7	239098733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.768000	0.95171	0.655000	0.94253	GAG	RGS7	-	NULL		0.478	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		C	NM_002924		241032110	-1	no_errors	ENST00000407727	ensembl	human	known	70_37	missense	SNP	1.000	T
RHAG	6005	genome.wustl.edu	37	6	49578773	49578773	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:49578773G>A	ENST00000371175.4	-	7	1057	c.1031C>T	c.(1030-1032)gCa>gTa	p.A344V	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	344					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACAATGCCTGCAAGGCCTCC	0.468																																					Ovarian(176;476 2003 7720 43408 44749)												0													95.0	91.0	92.0					6																	49578773		2203	4300	6503	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1031C>T	6.37:g.49578773G>A	ENSP00000360217:p.Ala344Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.A344V	ENST00000371175.4	37	c.1031	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	G	7.555	0.663449	0.14710	.	.	ENSG00000112077	ENST00000371175;ENST00000418071;ENST00000539403	T	0.26067	1.76	5.03	4.16	0.48862	Ammonium transporter AmtB-like (3);	0.051864	0.85682	D	0.000000	T	0.10895	0.0266	L	0.49699	1.58	0.80722	D	1	P;B	0.39717	0.684;0.036	B;B	0.40444	0.329;0.1	T	0.06285	-1.0835	10	0.14656	T	0.56	-8.7115	9.3931	0.38386	0.1636:0.0:0.8364:0.0	.	344;344	Q9UHG9;Q02094	.;RHAG_HUMAN	V	344	ENSP00000360217:A344V	ENSP00000360217:A344V	A	-	2	0	RHAG	49686732	0.998000	0.40836	0.025000	0.17156	0.028000	0.11728	4.493000	0.60341	1.239000	0.43787	0.655000	0.94253	GCA	RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.468	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	G			49578773	-1	no_errors	ENST00000371175	ensembl	human	known	70_37	missense	SNP	0.830	A
RHOA	387	genome.wustl.edu	37	3	49397643	49397643	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49397643C>T	ENST00000418115.1	-	5	965	c.581G>A	c.(580-582)tGa>tAa	p.*194*	GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000496791.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	0					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCAAGGTTTCACAAGACAAG	0.403																																																	0													312.0	271.0	285.0					3																	49397643		2203	4300	6503	SO:0001819	synonymous_variant	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.581G>A	3.37:g.49397643C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.*194	ENST00000418115.1	37	c.581	CCDS2795.1	3																																																																																			RHOA	-	NULL		0.403	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	C	NM_001664		49397643	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	silent	SNP	1.000	T
RHOA	387	genome.wustl.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49397710C>G	ENST00000418115.1	-	5	898	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000496791.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	172					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTAGCCATTTCAAAAACCTCT	0.483																																																	0													350.0	288.0	309.0					3																	49397710		2203	4300	6503	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.514G>C	3.37:g.49397710C>G	ENSP00000400175:p.Glu172Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E172Q	ENST00000418115.1	37	c.514	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623170	0.87460	.	.	ENSG00000067560	ENST00000418115	T	0.71103	-0.54	6.03	6.03	0.97812	.	0.049449	0.85682	D	0.000000	T	0.75250	0.3824	N	0.17248	0.465	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.77574	-0.2537	10	0.59425	D	0.04	.	19.1349	0.93424	0.0:1.0:0.0:0.0	.	172	P61586	RHOA_HUMAN	Q	172	ENSP00000400175:E172Q	ENSP00000400175:E172Q	E	-	1	0	RHOA	49372714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	GAA	RHOA	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.483	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	C	NM_001664		49397710	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	missense	SNP	1.000	G
RHOBTB2	23221	genome.wustl.edu	37	8	22852085	22852085	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22852085G>A	ENST00000519685.1	+	0	272				RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_5'Flank	NM_001160036.1	NP_001153508.1	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGCCTGGAGGGAACACAGAGC	0.582																																																	0													101.0	109.0	107.0					8																	22852085		692	1591	2283	SO:0001623	5_prime_UTR_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000519685.1:c.-12G>A	8.37:g.22852085G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	RNA	SNP	-	NULL	ENST00000519685.1	37	NULL	CCDS55210.1	8																																																																																			RHOBTB2	-	-		0.582	RHOBTB2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000375197.2	G			22852085	+1	no_errors	ENST00000518534	ensembl	human	known	70_37	rna	SNP	0.000	A
RHOT1	55288	genome.wustl.edu	37	17	30520242	30520242	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:30520242G>A	ENST00000333942.6	+	10	966	c.727G>A	c.(727-729)Gac>Aac	p.D243N	RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.D243N|RHOT1_ENST00000581094.1_Missense_Mutation_p.D243N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D222N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D116N|RHOT1_ENST00000545287.2_Missense_Mutation_p.D243N|RHOT1_ENST00000358365.3_Missense_Mutation_p.D243N	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	243					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGGTGTGGCTGACAGTGGGTT	0.388																																																	0													98.0	92.0	94.0					17																	30520242		2203	4300	6503	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.727G>A	17.37:g.30520242G>A	ENSP00000334724:p.Asp243Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D243N	ENST00000333942.6	37	c.727	CCDS32612.1	17	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988887	0.53934	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.12672	2.66;2.66;2.66	5.49	5.49	0.81192	EF hand associated, type-2 (1);EF-hand-like domain (1);	0.086790	0.85682	D	0.000000	T	0.16514	0.0397	L	0.45352	1.415	0.80722	D	1	B;B;B;B	0.22541	0.071;0.006;0.016;0.016	B;B;B;B	0.26770	0.073;0.03;0.018;0.017	T	0.04203	-1.0969	10	0.29301	T	0.29	-3.1122	19.3749	0.94505	0.0:0.0:1.0:0.0	.	243;243;243;243	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	243	ENSP00000351132:D243N;ENSP00000378184:D243N;ENSP00000334724:D243N	ENSP00000334724:D243N	D	+	1	0	RHOT1	27544355	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.599000	0.67592	2.580000	0.87095	0.467000	0.42956	GAC	RHOT1	-	pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro		0.388	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	G	NM_018307		30520242	+1	no_errors	ENST00000358365	ensembl	human	known	70_37	missense	SNP	1.000	A
RIMBP3	85376	genome.wustl.edu	37	22	20457737	20457737	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20457737G>A	ENST00000426804.1	-	1	4049	c.3565C>T	c.(3565-3567)Cac>Tac	p.H1189Y	RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1189										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCCATCGGTGACACATGAAG	0.582																																																	0													1.0	1.0	1.0					22																	20457737		173	479	652	SO:0001583	missense	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3565C>T	22.37:g.20457737G>A	ENSP00000391564:p.His1189Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.H1189Y	ENST00000426804.1	37	c.3565	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792324	0.00623	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17213	2.29	3.42	-0.0478	0.13841	Fibronectin, type III (1);	1.496640	0.04056	N	0.305593	T	0.07683	0.0193	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23013	-1.0200	10	0.02654	T	1	0.3685	2.3249	0.04220	0.2898:0.0:0.4673:0.243	.	1095	Q9UFD9	RIM3A_HUMAN	Y	1095;1189	ENSP00000391564:H1189Y	ENSP00000347318:H1095Y	H	-	1	0	RIMBP3	18837737	0.000000	0.05858	0.001000	0.08648	0.231000	0.25187	0.046000	0.14035	0.221000	0.20879	0.184000	0.17185	CAC	RIMBP3	-	superfamily_Fibronectin_type3		0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	G	NM_015672		20457737	-1	no_errors	ENST00000426804	ensembl	human	known	70_37	missense	SNP	0.000	A
RIMKLA	284716	genome.wustl.edu	37	1	42865153	42865153	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:42865153C>T	ENST00000431473.3	+	2	371	c.242C>T	c.(241-243)tCa>tTa	p.S81L		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	81					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCAGTGCAGTCAGACAGTGAC	0.542																																																	0													60.0	50.0	53.0					1																	42865153		2203	4300	6503	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.242C>T	1.37:g.42865153C>T	ENSP00000414330:p.Ser81Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUS5	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.S81L	ENST00000431473.3	37	c.242	CCDS466.2	1	.	.	.	.	.	.	.	.	.	.	C	7.943	0.743229	0.15642	.	.	ENSG00000177181	ENST00000431473	.	.	.	4.82	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.48642	1.525	0.45634	D	0.998564	P	0.51653	0.947	P	0.48400	0.576	T	0.49560	-0.8927	9	0.87932	D	0	-21.7442	8.1598	0.31192	0.0:0.752:0.1598:0.0883	.	81	Q8IXN7	RIMKA_HUMAN	L	81	.	ENSP00000414330:S81L	S	+	2	0	RIMKLA	42637740	1.000000	0.71417	0.049000	0.19019	0.006000	0.05464	6.100000	0.71473	0.639000	0.30564	-0.859000	0.03014	TCA	RIMKLA	-	tigrfam_RpS6_RimK/Lys_biosynth_LsyX		0.542	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	HGNC	protein_coding	OTTHUMT00000019174.3	C	NM_173642		42865153	+1	no_errors	ENST00000431473	ensembl	human	known	70_37	missense	SNP	0.988	T
RIN1	9610	genome.wustl.edu	37	11	66099733	66099733	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:66099733C>T	ENST00000311320.4	-	0	2492				RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_3'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.E590K	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1						associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AATGACCCTTCTGGCCACTTC	0.642																																																	0													69.0	78.0	75.0					11																	66099733		2200	4295	6495	SO:0001624	3_prime_UTR_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.*14G>A	11.37:g.66099733C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15010|Q00427|Q96CC8	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_VPS9	p.E590K	ENST00000311320.4	37	c.1768	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512812	0.44660	.	.	ENSG00000174791	ENST00000424433	T	0.10192	2.9	3.8	1.78	0.24846	.	.	.	.	.	T	0.11580	0.0282	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26916	-1.0089	6	0.54805	T	0.06	.	4.9189	0.13860	0.0:0.6467:0.2213:0.132	.	.	.	.	K	590	ENSP00000400560:E590K	ENSP00000400560:E590K	E	-	1	0	RIN1	65856309	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	0.178000	0.16820	0.306000	0.22856	0.462000	0.41574	GAA	RIN1	-	pfscan_Ras-assoc		0.642	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	C	NM_004292		66099733	-1	no_errors	ENST00000424433	ensembl	human	known	70_37	missense	SNP	0.002	T
RIPK1	8737	genome.wustl.edu	37	6	3106006	3106006	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:3106006G>A	ENST00000259808.4	+	9	1595	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	RIPK1_ENST00000541791.1_Missense_Mutation_p.E387K|RIPK1_ENST00000380409.2_Missense_Mutation_p.E433K|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	433	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCAGAATACAGAGGGAAAAGG	0.498																																																	0													56.0	57.0	57.0					6																	3106006		2203	4300	6503	SO:0001583	missense	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1297G>A	6.37:g.3106006G>A	ENSP00000259808:p.Glu433Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E433K	ENST00000259808.4	37	c.1297	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	9.787	1.176908	0.21787	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.76186	-1.0;-0.46;-1.0	5.6	3.79	0.43588	.	0.954775	0.08798	N	0.892193	T	0.42449	0.1203	N	0.22421	0.69	0.09310	N	1	B;B	0.26400	0.148;0.109	B;B	0.21917	0.037;0.021	T	0.41161	-0.9524	10	0.45353	T	0.12	-9.8497	10.3621	0.44001	0.0748:0.1356:0.7896:0.0	.	387;433	Q13546-2;Q13546	.;RIPK1_HUMAN	K	433;387;433	ENSP00000259808:E433K;ENSP00000442294:E387K;ENSP00000369773:E433K	ENSP00000259808:E433K	E	+	1	0	RIPK1	3051005	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.924000	0.28777	0.697000	0.31718	0.655000	0.94253	GAG	RIPK1	-	NULL		0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	G	NM_003804		3106006	+1	no_errors	ENST00000259808	ensembl	human	known	70_37	missense	SNP	0.006	A
RNF167	26001	genome.wustl.edu	37	17	4844434	4844434	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:4844434G>A	ENST00000262482.6	+	3	803	c.147G>A	c.(145-147)ttG>ttA	p.L49L	RNF167_ENST00000575111.1_Silent_p.L49L|RNF167_ENST00000572430.1_Silent_p.L49L|RNF167_ENST00000576229.1_Silent_p.L14L|RNF167_ENST00000570492.1_3'UTR|SLC25A11_ENST00000225665.7_5'Flank|SLC25A11_ENST00000544061.2_5'Flank|RNF167_ENST00000571816.1_Silent_p.L49L	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	49	PA.				negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GGGCTACCTTGAGCCAGGAGG	0.483																																																	0													63.0	56.0	59.0					17																	4844434		2203	4300	6503	SO:0001819	synonymous_variant	26001			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.147G>A	17.37:g.4844434G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.L49	ENST00000262482.6	37	c.147	CCDS11060.1	17																																																																																			RNF167	-	NULL		0.483	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	G	NM_015528		4844434	+1	no_errors	ENST00000262482	ensembl	human	known	70_37	silent	SNP	0.998	A
RNF112	7732	genome.wustl.edu	37	17	19316316	19316316	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19316316C>G	ENST00000461366.1	+	4	662	c.447C>G	c.(445-447)atC>atG	p.I149M	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	149						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGCCTCATCCTTAGGATGG	0.657																																																	0													18.0	21.0	20.0					17																	19316316		2087	4221	6308	SO:0001583	missense	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.447C>G	17.37:g.19316316C>G	ENSP00000454919:p.Ile149Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O60633|Q7Z5V9	Missense_Mutation	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.I149M	ENST00000461366.1	37	c.447	CCDS58529.1	17																																																																																			RNF112	-	NULL		0.657	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	C	NM_007148		19316316	+1	no_errors	ENST00000461366	ensembl	human	novel	70_37	missense	SNP	0.581	G
RNF216	54476	genome.wustl.edu	37	7	5779184	5779184	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:5779184G>C	ENST00000425013.2	-	5	1098				RNF216_ENST00000389902.3_Intron	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		gaaaggtcttgagagatctgg	0.403																																																	0																																										SO:0001627	intron_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.874-201C>G	7.37:g.5779184G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	NULL	p.L314	ENST00000425013.2	37	c.942	CCDS34595.1	7																																																																																			RNF216	-	NULL		0.403	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	G	NM_207111		5779184	-1	no_errors	ENST00000389900	ensembl	human	known	70_37	silent	SNP	0.001	C
RNF40	9810	genome.wustl.edu	37	16	30780684	30780684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30780684G>T	ENST00000324685.6	+	16	2860	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	RNF40_ENST00000357890.5_Nonsense_Mutation_p.E709*|RNF40_ENST00000402121.3_Nonsense_Mutation_p.E501*|RNF40_ENST00000563683.1_Nonsense_Mutation_p.E769*|RNF40_ENST00000567365.1_3'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	809					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGAAGGATGAGTTGGGCGA	0.582																																																	0													107.0	111.0	109.0					16																	30780684		2197	4300	6497	SO:0001587	stop_gained	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2425G>T	16.37:g.30780684G>T	ENSP00000325677:p.Glu809*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Nonsense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E809*	ENST00000324685.6	37	c.2425	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.220461	0.98712	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-37.1002	19.1176	0.93348	0.0:0.0:1.0:0.0	.	.	.	.	X	809;709;501;141	.	ENSP00000325677:E809X	E	+	1	0	RNF40	30688185	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.427000	0.73378	2.884000	0.98904	0.655000	0.94253	GAG	RNF40	-	NULL		0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30780684	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RNF40	9810	genome.wustl.edu	37	16	30783259	30783259	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30783259C>G	ENST00000324685.6	+	18	3127	c.2692C>G	c.(2692-2694)Cgt>Ggt	p.R898G	RNF40_ENST00000357890.5_Missense_Mutation_p.R798G|RNF40_ENST00000402121.3_Missense_Mutation_p.R590G|RNF40_ENST00000563683.1_Missense_Mutation_p.R858G|RNF40_ENST00000567365.1_3'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	898					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R898S(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCGGGCTGCTCGTGAGAAAGA	0.662																																																	1	Substitution - Missense(1)	lung(1)											35.0	36.0	35.0					16																	30783259		2197	4296	6493	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2692C>G	16.37:g.30783259C>G	ENSP00000325677:p.Arg898Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R898G	ENST00000324685.6	37	c.2692	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145861	0.57044	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.32753	1.44;1.44;1.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.57536	1.79	0.53005	D	0.999962	B;P;D;P;P	0.63880	0.431;0.585;0.993;0.941;0.881	B;B;P;P;B	0.60886	0.222;0.365;0.88;0.604;0.441	T	0.31806	-0.9930	10	0.48119	T	0.1	-11.7604	12.1806	0.54210	0.273:0.7269:0.0:0.0	.	230;590;798;898;898	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	G	898;798;590;230	ENSP00000325677:R898G;ENSP00000350563:R798G;ENSP00000384942:R590G	ENSP00000325677:R898G	R	+	1	0	RNF40	30690760	1.000000	0.71417	0.859000	0.33776	0.985000	0.73830	3.721000	0.54941	2.718000	0.92993	0.651000	0.88453	CGT	RNF40	-	NULL		0.662	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	C	NM_014771		30783259	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	0.996	G
ROBO1	6091	genome.wustl.edu	37	3	78663894	78663894	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:78663894C>G	ENST00000464233.1	-	28	4452	c.4339G>C	c.(4339-4341)Gac>Cac	p.D1447H	ROBO1_ENST00000467549.1_Missense_Mutation_p.D1347H|ROBO1_ENST00000495273.1_Missense_Mutation_p.D1402H|ROBO1_ENST00000436010.2_Missense_Mutation_p.D1408H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1447					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGTTGCTGTCTGTAGACACG	0.488																																																	0													102.0	101.0	102.0					3																	78663894		1938	4141	6079	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4339G>C	3.37:g.78663894C>G	ENSP00000420321:p.Asp1447His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1447H	ENST00000464233.1	37	c.4339	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692167	0.88735	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.77877	-0.87;-0.92;-0.94;-1.13	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	L	0.32530	0.975	0.80722	D	1	D;D;D;D;B	0.89917	1.0;0.981;1.0;0.963;0.005	D;P;D;P;B	0.87578	0.998;0.592;0.998;0.563;0.007	T	0.80984	-0.1138	9	.	.	.	.	19.327	0.94265	0.0:1.0:0.0:0.0	.	1411;1447;1402;1347;1408	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1408;1402;1447;1402;1347;1451	ENSP00000406043:D1408H;ENSP00000420321:D1447H;ENSP00000420637:D1402H;ENSP00000417992:D1347H	.	D	-	1	0	ROBO1	78746584	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	7.445000	0.80570	2.636000	0.89361	0.585000	0.79938	GAC	ROBO1	-	NULL		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78663894	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G
ROCK1P1	727758	genome.wustl.edu	37	18	112533	112533	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:112533C>G	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		GCCTCCGTTTCTGGGAAAGGG	0.478																																																	0																																												727758					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112533C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-		0.478	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1	C			112533	+1	no_errors	ENST00000576266	ensembl	human	known	70_37	rna	SNP	0.774	G
RP1	6101	genome.wustl.edu	37	8	55537806	55537806	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:55537806G>C	ENST00000220676.1	+	4	1512	c.1364G>C	c.(1363-1365)aGa>aCa	p.R455T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	455					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGGACTAAGAAGAGTGAGA	0.418																																					Colon(91;1014 1389 7634 14542 40420)												0													72.0	73.0	73.0					8																	55537806		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1364G>C	8.37:g.55537806G>C	ENSP00000220676:p.Arg455Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R455T	ENST00000220676.1	37	c.1364	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264051	0.59431	.	.	ENSG00000104237	ENST00000220676	T	0.37235	1.21	5.29	2.52	0.30459	.	0.289804	0.29480	N	0.012040	T	0.42810	0.1219	L	0.32530	0.975	0.37463	D	0.915305	D	0.69078	0.997	P	0.62435	0.902	T	0.44236	-0.9341	10	0.87932	D	0	.	10.6204	0.45476	0.209:0.0:0.791:0.0	.	455	P56715	RP1_HUMAN	T	455	ENSP00000220676:R455T	ENSP00000220676:R455T	R	+	2	0	RP1	55700359	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.131000	0.42074	0.233000	0.21120	0.655000	0.94253	AGA	RP1	-	NULL		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55537806	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.998	C
RP1	6101	genome.wustl.edu	37	8	55541492	55541492	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:55541492G>A	ENST00000220676.1	+	4	5198	c.5050G>A	c.(5050-5052)Gaa>Aaa	p.E1684K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1684					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGCTCTTCTGAACAGGTATC	0.413																																					Colon(91;1014 1389 7634 14542 40420)												0													159.0	161.0	160.0					8																	55541492		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5050G>A	8.37:g.55541492G>A	ENSP00000220676:p.Glu1684Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1684K	ENST00000220676.1	37	c.5050	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036358	0.35893	.	.	ENSG00000104237	ENST00000220676	T	0.23754	1.89	5.44	3.46	0.39613	.	0.681464	0.12527	N	0.461165	T	0.27663	0.0680	L	0.59436	1.845	0.09310	N	1	P	0.38922	0.651	B	0.33392	0.163	T	0.16897	-1.0387	10	0.87932	D	0	-1.1512	15.6702	0.77267	0.0:0.2773:0.7227:0.0	.	1684	P56715	RP1_HUMAN	K	1684	ENSP00000220676:E1684K	ENSP00000220676:E1684K	E	+	1	0	RP1	55704045	0.009000	0.17119	0.172000	0.22920	0.959000	0.62525	1.653000	0.37323	1.223000	0.43536	0.655000	0.94253	GAA	RP1	-	NULL		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55541492	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.049	A
RPA1	6117	genome.wustl.edu	37	17	1756397	1756397	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1756397G>C	ENST00000254719.5	+	5	385	c.275G>C	c.(274-276)aGa>aCa	p.R92T		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	92					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTTGCAGGAGAGTAGTTATC	0.378								Nucleotide excision repair (NER)																																									0													133.0	131.0	132.0					17																	1756397		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.275G>C	17.37:g.1756397G>C	ENSP00000254719:p.Arg92Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1	p.R92T	ENST00000254719.5	37	c.275	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480914	0.63849	.	.	ENSG00000132383	ENST00000254719	T	0.48201	0.82	5.89	1.2	0.21068	Replication factor-A protein 1, N-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.195154	0.53938	D	0.000052	T	0.46092	0.1375	M	0.78637	2.42	0.52501	D	0.999959	B	0.28998	0.23	B	0.31495	0.131	T	0.42632	-0.9440	10	0.49607	T	0.09	-13.3718	8.2701	0.31838	0.4331:0.0:0.5669:0.0	.	92	P27694	RFA1_HUMAN	T	92	ENSP00000254719:R92T	ENSP00000254719:R92T	R	+	2	0	RPA1	1703147	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.663000	0.25053	0.390000	0.25115	0.585000	0.79938	AGA	RPA1	-	pfam_Rep_factor-A_N,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1		0.378	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	G	NM_002945		1756397	+1	no_errors	ENST00000254719	ensembl	human	known	70_37	missense	SNP	1.000	C
RPAP1	26015	genome.wustl.edu	37	15	41815045	41815045	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:41815045G>C	ENST00000304330.4	-	19	2776	c.2660C>G	c.(2659-2661)tCa>tGa	p.S887*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.S887*	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	887	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S887L(1)		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)		GGGTGAGGCTGAGCCAGCCAG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											64.0	55.0	58.0					15																	41815045		2202	4300	6502	SO:0001587	stop_gained	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.2660C>G	15.37:g.41815045G>C	ENSP00000306123:p.Ser887*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Nonsense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S887*	ENST00000304330.4	37	c.2660	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.722600	0.98929	.	.	ENSG00000103932	ENST00000304330	.	.	.	5.27	5.27	0.74061	.	0.208913	0.42964	D	0.000623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.7813	19.0978	0.93260	0.0:0.0:1.0:0.0	.	.	.	.	X	887	.	ENSP00000306123:S887X	S	-	2	0	RPAP1	39602337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.201000	0.77847	2.735000	0.93741	0.655000	0.94253	TCA	RPAP1	-	NULL		0.637	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41815045	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	nonsense	SNP	1.000	C
RPL10A	4736	genome.wustl.edu	37	6	35436280	35436280	+	Intron	SNP	C	C	G	rs528529879	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:35436280C>G	ENST00000322203.6	+	1	32				RPL10A_ENST00000467020.1_Intron	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a						anatomical structure morphogenesis (GO:0009653)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GCCGAGGGTTCGGATCCTGTA	0.667											OREG0017378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52.0	54.0	54.0					6																	35436280		692	1591	2283	SO:0001627	intron_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.5+64C>G	6.37:g.35436280C>G		Somatic	855	WXS	Illumina HiSeq	Phase_IV	B2R801|P52859|P53025|Q5TZT6|Q8J013	RNA	SNP	-	NULL	ENST00000322203.6	37	NULL	CCDS4806.1	6																																																																																			RPL10A	-	-		0.667	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10A	HGNC	protein_coding	OTTHUMT00000040283.1	C	NM_007104		35436280	+1	no_errors	ENST00000464112	ensembl	human	known	70_37	rna	SNP	0.000	G
RPL11	6135	genome.wustl.edu	37	1	24022845	24022845	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:24022845C>T	ENST00000374550.3	+	6	564	c.519C>T	c.(517-519)atC>atT	p.I173I	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	173					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)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I173I(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		ATGATGGGATCATCCTTCCTG	0.373																																																	1	Substitution - coding silent(1)	large_intestine(1)											91.0	89.0	90.0					1																	24022845		2203	4300	6503	SO:0001819	synonymous_variant	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.519C>T	1.37:g.24022845C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P25121|P39026|Q8TDH2|Q9Y674	Silent	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.I173	ENST00000374550.3	37	c.519	CCDS238.1	1																																																																																			RPL11	-	superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5		0.373	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	C	NM_000975		24022845	+1	no_errors	ENST00000374550	ensembl	human	known	70_37	silent	SNP	1.000	T
RPL28	6158	genome.wustl.edu	37	19	55899502	55899502	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55899502G>A	ENST00000344063.2	+	4	953				RPL28_ENST00000560055.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000560583.1_Nonsense_Mutation_p.W137*|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron			P46779	RL28_HUMAN	ribosomal protein L28						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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AATATGGGCTGGAGAGGGATG	0.622																																																	0													92.0	89.0	90.0					19																	55899502		692	1591	2283	SO:0001627	intron_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.324+86G>A	19.37:g.55899502G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Nonsense_Mutation	SNP	NULL	p.W137*	ENST00000344063.2	37	c.410	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355275	0.24512	.	.	ENSG00000108107	ENST00000426763	.	.	.	3.16	-3.67	0.04476	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6716	0.62430	0.0:0.3979:0.6021:0.0	.	.	.	.	X	137	.	.	W	+	2	0	RPL28	60591314	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.180000	0.16860	-0.255000	0.09486	0.462000	0.41574	TGG	RPL28	-	NULL		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55899502	+1	no_errors	ENST00000560583	ensembl	human	known	70_37	nonsense	SNP	0.000	A
RPL28	6158	genome.wustl.edu	37	19	55899505	55899505	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55899505G>A	ENST00000344063.2	+	4	953				RPL28_ENST00000560055.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.R138K|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron			P46779	RL28_HUMAN	ribosomal protein L28						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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		ATGGGCTGGAGAGGGATGGAT	0.622																																																	0													93.0	89.0	91.0					19																	55899505		692	1591	2283	SO:0001627	intron_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.324+89G>A	19.37:g.55899505G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	NULL	p.R138K	ENST00000344063.2	37	c.413	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705337	0.30232	.	.	ENSG00000108107	ENST00000426763	.	.	.	3.16	-0.71	0.11234	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.23119	-1.0197	6	.	.	.	.	4.7824	0.13208	0.233:0.1788:0.5882:0.0	.	138	B4DEP9	.	K	138	.	.	R	+	2	0	RPL28	60591317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.009000	0.01455	-0.176000	0.10707	-0.448000	0.05591	AGA	RPL28	-	NULL		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55899505	+1	no_errors	ENST00000560583	ensembl	human	known	70_37	missense	SNP	0.000	A
RPL28	6158	genome.wustl.edu	37	19	55899664	55899664	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55899664G>A	ENST00000344063.2	+	5	1007	c.378G>A	c.(376-378)gtG>gtA	p.V126V	RPL28_ENST00000560055.1_Intron|RPL28_ENST00000559463.1_Silent_p.V126V|RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron			P46779	RL28_HUMAN	ribosomal protein L28	126					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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CTGTGATGGTGAAGAGGAAGC	0.652																																																	0													19.0	23.0	21.0					19																	55899664		2192	4294	6486	SO:0001819	synonymous_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.378G>A	19.37:g.55899664G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Silent	SNP	NULL	p.V126	ENST00000344063.2	37	c.378	CCDS12924.1	19																																																																																			RPL28	-	NULL		0.652	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55899664	+1	no_errors	ENST00000344063	ensembl	human	known	70_37	silent	SNP	1.000	A
RPLP0	6175	genome.wustl.edu	37	12	120634585	120634585	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120634585G>C	ENST00000551150.1	-	7	1260	c.945C>G	c.(943-945)ctC>ctG	p.L315L	RPLP0_ENST00000228306.4_Silent_p.L315L|RPLP0_ENST00000552292.1_Silent_p.L105L|RPLP0_ENST00000313104.5_Silent_p.L253L|RPLP0_ENST00000392514.4_Silent_p.L315L|RPLP0_ENST00000546989.1_Silent_p.L279L|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000550296.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	315					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTAGTCAAAGAGACCAAATC	0.453																																																	0													34.0	38.0	36.0					12																	120634585		2201	4296	6497	SO:0001819	synonymous_variant	6175			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.945C>G	12.37:g.120634585G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7A4|Q9BVK4	Silent	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.L315	ENST00000551150.1	37	c.945	CCDS9193.1	12																																																																																			RPLP0	-	pfam_Ribosomal_60S		0.453	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	G	NM_053275		120634585	-1	no_errors	ENST00000228306	ensembl	human	known	70_37	silent	SNP	0.995	C
RPRD2	23248	genome.wustl.edu	37	1	150429953	150429953	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:150429953G>A	ENST00000369068.4	+	8	1064	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	RPRD2_ENST00000539519.1_Missense_Mutation_p.E328K|RPRD2_ENST00000401000.4_Missense_Mutation_p.E328K|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	354						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATGGAGAGTGAGAAATCTGC	0.498																																																	0													199.0	190.0	193.0					1																	150429953		1938	4155	6093	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1060G>A	1.37:g.150429953G>A	ENSP00000358064:p.Glu354Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.E354K	ENST00000369068.4	37	c.1060	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010804	0.54361	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.43294	0.95;0.96;0.95	5.2	5.2	0.72013	.	0.393039	0.29908	N	0.010899	T	0.11965	0.0291	N	0.22421	0.69	0.22226	N	0.99928	B;B;B	0.15473	0.001;0.002;0.013	B;B;B	0.19391	0.001;0.001;0.025	T	0.07712	-1.0758	10	0.16420	T	0.52	-5.6263	9.4209	0.38550	0.0784:0.1566:0.765:0.0	.	328;354;328	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	K	328;328;354	ENSP00000383785:E328K;ENSP00000445482:E328K;ENSP00000358064:E354K	ENSP00000358064:E354K	E	+	1	0	RPRD2	148696577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.935000	0.48963	2.854000	0.98071	0.655000	0.94253	GAG	RPRD2	-	NULL		0.498	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	G	NM_015203		150429953	+1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	A
RPS19	6223	genome.wustl.edu	37	19	42364871	42364871	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42364871G>C	ENST00000598742.1	+	2	399	c.27G>C	c.(25-27)gtG>gtC	p.V9V	RPS19_ENST00000593863.1_Silent_p.V9V|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	9			Missing (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						TAAAAGACGTGAACCAGCAGG	0.557									Diamond-Blackfan Anemia																																								0			GRCh37	CD045255	RPS19	D							142.0	142.0	142.0					19																	42364871		2203	4300	6503	SO:0001819	synonymous_variant	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.27G>C	19.37:g.42364871G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ribosomal_S19e	p.V9	ENST00000598742.1	37	c.27	CCDS12588.1	19																																																																																			RPS19	-	pfam_Ribosomal_S19e		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	G	NM_001022		42364871	+1	no_errors	ENST00000593863	ensembl	human	known	70_37	silent	SNP	0.998	C
RPS29	6235	genome.wustl.edu	37	14	50050372	50050372	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:50050372G>C	ENST00000245458.6	-	0	213				RPS29_ENST00000396020.3_Intron|RN7SL1_ENST00000553637.1_RNA|RPS29_ENST00000557111.1_5'UTR	NM_001032.3	NP_001023.1	P62273	RS29_HUMAN	ribosomal protein S29						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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					ATAATCCTCTGAAGGAAGAGC	0.294																																																	0													39.0	42.0	41.0					14																	50050372		2200	4295	6495	SO:0001624	3_prime_UTR_variant	6235			L31610	CCDS9685.1, CCDS32072.1	14q21.3	2011-04-06			ENSG00000213741	ENSG00000213741		"""S ribosomal proteins"""	10419	protein-coding gene	gene with protein product		603633				8781548, 7772601	Standard	NM_001032		Approved	S29	uc001wwl.4	P62273	OTTHUMG00000140272	ENST00000245458.6:c.*13C>G	14.37:g.50050372G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZ73|P30054	RNA	SNP	-	NULL	ENST00000245458.6	37	NULL	CCDS9685.1	14																																																																																			RPS29	-	-		0.294	RPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS29	HGNC	protein_coding	OTTHUMT00000276809.1	G	NM_001030001		50050372	-1	no_errors	ENST00000557111	ensembl	human	putative	70_37	rna	SNP	0.043	C
RPS6KA2	6196	genome.wustl.edu	37	6	166873007	166873007	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:166873007G>C	ENST00000265678.4	-	12	1228	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.F343L|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.F246L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.F246L|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.F360L|RPS6KA2-IT1_ENST00000416770.1_RNA	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	335	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTGCTGGTTTGAACGGTGGCT	0.562																																																	0													188.0	140.0	156.0					6																	166873007		2203	4300	6503	SO:0001583	missense	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1005C>G	6.37:g.166873007G>C	ENSP00000265678:p.Phe335Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F360L	ENST00000265678.4	37	c.1080	CCDS5294.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447887	0.63178	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.0	2.85	0.33270	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.93678	3.445	0.80722	D	1	D;P;D	0.56746	0.975;0.934;0.977	P;P;P	0.61658	0.762;0.522;0.892	T	0.73282	-0.4032	10	0.72032	D	0.01	.	8.968	0.35887	0.2703:0.0:0.7297:0.0	.	360;343;335	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	L	335;360;343;246;246	ENSP00000265678:F335L;ENSP00000422435:F360L;ENSP00000427015:F343L;ENSP00000422484:F246L;ENSP00000386050:F246L	ENSP00000265678:F335L	F	-	3	2	RPS6KA2	166792997	1.000000	0.71417	0.971000	0.41717	0.539000	0.34962	1.248000	0.32827	1.109000	0.41680	0.563000	0.77884	TTC	RPS6KA2	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II		0.562	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166873007	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	missense	SNP	1.000	C
RPS6KA6	27330	genome.wustl.edu	37	X	83351282	83351282	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:83351282C>G	ENST00000262752.2	-	20	1898	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E631Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	631	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTATCTCTTCAGGAGTATCA	0.358																																																	0													75.0	63.0	67.0					X																	83351282		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1891G>C	X.37:g.83351282C>G	ENSP00000262752:p.Glu631Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E631Q	ENST00000262752.2	37	c.1891	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911776	0.52439	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.65178	-0.14;-0.14	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100528	0.64402	D	0.000003	T	0.46112	0.1376	N	0.12746	0.255	0.80722	D	1	B;B	0.33512	0.24;0.415	B;B	0.31495	0.082;0.131	T	0.49184	-0.8966	10	0.41790	T	0.15	.	17.6401	0.88133	0.0:1.0:0.0:0.0	.	631;631	B7ZL90;Q9UK32	.;KS6A6_HUMAN	Q	631	ENSP00000262752:E631Q;ENSP00000440830:E631Q	ENSP00000262752:E631Q	E	-	1	0	RPS6KA6	83237938	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.826000	0.69293	2.182000	0.69389	0.544000	0.68410	GAA	RPS6KA6	-	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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83351282	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS7	6201	genome.wustl.edu	37	2	3623257	3623257	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:3623257G>C	ENST00000304921.5	+	2	222	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	RPS7_ENST00000403564.1_Missense_Mutation_p.E20Q|RPS7_ENST00000406376.1_Missense_Mutation_p.E20Q|RPS7_ENST00000407445.3_Missense_Mutation_p.E20Q	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	20					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GGACGAGTTCGAGTCCGGCAT	0.672																																																	0													28.0	33.0	31.0					2																	3623257		2202	4298	6500	SO:0001583	missense	6201				CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.58G>C	2.37:g.3623257G>C	ENSP00000339095:p.Glu20Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	pfam_Ribosomal_S7e	p.E20Q	ENST00000304921.5	37	c.58	CCDS1648.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513757	0.85389	.	.	ENSG00000171863	ENST00000304921;ENST00000407445;ENST00000403564;ENST00000406376	.	.	.	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	H	0.96111	3.77	0.80722	D	1	D;D	0.64830	0.994;0.96	P;P	0.62382	0.901;0.896	D	0.90772	0.4673	9	0.87932	D	0	-2.792	15.0609	0.71951	0.0:0.0:1.0:0.0	.	20;20	B5MCP9;P62081	.;RS7_HUMAN	Q	20	.	ENSP00000339095:E20Q	E	+	1	0	RPS7	3601132	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.325000	0.79124	2.071000	0.62044	0.467000	0.42956	GAG	RPS7	-	pfam_Ribosomal_S7e		0.672	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS7	HGNC	protein_coding	OTTHUMT00000206667.1	G	NM_001011		3623257	+1	no_errors	ENST00000304921	ensembl	human	known	70_37	missense	SNP	1.000	C
RPS9	6203	genome.wustl.edu	37	19	54711421	54711421	+	Missense_Mutation	SNP	G	G	C	rs1065597		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:54711421G>C	ENST00000302907.4	+	5	735	c.563G>C	c.(562-564)gGa>gCa	p.G188A	RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000402367.1_3'UTR|RPS9_ENST00000391753.2_Missense_Mutation_p.G188A|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000391752.1_Missense_Mutation_p.G188A	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	188					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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GCTGGGGCTGGAGACGACGAG	0.592																																																	0													24.0	24.0	24.0					19																	54711421		2202	4300	6502	SO:0001583	missense	6203			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.563G>C	19.37:g.54711421G>C	ENSP00000302896:p.Gly188Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc	p.G188A	ENST00000302907.4	37	c.563	CCDS12884.1	19	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571413	0.28003	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000391753	T;T;T	0.46063	0.88;0.88;0.88	4.86	3.82	0.43975	.	0.049640	0.85682	D	0.000000	T	0.17916	0.0430	N	0.02765	-0.5	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	10	0.20046	T	0.44	-22.9912	10.9712	0.47441	0.0936:0.0:0.9064:0.0	.	188	P46781	RS9_HUMAN	A	188	ENSP00000302896:G188A;ENSP00000375632:G188A;ENSP00000375633:G188A	ENSP00000302896:G188A	G	+	2	0	RPS9	59403233	0.998000	0.40836	0.314000	0.25224	0.842000	0.47809	2.968000	0.49224	2.692000	0.91855	0.655000	0.94253	GGA	RPS9	-	NULL		0.592	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS9	HGNC	protein_coding	OTTHUMT00000142834.3	G	NM_001013		54711421	+1	no_errors	ENST00000302907	ensembl	human	known	70_37	missense	SNP	0.418	C
RPTOR	57521	genome.wustl.edu	37	17	78796986	78796986	+	Missense_Mutation	SNP	A	A	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:78796986A>T	ENST00000306801.3	+	9	1461	c.1099A>T	c.(1099-1101)Agc>Tgc	p.S367C	RPTOR_ENST00000570891.1_Missense_Mutation_p.S367C|RPTOR_ENST00000537330.1_Missense_Mutation_p.S182C|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S367C	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	367					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCCGTCAGCAGCCCGCGTCT	0.552																																																	0													94.0	98.0	96.0					17																	78796986		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1099A>T	17.37:g.78796986A>T	ENSP00000307272:p.Ser367Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.S367C	ENST00000306801.3	37	c.1099	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210308	0.39003	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.46819	0.87;0.86	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.48986	1.54	0.80722	D	1	D;B;P	0.76494	0.999;0.01;0.487	D;B;B	0.79108	0.992;0.007;0.033	T	0.61013	-0.7148	10	0.38643	T	0.18	.	15.3829	0.74673	1.0:0.0:0.0:0.0	.	367;182;367	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	C	182;367;367	ENSP00000307272:S367C;ENSP00000442479:S367C	ENSP00000307272:S367C	S	+	1	0	RPTOR	76411581	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	8.877000	0.92386	2.034000	0.60081	0.528000	0.53228	AGC	RPTOR	-	NULL		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	A	NM_020761		78796986	+1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	1.000	T
RRAS	6237	genome.wustl.edu	37	19	50139083	50139083	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50139083G>A	ENST00000246792.3	-	5	582	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	160					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGGAGGCGCCGAAGGCAGAGG	0.657																																																	0													25.0	27.0	27.0					19																	50139083		2203	4299	6502	SO:0001819	synonymous_variant	6237				CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.480C>T	19.37:g.50139083G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FH12	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F160	ENST00000246792.3	37	c.480	CCDS12774.1	19																																																																																			RRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.657	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAS	HGNC	protein_coding	OTTHUMT00000465791.1	G	NM_006270		50139083	-1	no_errors	ENST00000246792	ensembl	human	known	70_37	silent	SNP	0.006	A
RREB1	6239	genome.wustl.edu	37	6	7229752	7229752	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:7229752C>T	ENST00000349384.6	+	10	1734	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	RREB1_ENST00000379933.3_Silent_p.L474L|RREB1_ENST00000334984.6_Silent_p.L474L|RREB1_ENST00000379938.2_Silent_p.L474L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	474					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGCAAATTCTGAAGATGGC	0.607																																																	0													88.0	100.0	96.0					6																	7229752		2203	4300	6503	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1420C>T	6.37:g.7229752C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L474	ENST00000349384.6	37	c.1420	CCDS34336.1	6																																																																																			RREB1	-	NULL		0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	C			7229752	+1	no_errors	ENST00000379938	ensembl	human	known	70_37	silent	SNP	1.000	T
RRP1B	23076	genome.wustl.edu	37	21	45094547	45094547	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45094547G>A	ENST00000340648.4	+	5	505	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	130					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGTCCTTTGAAGTCTTGAA	0.333																																																	0													97.0	91.0	93.0					21																	45094547		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.388G>A	21.37:g.45094547G>A	ENSP00000339145:p.Glu130Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.E130K	ENST00000340648.4	37	c.388	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052439	0.75960	.	.	ENSG00000160208	ENST00000340648	T	0.40225	1.04	5.83	4.94	0.65067	.	0.095004	0.64402	D	0.000001	T	0.48466	0.1501	N	0.20445	0.575	0.52501	D	0.999958	D	0.89917	1.0	D	0.87578	0.998	T	0.53711	-0.8400	10	0.87932	D	0	-5.7269	12.0754	0.53641	0.0807:0.0:0.9193:0.0	.	130	Q14684	RRP1B_HUMAN	K	130	ENSP00000339145:E130K	ENSP00000339145:E130K	E	+	1	0	RRP1B	43918975	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.892000	0.69790	1.466000	0.48025	0.650000	0.86243	GAA	RRP1B	-	pfam_Nop52		0.333	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45094547	+1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	1.000	A
RRP1B	23076	genome.wustl.edu	37	21	45094945	45094945	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45094945G>C	ENST00000340648.4	+	6	567	c.450G>C	c.(448-450)atG>atC	p.M150I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	150					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ATGTCCTGATGAAGGAGGTCC	0.468																																																	0													221.0	191.0	201.0					21																	45094945		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.450G>C	21.37:g.45094945G>C	ENSP00000339145:p.Met150Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.M150I	ENST00000340648.4	37	c.450	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934911	0.73442	.	.	ENSG00000160208	ENST00000340648	T	0.43688	0.94	5.68	3.88	0.44766	.	0.437092	0.29956	N	0.010774	T	0.46580	0.1400	M	0.65975	2.015	0.35408	D	0.792208	P	0.48162	0.906	P	0.47251	0.542	T	0.60845	-0.7182	10	0.87932	D	0	-7.0935	9.5886	0.39532	0.1638:0.0:0.8362:0.0	.	150	Q14684	RRP1B_HUMAN	I	150	ENSP00000339145:M150I	ENSP00000339145:M150I	M	+	3	0	RRP1B	43919373	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.980000	0.49321	0.764000	0.33197	0.655000	0.94253	ATG	RRP1B	-	pfam_Nop52		0.468	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45094945	+1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	1.000	C
RSG1	79363	genome.wustl.edu	37	1	16558761	16558761	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16558761C>T	ENST00000375599.3	-	5	978	c.559G>A	c.(559-561)Gag>Aag	p.E187K	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	187	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGGTCCCGCTCGGGCACGTCC	0.672																																																	0													17.0	23.0	21.0					1																	16558761		2197	4296	6493	SO:0001583	missense	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.559G>A	1.37:g.16558761C>T	ENSP00000364749:p.Glu187Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.E187K	ENST00000375599.3	37	c.559	CCDS171.1	1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262704	0.59431	.	.	ENSG00000132881	ENST00000375599	T	0.74737	-0.87	5.47	5.47	0.80525	.	0.052274	0.85682	D	0.000000	T	0.59838	0.2223	L	0.34521	1.04	0.58432	D	0.999997	P	0.46621	0.881	B	0.35413	0.202	T	0.60806	-0.7190	10	0.11485	T	0.65	-31.7124	16.8326	0.85948	0.0:1.0:0.0:0.0	.	187	Q9BU20	RSG1_HUMAN	K	187	ENSP00000364749:E187K	ENSP00000364749:E187K	E	-	1	0	RSG1	16431348	1.000000	0.71417	0.803000	0.32268	0.039000	0.13416	5.375000	0.66173	2.553000	0.86117	0.655000	0.94253	GAG	RSG1	-	pfam_Small_GTPase		0.672	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	C	NM_030907		16558761	-1	no_errors	ENST00000375599	ensembl	human	known	70_37	missense	SNP	0.999	T
RSBN1	54665	genome.wustl.edu	37	1	114340197	114340197	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:114340197C>G	ENST00000261441.5	-	2	1228	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	389						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAATCTCTCCATCTCCATT	0.403																																																	0													39.0	37.0	38.0					1																	114340197		2203	4300	6503	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1165G>C	1.37:g.114340197C>G	ENSP00000261441:p.Glu389Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.E389Q	ENST00000261441.5	37	c.1165	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699444	0.68501	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.70146	-0.4952	9	0.51188	T	0.08	-13.5836	20.1346	0.98019	0.0:1.0:0.0:0.0	.	389	Q5VWQ0	RSBN1_HUMAN	Q	389	.	ENSP00000261441:E389Q	E	-	1	0	RSBN1	114141720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.982000	0.56909	2.765000	0.95021	0.655000	0.94253	GAG	RSBN1	-	NULL		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	C	NM_018364		114340197	-1	no_errors	ENST00000261441	ensembl	human	known	70_37	missense	SNP	1.000	G
RSPH1	89765	genome.wustl.edu	37	21	43912934	43912934	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:43912934C>G	ENST00000291536.3	-	3	375	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	RSPH1_ENST00000398352.3_Missense_Mutation_p.E32Q	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	70					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTAACATATTCTCCGATATAT	0.328																																					Esophageal Squamous(23;63 706 6286 10288 12913)												0													153.0	155.0	154.0					21																	43912934		2203	4300	6503	SO:0001583	missense	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.208G>C	21.37:g.43912934C>G	ENSP00000291536:p.Glu70Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E70Q	ENST00000291536.3	37	c.208	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493264	0.26774	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.59224	0.28;0.28	4.65	3.74	0.42951	.	0.248355	0.46145	N	0.000310	T	0.40670	0.1126	N	0.21324	0.655	0.30600	N	0.760661	B	0.24768	0.111	B	0.26094	0.066	T	0.37244	-0.9714	10	0.23302	T	0.38	.	10.2046	0.43105	0.0:0.7862:0.137:0.0769	.	70	Q8WYR4	RSPH1_HUMAN	Q	70;32	ENSP00000291536:E70Q;ENSP00000381395:E32Q	ENSP00000291536:E70Q	E	-	1	0	RSPH1	42786003	0.988000	0.35896	0.954000	0.39281	0.824000	0.46624	0.575000	0.23729	1.043000	0.40175	0.462000	0.41574	GAA	RSPH1	-	pfam_MORN,smart_MORN		0.328	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	C			43912934	-1	no_errors	ENST00000291536	ensembl	human	known	70_37	missense	SNP	0.999	G
RTF1	23168	genome.wustl.edu	37	15	41766883	41766883	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:41766883C>G	ENST00000389629.4	+	9	1281	c.1269C>G	c.(1267-1269)aaC>aaG	p.N423K		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	423	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCAGAACAAACAAAGGGCTGC	0.517																																																	0													161.0	158.0	159.0					15																	41766883		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1269C>G	15.37:g.41766883C>G	ENSP00000374280:p.Asn423Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.N423K	ENST00000389629.4	37	c.1269	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893959	0.72639	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.6	3.7	0.42460	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.62088	1.915	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.68965	-0.5270	9	0.56958	D	0.05	-24.7168	9.6222	0.39727	0.0:0.7223:0.0:0.2777	.	423	Q92541	RTF1_HUMAN	K	423	.	ENSP00000374280:N423K	N	+	3	2	RTF1	39554175	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.571000	0.36450	0.706000	0.31912	0.655000	0.94253	AAC	RTF1	-	pfam_Plus-3,smart_Plus3-dom_subgr		0.517	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	C	NM_015138		41766883	+1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	1.000	G
RTKN2	219790	genome.wustl.edu	37	10	64028352	64028352	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:64028352C>T	ENST00000373789.3	-	1	114	c.18G>A	c.(16-18)ctG>ctA	p.L6L	RTKN2_ENST00000395265.1_Silent_p.L6L|RTKN2_ENST00000395260.3_Silent_p.L6L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	6					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CAGGACCCCTCAGGCTCGGCC	0.682																																																	0													10.0	12.0	11.0					10																	64028352		2164	4216	6380	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.18G>A	10.37:g.64028352C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L6	ENST00000373789.3	37	c.18	CCDS7263.1	10																																																																																			RTKN2	-	NULL		0.682	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	C	NM_145307		64028352	-1	no_errors	ENST00000373789	ensembl	human	known	70_37	silent	SNP	0.000	T
RTN3	10313	genome.wustl.edu	37	11	63488456	63488456	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:63488456G>A	ENST00000377819.5	+	3	2636	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	RTN3_ENST00000339997.4_Missense_Mutation_p.E809K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E716K|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	828					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TAGCAAGACTGAATTGGTAAA	0.393																																																	0													77.0	80.0	79.0					11																	63488456		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2482G>A	11.37:g.63488456G>A	ENSP00000367050:p.Glu828Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E828K	ENST00000377819.5	37	c.2482	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601501	0.87055	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.27720	1.65;1.66;1.68	5.52	5.52	0.82312	.	0.760640	0.12103	N	0.499356	T	0.36744	0.0978	L	0.32530	0.975	0.80722	D	1	D;D;D	0.58268	0.971;0.982;0.971	P;P;P	0.53224	0.721;0.53;0.721	T	0.01202	-1.1420	10	0.23302	T	0.38	-8.6002	15.295	0.73898	0.0:0.0:1.0:0.0	.	716;828;809	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	K	828;809;716	ENSP00000367050:E828K;ENSP00000344106:E809K;ENSP00000442733:E716K	ENSP00000344106:E809K	E	+	1	0	RTN3	63245032	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	3.358000	0.52284	2.748000	0.94277	0.655000	0.94253	GAA	RTN3	-	NULL		0.393	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	G	NM_006054		63488456	+1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	1.000	A
RTP2	344892	genome.wustl.edu	37	3	187416340	187416340	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:187416340G>A	ENST00000358241.1	-	2	1052	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	208					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)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CGAGCAGGCAGAGAGAGGCCC	0.582																																																	0													82.0	86.0	84.0					3																	187416340		2203	4300	6503	SO:0001819	synonymous_variant	344892			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.624C>T	3.37:g.187416340G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NVH4	Silent	SNP	NULL	p.L208	ENST00000358241.1	37	c.624	CCDS33911.1	3																																																																																			RTP2	-	NULL		0.582	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	G	NM_001004312		187416340	-1	no_errors	ENST00000358241	ensembl	human	known	70_37	silent	SNP	0.926	A
RTTN	25914	genome.wustl.edu	37	18	67833312	67833312	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:67833312G>C	ENST00000255674.6	-	14	2201	c.1915C>G	c.(1915-1917)Ctg>Gtg	p.L639V	RTTN_ENST00000437017.1_Missense_Mutation_p.L639V|RTTN_ENST00000454359.1_Missense_Mutation_p.L639V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	639					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTGATTTCCAGACAGCAGTGG	0.398																																																	0													69.0	67.0	68.0					18																	67833312		1908	4125	6033	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1915C>G	18.37:g.67833312G>C	ENSP00000255674:p.Leu639Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L639V	ENST00000255674.6	37	c.1915	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381019	0.42207	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64618	3.6;-0.11;-0.11	5.42	4.55	0.56014	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.75280	0.3828	M	0.71581	2.175	0.45261	D	0.998267	D	0.89917	1.0	D	0.91635	0.999	T	0.76383	-0.2979	10	0.62326	D	0.03	.	9.3962	0.38404	0.2228:0.0:0.7772:0.0	.	639	Q86VV8	RTTN_HUMAN	V	639	ENSP00000255674:L639V;ENSP00000402352:L639V;ENSP00000399520:L639V	ENSP00000255674:L639V	L	-	1	2	RTTN	65984292	1.000000	0.71417	0.999000	0.59377	0.375000	0.29983	3.016000	0.49607	1.275000	0.44379	0.585000	0.79938	CTG	RTTN	-	superfamily_ARM-type_fold		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67833312	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	0.995	C
RUVBL1	8607	genome.wustl.edu	37	3	127816255	127816255	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:127816255C>T	ENST00000322623.5	-	8	1003	c.904G>A	c.(904-906)Gat>Aat	p.D302N	RUVBL1_ENST00000417360.1_Missense_Mutation_p.D302N|RUVBL1_ENST00000464873.1_Missense_Mutation_p.D242N	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	302					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TGGACCTCATCAACAAACAGC	0.527																																																	0													181.0	147.0	158.0					3																	127816255		2203	4300	6503	SO:0001583	missense	8607			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.904G>A	3.37:g.127816255C>T	ENSP00000318297:p.Asp302Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	p.D302N	ENST00000322623.5	37	c.904	CCDS3047.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982795	0.93044	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	T;T;T	0.77877	-0.67;-1.13;-0.28	5.57	4.69	0.59074	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	M	0.93507	3.425	0.80722	D	1	P;P;P;B	0.48162	0.761;0.906;0.799;0.281	P;P;P;B	0.61397	0.75;0.888;0.682;0.435	D	0.92631	0.6116	10	0.87932	D	0	-8.8975	15.6803	0.77364	0.1382:0.8618:0.0:0.0	.	302;302;242;242	Q9Y265-2;Q9Y265;E7ETR0;B3KRS7	.;RUVB1_HUMAN;.;.	N	242;302;302;101	ENSP00000420738:D242N;ENSP00000318297:D302N;ENSP00000393755:D302N	ENSP00000318297:D302N	D	-	1	0	RUVBL1	129298945	1.000000	0.71417	0.279000	0.24732	0.997000	0.91878	7.277000	0.78572	1.315000	0.45114	0.491000	0.48974	GAT	RUVBL1	-	pfam_TIP49_C,smart_AAA+_ATPase		0.527	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2	C			127816255	-1	no_errors	ENST00000322623	ensembl	human	known	70_37	missense	SNP	1.000	T
RYR1	6261	genome.wustl.edu	37	19	39056336	39056336	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39056336C>T	ENST00000359596.3	+	91	13362	c.13362C>T	c.(13360-13362)ctC>ctT	p.L4454L	RYR1_ENST00000360985.3_Silent_p.L4449L|RYR1_ENST00000355481.4_Silent_p.L4449L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4454					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGCGGTCTCGGGGACATGG	0.726																																																	0													2.0	2.0	2.0					19																	39056336		1346	2829	4175	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13362C>T	19.37:g.39056336C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4454	ENST00000359596.3	37	c.13362	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ryanrecept_TM4-6		0.726	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39056336	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.999	T
RYR1	6261	genome.wustl.edu	37	19	39063865	39063865	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39063865G>C	ENST00000359596.3	+	96	14047	c.14047G>C	c.(14047-14049)Gag>Cag	p.E4683Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E4678Q|RYR1_ENST00000355481.4_Missense_Mutation_p.E4678Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4683					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCGGAAGCTGGAGTTTGATGG	0.617																																																	0													106.0	91.0	96.0					19																	39063865		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14047G>C	19.37:g.39063865G>C	ENSP00000352608:p.Glu4683Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E4683Q	ENST00000359596.3	37	c.14047	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883329	0.51908	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97553	-4.43;-4.42;-4.42	4.52	4.52	0.55395	.	0.000000	0.64402	U	0.000002	D	0.98394	0.9466	M	0.83774	2.66	0.54753	D	0.999989	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	D	0.99457	1.0942	10	0.72032	D	0.01	.	17.0169	0.86422	0.0:0.0:1.0:0.0	.	4678;4683	P21817-2;P21817	.;RYR1_HUMAN	Q	4683;4678;4678	ENSP00000352608:E4683Q;ENSP00000347667:E4678Q;ENSP00000354254:E4678Q	ENSP00000347667:E4678Q	E	+	1	0	RYR1	43755705	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.456000	0.97628	2.356000	0.79943	0.462000	0.41574	GAG	RYR1	-	NULL		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			39063865	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237433906	237433906	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:237433906C>T	ENST00000366574.2	+	2	475	c.158C>T	c.(157-159)tCc>tTc	p.S53F	RYR2_ENST00000360064.6_Missense_Mutation_p.P51S|RYR2_ENST00000542537.1_Missense_Mutation_p.S37F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	53					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCCACTTCCAATTCCAAG	0.423																																																	0													86.0	79.0	81.0					1																	237433906		1879	4108	5987	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.158C>T	1.37:g.237433906C>T	ENSP00000355533:p.Ser53Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.P51S	ENST00000366574.2	37	c.151	CCDS55691.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.491922|2.491922	0.44352|0.44352	.|.	.|.	ENSG00000198626|ENSG00000198626	ENST00000360064|ENST00000366574;ENST00000542537	D|D;D	0.96334|0.98512	-3.98|-4.97;-4.97	4.19|4.19	4.19|4.19	0.49359|0.49359	.|Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.361279|.	0.18994|.	U|.	0.125522|.	D|D	0.98298|0.98298	0.9436|0.9436	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.63597	.|0.916	D|D	0.99671|0.99671	1.0996|1.0996	8|9	0.87932|0.87932	D|D	0|0	.|.	16.7279|16.7279	0.85428|0.85428	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|53	.|Q92736	.|RYR2_HUMAN	S|F	51|53;37	ENSP00000353174:P51S|ENSP00000355533:S53F;ENSP00000443798:S37F	ENSP00000353174:P51S|ENSP00000355533:S53F	P|S	+|+	1|2	0|0	RYR2|RYR2	235500529|235500529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	5.774000|5.774000	0.68906|0.68906	2.158000|2.158000	0.67659|0.67659	0.453000|0.453000	0.30009|0.30009	CCA|TCC	RYR2	-	pfam_Ins145_P3_rcpt		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237433906	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T
SAP130	79595	genome.wustl.edu	37	2	128767909	128767909	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:128767909G>C	ENST00000259235.3	-	7	1010	c.881C>G	c.(880-882)tCa>tGa	p.S294*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.S294*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.S268*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	294					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTGGTGGCTGAGACAGTTGC	0.468																																																	0													119.0	105.0	110.0					2																	128767909		2203	4300	6503	SO:0001587	stop_gained	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.881C>G	2.37:g.128767909G>C	ENSP00000259235:p.Ser294*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	NULL	p.S294*	ENST00000259235.3	37	c.881	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.785667	0.96937	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	5.56	0.83823	.	0.063677	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-22.5542	19.5311	0.95230	0.0:0.0:1.0:0.0	.	.	.	.	X	294;294;268	.	ENSP00000259234:S268X	S	-	2	0	SAP130	128484379	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	9.260000	0.95568	2.635000	0.89317	0.467000	0.42956	TCA	SAP130	-	NULL		0.468	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128767909	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SART3	9733	genome.wustl.edu	37	12	108919340	108919340	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:108919340G>C	ENST00000228284.3	-	17	2651	c.2417C>G	c.(2416-2418)tCa>tGa	p.S806*	FICD_ENST00000546448.1_Intron|SART3_ENST00000431469.2_Nonsense_Mutation_p.S770*	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	806	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCAGGCCTGAGATGAACAG	0.498									Porokeratosis																																								0													126.0	113.0	118.0					12																	108919340		2203	4300	6503	SO:0001587	stop_gained	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2417C>G	12.37:g.108919340G>C	ENSP00000228284:p.Ser806*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S806*	ENST00000228284.3	37	c.2417	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.556184	0.99204	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000547397	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.2841	18.0194	0.89251	0.0:0.0:1.0:0.0	.	.	.	.	X	806;770;371;45	.	ENSP00000228284:S806X	S	-	2	0	SART3	107443470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.703000	0.92315	0.655000	0.94253	TCA	SART3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.498	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	G			108919340	-1	no_errors	ENST00000228284	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SASH1	23328	genome.wustl.edu	37	6	148761536	148761536	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:148761536G>C	ENST00000367467.3	+	4	854	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	SASH1_ENST00000367469.1_Missense_Mutation_p.E82Q|SASH1_ENST00000470750.1_3'UTR	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	127					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCAGAAGTGGAAAGAAAGTA	0.498																																																	0													107.0	98.0	101.0					6																	148761536		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.379G>C	6.37:g.148761536G>C	ENSP00000356437:p.Glu127Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E127Q	ENST00000367467.3	37	c.379	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847972	0.91277	.	.	ENSG00000111961	ENST00000367469;ENST00000367467;ENST00000392284	T	0.14144	2.53	5.8	5.8	0.92144	.	0.175997	0.50627	D	0.000109	T	0.18173	0.0436	L	0.29908	0.895	0.41700	D	0.989397	D	0.76494	0.999	D	0.63488	0.915	T	0.01121	-1.1445	10	0.72032	D	0.01	-17.8368	18.2511	0.90004	0.0:0.0:1.0:0.0	.	127	O94885	SASH1_HUMAN	Q	82;127;81	ENSP00000356437:E127Q	ENSP00000356437:E127Q	E	+	1	0	SASH1	148803229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.488000	0.73637	2.744000	0.94065	0.655000	0.94253	GAA	SASH1	-	NULL		0.498	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148761536	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	1.000	C
SCAP	22937	genome.wustl.edu	37	3	47465422	47465422	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47465422C>G	ENST00000265565.5	-	9	1563		c.e9+1		SCAP_ENST00000545718.1_Splice_Site|SCAP_ENST00000441517.2_Splice_Site|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone						aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGTTACCTTGGGCGAT	0.557																																					Pancreas(149;978 1908 29304 37806 46700)												0													75.0	62.0	66.0					3																	47465422		2203	4300	6503	SO:0001630	splice_region_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1150+1G>C	3.37:g.47465422C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2E0|Q8WUA1	Splice_Site	SNP	-	e8+1	ENST00000265565.5	37	c.1150+1	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876053	0.91664	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1682	0.89736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAP	47440426	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.412000	0.80091	2.537000	0.85549	0.655000	0.94253	.	SCAP	-	-		0.557	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	C	NM_012235	Intron	47465422	-1	no_errors	ENST00000265565	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SCARF2	91179	genome.wustl.edu	37	22	20784796	20784796	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20784796G>A	ENST00000266214.5	-	6	1226	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	SCARF2_ENST00000405555.3_Silent_p.F374F	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	374	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGCGCACACGAAGGCGCAGT	0.667																																																	0													18.0	15.0	16.0					22																	20784796		2198	4291	6489	SO:0001819	synonymous_variant	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1122C>T	22.37:g.20784796G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.F374	ENST00000266214.5	37	c.1122	CCDS13779.1	22																																																																																			SCARF2	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.667	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	G			20784796	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	silent	SNP	1.000	A
SCLT1	132320	genome.wustl.edu	37	4	129878270	129878270	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:129878270C>G	ENST00000281142.5	-	13	1560	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	353					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGCTTCTCCTCAAGTAGAGCC	0.318																																																	0													94.0	90.0	92.0					4																	129878270		2202	4292	6494	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1057G>C	4.37:g.129878270C>G	ENSP00000281142:p.Glu353Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E353Q	ENST00000281142.5	37	c.1057	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719183	0.30503	.	.	ENSG00000151466	ENST00000281142	T	0.09445	2.98	5.17	3.43	0.39272	.	0.173230	0.49305	N	0.000159	T	0.10423	0.0255	L	0.60455	1.87	0.80722	D	1	B	0.17667	0.023	B	0.15052	0.012	T	0.12785	-1.0534	9	.	.	.	-5.7966	6.3706	0.21479	0.0:0.6827:0.1523:0.165	.	353	Q96NL6	SCLT1_HUMAN	Q	353	ENSP00000281142:E353Q	.	E	-	1	0	SCLT1	130097720	1.000000	0.71417	0.992000	0.48379	0.900000	0.52787	1.631000	0.37092	0.556000	0.29098	0.650000	0.86243	GAG	SCLT1	-	NULL		0.318	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	C	NM_144643		129878270	-1	no_errors	ENST00000281142	ensembl	human	known	70_37	missense	SNP	0.986	G
SCN2A	6326	genome.wustl.edu	37	2	166152517	166152517	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:166152517C>G	ENST00000375437.2	+	2	474	c.184C>G	c.(184-186)Ctt>Gtt	p.L62V	SCN2A_ENST00000375427.2_Missense_Mutation_p.L62V|SCN2A_ENST00000283256.6_Missense_Mutation_p.L62V|SCN2A_ENST00000357398.3_Missense_Mutation_p.L62V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	62					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAAAATCTCTTCCATTTAT	0.443																																																	0													100.0	94.0	96.0					2																	166152517		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.184C>G	2.37:g.166152517C>G	ENSP00000364586:p.Leu62Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L62V	ENST00000375437.2	37	c.184	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975320	0.74360	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98090	-4.42;-4.71;-4.71;-4.71;-4.71	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000027	D	0.98735	0.9575	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.992	D	0.99651	1.0991	10	0.62326	D	0.03	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	62;62	Q99250-2;Q99250	.;SCN2A_HUMAN	V	62	ENSP00000406454:L62V;ENSP00000364586:L62V;ENSP00000349973:L62V;ENSP00000283256:L62V;ENSP00000364576:L62V	ENSP00000283256:L62V	L	+	1	0	SCN2A	165860763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.037000	0.70956	2.559000	0.86315	0.655000	0.94253	CTT	SCN2A	-	NULL		0.443	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166152517	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	G
SCN2A	6326	genome.wustl.edu	37	2	166188012	166188012	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:166188012C>G	ENST00000375437.2	+	14	2612	c.2322C>G	c.(2320-2322)ctC>ctG	p.L774L	SCN2A_ENST00000375427.2_Silent_p.L774L|SCN2A_ENST00000283256.6_Silent_p.L774L|SCN2A_ENST00000357398.3_Silent_p.L774L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	774					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L774L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAATACACTCTTCATGGCTA	0.453																																																	2	Substitution - coding silent(2)	lung(2)											160.0	135.0	143.0					2																	166188012		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2322C>G	2.37:g.166188012C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L774	ENST00000375437.2	37	c.2322	CCDS33314.1	2																																																																																			SCN2A	-	NULL		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166188012	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.966	G
SCN9A	6335	genome.wustl.edu	37	2	167108373	167108373	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:167108373G>C	ENST00000409435.1	-	17	3373	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	SCN9A_ENST00000375387.4_Nonsense_Mutation_p.S1126*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.S1126*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.S1114*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1125					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGCACTCTGAGGAGCTTGA	0.428																																																	0													84.0	78.0	80.0					2																	167108373		1889	4103	5992	SO:0001587	stop_gained	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3374C>G	2.37:g.167108373G>C	ENSP00000386330:p.Ser1125*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S1126*	ENST00000409435.1	37	c.3377	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.877176	0.99613	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.6917	0.96005	0.0:0.0:1.0:0.0	.	.	.	.	X	1114;1126;1126;1125	.	ENSP00000304748:S1126X	S	-	2	0	SCN9A	166816619	1.000000	0.71417	0.986000	0.45419	0.752000	0.42762	9.173000	0.94815	2.751000	0.94390	0.650000	0.86243	TCA	SCN9A	-	pfam_Na_trans_assoc		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	G	NM_002977		167108373	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SCNN1A	6337	genome.wustl.edu	37	12	6472857	6472857	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6472857C>G	ENST00000228916.2	-	3	534	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	SCNN1A_ENST00000358945.3_Missense_Mutation_p.E146Q|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E205Q|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E169Q|SCNN1A_ENST00000396966.2_Missense_Mutation_p.E146Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	146					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCAGCTCCTCTTTAATT	0.632																																																	0													33.0	38.0	37.0					12																	6472857		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.436G>C	12.37:g.6472857C>G	ENSP00000228916:p.Glu146Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E146Q	ENST00000228916.2	37	c.436	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644582	0.29246	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.46	2.55	0.30701	.	0.501511	0.19283	N	0.118118	T	0.46658	0.1404	L	0.34521	1.04	0.21290	N	0.999738	B;B;B	0.25667	0.131;0.02;0.008	B;B;B	0.22152	0.038;0.026;0.012	T	0.26258	-1.0108	10	0.29301	T	0.29	-10.5794	9.0453	0.36343	0.0:0.6186:0.3013:0.0801	.	169;146;205	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	205;146;146;146;169	ENSP00000353292:E205Q;ENSP00000351825:E146Q;ENSP00000228916:E146Q;ENSP00000380166:E146Q;ENSP00000438739:E169Q	ENSP00000228916:E146Q	E	-	1	0	SCNN1A	6343118	0.126000	0.22350	0.319000	0.25293	0.921000	0.55340	0.376000	0.20535	0.222000	0.20900	0.561000	0.74099	GAG	SCNN1A	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.632	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	C			6472857	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	missense	SNP	0.715	G
SCUBE1	80274	genome.wustl.edu	37	22	43627873	43627873	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:43627873C>T	ENST00000360835.4	-	8	979	c.853G>A	c.(853-855)Gag>Aag	p.E285K	Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	285	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACCAGGCACTCGTTGATGTCT	0.637											OREG0026615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68.0	54.0	59.0					22																	43627873		2203	4300	6503	SO:0001583	missense	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.853G>A	22.37:g.43627873C>T	ENSP00000354080:p.Glu285Lys	Somatic	917	WXS	Illumina HiSeq	Phase_IV	Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E285K	ENST00000360835.4	37	c.853	CCDS14048.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.604529|5.604529	0.96626|0.96626	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000360835;ENST00000434132|ENST00000449304	T|.	0.36878|.	1.23|.	4.47|4.47	4.47|4.47	0.54385|0.54385	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85392|0.85392	0.5686|0.5686	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.89303|0.89303	0.3627|0.3627	10|5	0.87932|.	D|.	0|.	.|.	16.4156|16.4156	0.83732|0.83732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285|.	Q8IWY4|.	SCUB1_HUMAN|.	K|Q	285|138	ENSP00000354080:E285K|.	ENSP00000354080:E285K|.	E|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41957817|41957817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.411000|7.411000	0.80078|0.80078	2.473000|2.473000	0.83533|0.83533	0.561000|0.561000	0.74099|0.74099	GAG|CGA	SCUBE1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.637	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	C	NM_173050		43627873	-1	no_errors	ENST00000360835	ensembl	human	known	70_37	missense	SNP	1.000	T
SCYL2	55681	genome.wustl.edu	37	12	100704857	100704857	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:100704857G>A	ENST00000360820.2	+	5	953	c.516G>A	c.(514-516)gtG>gtA	p.V172V		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATAGCAGTGTGAAAATGGTGC	0.303																																																	0													100.0	102.0	101.0					12																	100704857		2203	4300	6503	SO:0001819	synonymous_variant	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.516G>A	12.37:g.100704857G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.V172	ENST00000360820.2	37	c.516	CCDS9076.1	12																																																																																			SCYL2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.303	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	G	NM_017988		100704857	+1	no_errors	ENST00000360820	ensembl	human	known	70_37	silent	SNP	0.994	A
SDE2	163859	genome.wustl.edu	37	1	226179020	226179020	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:226179020C>T	ENST00000272091.7	-	5	583	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	189								p.E177*(1)									TTCCGATTCTCACTGATTTCT	0.433																																																	1	Substitution - Nonsense(1)	skin(1)											108.0	101.0	103.0					1																	226179020		1945	4158	6103	SO:0001583	missense	163859			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.565G>A	1.37:g.226179020C>T	ENSP00000272091:p.Glu189Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	superfamily_Mopterin_synth/thiamin_S_b	p.E189K	ENST00000272091.7	37	c.565	CCDS41473.1	1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576079	0.65878	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.45276	0.9;0.9	5.85	5.85	0.93711	.	0.556115	0.21061	N	0.080829	T	0.36496	0.0969	L	0.55481	1.735	0.09310	N	0.999999	B;B	0.32753	0.383;0.085	B;B	0.30495	0.116;0.02	T	0.28744	-1.0034	10	0.12103	T	0.63	-21.1198	13.7988	0.63188	0.0:0.9215:0.0:0.0785	.	177;189	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	K	189;177;94	ENSP00000272091:E189K;ENSP00000355782:E94K	ENSP00000272091:E189K	E	-	1	0	C1orf55	224245643	0.481000	0.25941	0.729000	0.30791	0.396000	0.30629	2.084000	0.41625	2.767000	0.95098	0.557000	0.71058	GAG	SDE2	-	NULL		0.433	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDE2	HGNC	protein_coding	OTTHUMT00000091310.1	C	NM_152608		226179020	-1	no_errors	ENST00000272091	ensembl	human	known	70_37	missense	SNP	0.145	T
CPSF7	79869	genome.wustl.edu	37	11	61197647	61197647	+	5'Flank	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61197647C>T	ENST00000394888.4	-	0	0				RP11-286N22.8_ENST00000543044.1_5'UTR|CPSF7_ENST00000448745.1_5'Flank|SDHAF2_ENST00000543265.1_Missense_Mutation_p.S10L|SDHAF2_ENST00000301761.2_Missense_Mutation_p.S10L|SDHAF2_ENST00000537782.1_Missense_Mutation_p.S10L|CPSF7_ENST00000439958.3_5'Flank|CPSF7_ENST00000541963.1_5'Flank|SDHAF2_ENST00000534878.1_Missense_Mutation_p.S10L|CPSF7_ENST00000340437.4_5'Flank|SDHAF2_ENST00000542074.1_Missense_Mutation_p.S10L|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTCTCGACTTCGTCGCTGGTG	0.627																																																	0													72.0	75.0	74.0					11																	61197647		2202	4299	6501	SO:0001631	upstream_gene_variant	54949				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198		11.37:g.61197647C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_DUF339,superfamily_DUF339	p.S10L	ENST00000394888.4	37	c.29	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	c	10.47	1.360123	0.24598	.	.	ENSG00000256591;ENSG00000167985;ENSG00000167985	ENST00000541135;ENST00000301761;ENST00000543265	T;T;T	0.77229	-1.08;-1.01;-1.0	4.17	3.05	0.35203	.	1.947360	0.02250	N	0.066531	T	0.50922	0.1644	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50709	-0.8796	10	0.20046	T	0.44	0.6408	5.857	0.18724	0.0:0.1209:0.0:0.8791	.	10	Q9NX18	SDHF2_HUMAN	L	10	ENSP00000443130:S10L;ENSP00000301761:S10L;ENSP00000443660:S10L	ENSP00000440939:S10L	S	+	2	0	SDHAF2;RP11-286N22.8	60954223	0.003000	0.15002	0.007000	0.13788	0.000000	0.00434	1.155000	0.31700	0.952000	0.37798	-0.376000	0.06991	TCG	SDHAF2	-	NULL		0.627	CPSF7-006	KNOWN	basic|CCDS	protein_coding	SDHAF2	HGNC	protein_coding	OTTHUMT00000347835.2	C	NM_024811		61197647	+1	no_errors	ENST00000301761	ensembl	human	known	70_37	missense	SNP	0.009	T
SEC16A	9919	genome.wustl.edu	37	9	139371806	139371806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139371806G>A	ENST00000313050.7	-	1	335	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGTGCTGAGAAAACCCT	0.572																																																	0													70.0	75.0	73.0					9																	139371806		1971	4137	6108	SO:0001587	stop_gained	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.262C>T	9.37:g.139371806G>A	ENSP00000325827:p.Gln88*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	NULL	p.Q88*	ENST00000313050.7	37	c.262	CCDS55351.1	9	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702595	0.88924	.	.	ENSG00000148396	ENST00000313050	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8187	0.92088	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	.	Q	-	1	0	SEC16A	138491627	1.000000	0.71417	0.940000	0.37924	0.087000	0.18053	9.179000	0.94861	2.692000	0.91855	0.655000	0.94253	CAG	SEC16A	-	NULL		0.572	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16A	HGNC	protein_coding		G	XM_088459		139371806	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SEC24C	9632	genome.wustl.edu	37	10	75529389	75529389	+	Silent	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75529389G>T	ENST00000339365.2	+	20	2742	c.2580G>T	c.(2578-2580)ctG>ctT	p.L860L	SEC24C_ENST00000535742.1_Silent_p.L108L|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Silent_p.L741L|SEC24C_ENST00000345254.4_Silent_p.L860L|FUT11_ENST00000394790.1_5'Flank|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Silent_p.L108L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	860					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGGGAGTCCTGAATAGCCCTG	0.542																																																	0													95.0	84.0	88.0					10																	75529389		2203	4300	6503	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2580G>T	10.37:g.75529389G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZT4|Q8WV25	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.L860	ENST00000339365.2	37	c.2580	CCDS7332.1	10																																																																																			SEC24C	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom		0.542	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75529389	+1	no_errors	ENST00000339365	ensembl	human	known	70_37	silent	SNP	0.150	T
SEL1L3	23231	genome.wustl.edu	37	4	25806331	25806331	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:25806331C>G	ENST00000399878.3	-	10	1730	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K501N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K383N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	536						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCAAATATCTTCCCACCGA	0.428																																																	0													111.0	106.0	107.0					4																	25806331		1865	4110	5975	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1608G>C	4.37:g.25806331C>G	ENSP00000382767:p.Lys536Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.K536N	ENST00000399878.3	37	c.1608	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633341	0.29068	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14766	2.68;2.69;2.48	6.02	6.02	0.97574	.	0.499335	0.26200	N	0.025749	T	0.08714	0.0216	N	0.08118	0	0.29482	N	0.856286	B	0.33413	0.411	B	0.26517	0.07	T	0.12091	-1.0561	10	0.49607	T	0.09	-7.5514	18.7213	0.91694	0.0:1.0:0.0:0.0	.	536	Q68CR1	SE1L3_HUMAN	N	536;501;383	ENSP00000382767:K536N;ENSP00000264868:K501N;ENSP00000425438:K383N	ENSP00000264868:K501N	K	-	3	2	SEL1L3	25415429	0.808000	0.29022	0.999000	0.59377	0.190000	0.23558	1.577000	0.36515	2.865000	0.98341	0.655000	0.94253	AAG	SEL1L3	-	NULL		0.428	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	C	NM_015187		25806331	-1	no_errors	ENST00000399878	ensembl	human	known	70_37	missense	SNP	1.000	G
SEMA3A	10371	genome.wustl.edu	37	7	83610767	83610767	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:83610767C>T	ENST00000265362.4	-	14	1836	c.1522G>A	c.(1522-1524)Ggg>Agg	p.G508R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G508R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	508	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGGCAACCCCAGCCGTTGAA	0.453																																																	0													58.0	57.0	57.0					7																	83610767		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1522G>A	7.37:g.83610767C>T	ENSP00000265362:p.Gly508Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.G508R	ENST00000265362.4	37	c.1522	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909491	0.72868	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.24350	1.86;1.86	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.094462	0.64402	D	0.000001	T	0.54886	0.1886	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55897	-0.8068	10	0.72032	D	0.01	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	508	Q14563	SEM3A_HUMAN	R	508	ENSP00000265362:G508R;ENSP00000415260:G508R	ENSP00000265362:G508R	G	-	1	0	SEMA3A	83448703	1.000000	0.71417	0.467000	0.27180	0.044000	0.14063	7.770000	0.85390	2.687000	0.91594	0.655000	0.94253	GGG	SEMA3A	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83610767	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA4F	10505	genome.wustl.edu	37	2	74900842	74900842	+	Missense_Mutation	SNP	G	G	A	rs199684823		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:74900842G>A	ENST00000357877.2	+	7	858	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	237	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GAGCCCAGCCGAATGGGGGGA	0.562																																																	0													72.0	73.0	72.0					2																	74900842		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.709G>A	2.37:g.74900842G>A	ENSP00000350547:p.Glu237Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E237K	ENST00000357877.2	37	c.709	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291466	0.23564	.	.	ENSG00000135622	ENST00000357877	T	0.11063	2.81	4.26	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	44.320000	0.00166	N	0.000000	T	0.06554	0.0168	N	0.08118	0	0.19300	N	0.999973	B	0.20780	0.048	B	0.17722	0.019	T	0.33369	-0.9871	10	0.06494	T	0.89	.	9.5549	0.39332	0.0:0.0:0.7904:0.2096	.	237	O95754	SEM4F_HUMAN	K	237	ENSP00000350547:E237K	ENSP00000350547:E237K	E	+	1	0	SEMA4F	74754350	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.733000	0.62036	1.128000	0.42052	0.462000	0.41574	GAA	SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	G	NM_004263		74900842	+1	no_errors	ENST00000357877	ensembl	human	known	70_37	missense	SNP	0.304	A
SEMA6A	57556	genome.wustl.edu	37	5	115814368	115814368	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:115814368G>C	ENST00000343348.6	-	13	2084	c.1297C>G	c.(1297-1299)Cag>Gag	p.Q433E	SEMA6A_ENST00000510263.1_Missense_Mutation_p.Q433E|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_De_novo_Start_OutOfFrame|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Q433E	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	433	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGTGATTCTGATATGGCCCA	0.403																																																	0													81.0	77.0	79.0					5																	115814368		1889	4115	6004	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1297C>G	5.37:g.115814368G>C	ENSP00000345512:p.Gln433Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.Q433E	ENST00000343348.6	37	c.1297	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.840672|1.840672	0.32513|0.32513	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000510263	.|T;T;T	.|0.21191	.|2.02;2.02;2.02	6.0|6.0	4.17|4.17	0.49024|0.49024	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.|0.523000	.|0.22780	.|N	.|0.055736	T|T	0.12178|0.12178	0.0296|0.0296	N|N	0.05383|0.05383	-0.06|-0.06	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.05386|0.05386	-1.0888|-1.0888	5|10	.|0.66056	.|D	.|0.02	.|.	12.417|12.417	0.55500|0.55500	0.0:0.2379:0.6389:0.1232|0.0:0.2379:0.6389:0.1232	.|.	.|433;433	.|Q9H2E6;Q9H2E6-2	.|SEM6A_HUMAN;.	M|E	2|433	.|ENSP00000345512:Q433E;ENSP00000257414:Q433E;ENSP00000424388:Q433E	.|ENSP00000257414:Q433E	I|Q	-|-	3|1	3|0	SEMA6A|SEMA6A	115842267|115842267	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.980000|0.980000	0.70556|0.70556	2.887000|2.887000	0.48586|0.48586	0.826000|0.826000	0.34661|0.34661	0.551000|0.551000	0.68910|0.68910	ATC|CAG	SEMA6A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.403	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	G	NM_020796		115814368	-1	no_errors	ENST00000257414	ensembl	human	known	70_37	missense	SNP	1.000	C
SENP7	57337	genome.wustl.edu	37	3	101046647	101046647	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:101046647C>G	ENST00000394095.2	-	23	2931	c.2878G>C	c.(2878-2880)Gag>Cag	p.E960Q	SENP7_ENST00000358203.3_Missense_Mutation_p.E796Q|SENP7_ENST00000394085.3_Missense_Mutation_p.E148Q|SENP7_ENST00000348610.3_Missense_Mutation_p.E927Q|SENP7_ENST00000394094.2_Missense_Mutation_p.E895Q|SENP7_ENST00000394091.1_Missense_Mutation_p.E796Q|SENP7_ENST00000314261.7_Missense_Mutation_p.E894Q	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	960	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTCCCACTCTACCTCTAAA	0.343																																																	0													157.0	141.0	146.0					3																	101046647		2203	4300	6503	SO:0001583	missense	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2878G>C	3.37:g.101046647C>G	ENSP00000377655:p.Glu960Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E960Q	ENST00000394095.2	37	c.2878	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634448	0.87660	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.943;0.982;0.973;0.978;1.0	T	0.77127	-0.2702	10	0.72032	D	0.01	-2.3598	19.2371	0.93866	0.0:1.0:0.0:0.0	.	796;894;927;960;148	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	Q	960;895;894;796;796;148;927	ENSP00000377655:E960Q;ENSP00000377654:E895Q;ENSP00000313624:E894Q;ENSP00000377651:E796Q;ENSP00000350936:E796Q;ENSP00000377647:E148Q;ENSP00000342159:E927Q	ENSP00000313624:E894Q	E	-	1	0	SENP7	102529337	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.893000	0.75649	2.609000	0.88269	0.655000	0.94253	GAG	SENP7	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	C	NM_020654		101046647	-1	no_errors	ENST00000394095	ensembl	human	known	70_37	missense	SNP	1.000	G
SEPT1	1731	genome.wustl.edu	37	16	30392728	30392728	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30392728C>G	ENST00000571393.1	-	6	558	c.372G>C	c.(370-372)ctG>ctC	p.L124L	SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Silent_p.L129L|SEPT1_ENST00000321367.3_Silent_p.L171L			Q8WYJ6	SEPT1_HUMAN	septin 1	124	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCTTCCGGTTCAGGCCACTCT	0.592																																																	0													100.0	95.0	97.0					16																	30392728		2197	4300	6497	SO:0001819	synonymous_variant	1731			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.372G>C	16.37:g.30392728C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.L129	ENST00000571393.1	37	c.387		16																																																																																			SEPT1	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.592	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		C	NM_052838		30392728	-1	no_errors	ENST00000321367	ensembl	human	known	70_37	silent	SNP	1.000	G
SEPHS2	22928	genome.wustl.edu	37	16	30456155	30456155	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30456155G>C	ENST00000478753.2	-	1	1347	c.894C>G	c.(892-894)ctC>ctG	p.L298L	SEPHS2_ENST00000542752.1_Silent_p.L241L|SEPHS2_ENST00000500504.2_Silent_p.L298L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	298					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAGTTCTGTTGAGGGTAGCCA	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													97.0	93.0	94.0					16																	30456155		1972	4153	6125	SO:0001819	synonymous_variant	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.894C>G	16.37:g.30456155G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUQ2	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.L241	ENST00000478753.2	37	c.723		16																																																																																			SEPHS2	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD		0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	G	NM_012248		30456155	-1	no_errors	ENST00000542752	ensembl	human	known	70_37	silent	SNP	0.010	C
SERP1	27230	genome.wustl.edu	37	3	150263566	150263566	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:150263566C>T	ENST00000479209.1	-	3	1357		c.e3-1		EIF2A_ENST00000460851.1_5'Flank|EIF2A_ENST00000406576.3_5'Flank|EIF2A_ENST00000487799.1_5'Flank|SERP1_ENST00000491660.1_Splice_Site|SERP1_ENST00000239944.2_Splice_Site|EIF2A_ENST00000273435.5_5'Flank|SERP1_ENST00000487153.1_Intron			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGCATTTCTCTGCAAAAGCG	0.572																																																	0													70.0	73.0	72.0					3																	150263566		2203	4300	6503	SO:0001630	splice_region_variant	27230			AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769	ENST00000479209.1:c.85-1G>A	3.37:g.150263566C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNI6	Splice_Site	SNP	-	e2-1	ENST00000479209.1	37	c.85-1	CCDS3150.1	3	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119962	0.77323	.	.	ENSG00000120742	ENST00000239944;ENST00000479209;ENST00000491660	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9806	0.71309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERP1	151746256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.312000	0.72840	2.043000	0.60533	0.557000	0.71058	.	SERP1	-	-		0.572	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP1	HGNC	protein_coding	OTTHUMT00000357239.1	C	NM_014445	Intron	150263566	-1	no_errors	ENST00000239944	ensembl	human	known	70_37	splice_site	SNP	1.000	T
SETD1A	9739	genome.wustl.edu	37	16	30991903	30991903	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30991903C>T	ENST00000262519.8	+	15	5192	c.4506C>T	c.(4504-4506)atC>atT	p.I1502I		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1502	Interaction with ASH2L, RBBP5 and WDR5.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTACCCCATCAGCAAGAAGG	0.672																																																	0													75.0	63.0	67.0					16																	30991903		2197	4300	6497	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4506C>T	16.37:g.30991903C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.I1502	ENST00000262519.8	37	c.4506	CCDS32435.1	16																																																																																			SETD1A	-	pfam_COMPASS_Set1_N-SET		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	C	NM_014712		30991903	+1	no_errors	ENST00000262519	ensembl	human	known	70_37	silent	SNP	1.000	T
SETD8	387893	genome.wustl.edu	37	12	123875255	123875255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:123875255C>T	ENST00000402868.3	+	3	637	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Nonsense_Mutation_p.Q71*			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	112					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TTTCCCCCTTCAGGAAGAGAA	0.448																																																	0													110.0	104.0	106.0					12																	123875255		2203	4300	6503	SO:0001587	stop_gained	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.211C>T	12.37:g.123875255C>T	ENSP00000384629:p.Gln71*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9D0|Q86W83|Q8TD09	Nonsense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.Q71*	ENST00000402868.3	37	c.211	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.545978	0.96488	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	.	.	.	5.29	5.29	0.74685	.	0.063746	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-29.9282	18.5385	0.91019	0.0:1.0:0.0:0.0	.	.	.	.	X	71;71;62	.	ENSP00000332995:Q71X	Q	+	1	0	SETD8	122441208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.700000	0.61803	2.474000	0.83562	0.561000	0.74099	CAG	SETD8	-	pirsf_Hist_H4-K20_MeTrfase		0.448	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	C	NM_020382		123875255	+1	no_errors	ENST00000330479	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SETDB1	9869	genome.wustl.edu	37	1	150923106	150923106	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:150923106C>A	ENST00000271640.5	+	13	1943	c.1753C>A	c.(1753-1755)Cga>Aga	p.R585R	SETDB1_ENST00000368969.4_Silent_p.R585R|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	585					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R585*(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTCTGTCTCGAGTCAGACC	0.567																																																	2	Substitution - Nonsense(2)	large_intestine(2)											97.0	96.0	96.0					1																	150923106		2203	4300	6503	SO:0001819	synonymous_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1753C>A	1.37:g.150923106C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R585	ENST00000271640.5	37	c.1753	CCDS44217.1	1																																																																																			SETDB1	-	NULL		0.567	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150923106	+1	no_errors	ENST00000271640	ensembl	human	known	70_37	silent	SNP	1.000	A
SETX	23064	genome.wustl.edu	37	9	135211731	135211731	+	Missense_Mutation	SNP	G	G	C	rs141974509		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:135211731G>C	ENST00000224140.5	-	6	852	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	SETX_ENST00000372169.2_Missense_Mutation_p.L224V|SETX_ENST00000393220.1_Missense_Mutation_p.L224V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	224					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTGAGGGCAGAAGAATCAGT	0.348																																																	0								G	VAL/LEU	1,4405	2.1+/-5.4	0,1,2202	84.0	79.0	81.0		670	3.1	1.0	9	dbSNP_134	81	0,8600		0,0,4300	no	missense	SETX	NM_015046.5	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	224/2678	135211731	1,13005	2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.670C>G	9.37:g.135211731G>C	ENSP00000224140:p.Leu224Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.L224V	ENST00000224140.5	37	c.670	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542348	0.65198	2.27E-4	0.0	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.66099	-0.19;-0.19;-0.19	6.04	3.1	0.35709	.	0.000000	0.64402	D	0.000010	T	0.65954	0.2741	L	0.34521	1.04	0.29755	N	0.835992	D	0.76494	0.999	D	0.80764	0.994	T	0.62286	-0.6886	10	0.87932	D	0	.	8.4059	0.32614	0.3163:0.0:0.6837:0.0	.	224	Q7Z333	SETX_HUMAN	V	224	ENSP00000224140:L224V;ENSP00000361242:L224V;ENSP00000376913:L224V	ENSP00000224140:L224V	L	-	1	2	SETX	134201552	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.832000	0.27490	0.819000	0.34492	0.650000	0.86243	CTG	SETX	-	NULL		0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135211731	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	missense	SNP	1.000	C
SEZ6L	23544	genome.wustl.edu	37	22	26747131	26747131	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:26747131G>C	ENST00000248933.6	+	12	2616	c.2521G>C	c.(2521-2523)Gaa>Caa	p.E841Q	SEZ6L_ENST00000411842.2_Missense_Mutation_p.E38Q|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E614Q|SEZ6L_ENST00000529632.2_Missense_Mutation_p.E841Q|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E841Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E841Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E614Q			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	841	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTTTGTGCTTGAAGGGAGTTC	0.557																																																	0													134.0	114.0	121.0					22																	26747131		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2521G>C	22.37:g.26747131G>C	ENSP00000248933:p.Glu841Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E841Q	ENST00000248933.6	37	c.2521	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	g	14.44	2.534735	0.45073	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000038	T	0.57125	0.2032	N	0.13272	0.32	0.42735	D	0.993722	P;B;B;B;B;B	0.41784	0.762;0.059;0.014;0.081;0.059;0.059	P;B;B;B;B;B	0.50708	0.648;0.074;0.062;0.044;0.06;0.074	T	0.58896	-0.7555	10	0.33940	T	0.23	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	841;841;614;841;841;841	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	Q	841;841;841;841;614;614;38	ENSP00000384772:E841Q;ENSP00000437037:E841Q;ENSP00000248933:E841Q;ENSP00000342661:E841Q;ENSP00000384838:E614Q;ENSP00000384733:E614Q;ENSP00000397274:E38Q	ENSP00000248933:E841Q	E	+	1	0	SEZ6L	25077131	1.000000	0.71417	0.844000	0.33320	0.845000	0.48019	6.413000	0.73308	2.381000	0.81170	0.539000	0.68188	GAA	SEZ6L	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26747131	+1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	0.997	C
SF3A1	10291	genome.wustl.edu	37	22	30736706	30736706	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:30736706G>C	ENST00000215793.8	-	8	1321	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V	SF3A1_ENST00000439242.1_Silent_p.V324V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	389					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AATCCTTGCGGACAATGACTT	0.577																																																	0													109.0	101.0	104.0					22																	30736706		2203	4300	6503	SO:0001819	synonymous_variant	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1167C>G	22.37:g.30736706G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PAW1	Silent	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.V389	ENST00000215793.8	37	c.1167	CCDS13875.1	22																																																																																			SF3A1	-	pfam_PRP21-like		0.577	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	G	NM_005877		30736706	-1	no_errors	ENST00000215793	ensembl	human	known	70_37	silent	SNP	0.957	C
SFMBT1	51460	genome.wustl.edu	37	3	52988418	52988418	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:52988418G>A	ENST00000394752.3	-	3	420	c.38C>T	c.(37-39)tCt>tTt	p.S13F	SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000296295.6_Missense_Mutation_p.S13F|SFMBT1_ENST00000394750.1_Missense_Mutation_p.S13F|SFMBT1_ENST00000358080.2_Missense_Mutation_p.S13F	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	13					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTCCATACCAGAGCCGGCATC	0.333																																																	0													104.0	109.0	107.0					3																	52988418		2203	4300	6503	SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.38C>T	3.37:g.52988418G>A	ENSP00000378235:p.Ser13Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.S13F	ENST00000394752.3	37	c.38	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932708	0.34096	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750;ENST00000482396;ENST00000483069;ENST00000497586	T;T;T;T;T;T	0.46819	2.41;2.41;2.39;2.41;1.88;0.86	5.7	5.7	0.88788	.	0.129946	0.53938	D	0.000052	T	0.41050	0.1142	L	0.39147	1.195	0.53005	D	0.999968	B	0.31879	0.344	B	0.32624	0.149	T	0.35525	-0.9785	10	0.56958	D	0.05	.	12.7438	0.57268	0.0759:0.0:0.9241:0.0	.	13	Q9UHJ3	SMBT1_HUMAN	F	13	ENSP00000378235:S13F;ENSP00000350789:S13F;ENSP00000296295:S13F;ENSP00000378233:S13F;ENSP00000418860:S13F;ENSP00000418950:S13F	ENSP00000296295:S13F	S	-	2	0	SFMBT1	52963458	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.297000	0.59061	2.680000	0.91292	0.585000	0.79938	TCT	SFMBT1	-	NULL		0.333	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52988418	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	missense	SNP	1.000	A
SFXN5	94097	genome.wustl.edu	37	2	73171779	73171779	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:73171779C>G	ENST00000272433.2	-	0	1525				SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AACTAAGGCTCAGATTTGATT	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	94097			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.*372G>C	2.37:g.73171779C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K116|Q494Y3|Q53T29	RNA	SNP	-	NULL	ENST00000272433.2	37	NULL	CCDS1922.1	2																																																																																			SFXN5	-	-		0.438	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1	C	NM_144579		73171779	-1	no_errors	ENST00000461352	ensembl	human	known	70_37	rna	SNP	1.000	G
SGCG	6445	genome.wustl.edu	37	13	23777968	23777968	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:23777968C>T	ENST00000218867.3	+	2	259	c.135C>T	c.(133-135)atC>atT	p.I45I	SGCG_ENST00000537476.1_Silent_p.I45I|SGCG_ENST00000545013.1_Silent_p.I45I	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	45					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TTTTACTCATCATCCTCGTTG	0.373																																																	0													257.0	223.0	235.0					13																	23777968		2203	4300	6503	SO:0001819	synonymous_variant	6445			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.135C>T	13.37:g.23777968C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32M32|Q5T9J6	Silent	SNP	pfam_Sarcoglycan	p.I45	ENST00000218867.3	37	c.135	CCDS9299.1	13																																																																																			SGCG	-	pfam_Sarcoglycan		0.373	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	C	NM_000231		23777968	+1	no_errors	ENST00000218867	ensembl	human	known	70_37	silent	SNP	1.000	T
SH3BP5	9467	genome.wustl.edu	37	3	15297502	15297502	+	3'UTR	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:15297502G>C	ENST00000383791.3	-	0	1679				SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000426925.1_3'UTR|SH3BP5_ENST00000408919.3_3'UTR|SH3BP5_ENST00000253688.5_3'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)						intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						AGACGTGTAAGATTTGGCATA	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	100505696			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.*91C>G	3.37:g.15297502G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQW6|Q5JWV9	RNA	SNP	-	NULL	ENST00000383791.3	37	NULL	CCDS2625.2	3																																																																																			SH3BP5-AS1	-	-		0.418	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5-AS1	HGNC	protein_coding	OTTHUMT00000340740.2	G	NM_004844		15297502	+1	no_errors	ENST00000420195	ensembl	human	known	70_37	rna	SNP	0.435	C
SH3BP5L	80851	genome.wustl.edu	37	1	249105132	249105132	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:249105132G>A	ENST00000366472.5	-	0	3378				SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like											endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GAGCAAGGGAGAGCAATTGAG	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	80851			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.*967C>T	1.37:g.249105132G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	RNA	SNP	-	NULL	ENST00000366472.5	37	NULL	CCDS31126.1	1																																																																																			SH3BP5L	-	-		0.517	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1	G	NM_030645		249105132	-1	no_errors	ENST00000475978	ensembl	human	known	70_37	rna	SNP	0.318	A
SH3D19	152503	genome.wustl.edu	37	4	152065075	152065075	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:152065075C>G	ENST00000409252.2	-	12	2146	c.1439G>C	c.(1438-1440)aGa>aCa	p.R480T	SH3D19_ENST00000455740.1_Missense_Mutation_p.R457T|SH3D19_ENST00000424281.1_Missense_Mutation_p.R421T|SH3D19_ENST00000514152.1_Missense_Mutation_p.R457T|SH3D19_ENST00000427414.2_Missense_Mutation_p.R421T|SH3D19_ENST00000304527.4_Missense_Mutation_p.R480T|SH3D19_ENST00000409598.4_Missense_Mutation_p.R457T|RP11-372K14.2_ENST00000603472.1_RNA			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	480					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGGTCTGCTTCTAAGATGTTC	0.378																																																	0													154.0	146.0	148.0					4																	152065075		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1439G>C	4.37:g.152065075C>G	ENSP00000386848:p.Arg480Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.R480T	ENST00000409252.2	37	c.1439	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201229	0.22121	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69175	-0.38;2.6;-0.38;-0.37;-0.37;2.6;-0.38	5.68	2.58	0.30949	.	.	.	.	.	T	0.54631	0.1870	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.25609	0.08;0.13;0.12;0.025	B;B;B;B	0.32624	0.045;0.098;0.149;0.045	T	0.42965	-0.9420	9	0.20046	T	0.44	-7.2411	4.3606	0.11201	0.0:0.4799:0.1768:0.3433	.	480;457;421;235	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	T	457;480;457;421;421;480;457	ENSP00000387030:R457T;ENSP00000302913:R480T;ENSP00000416708:R457T;ENSP00000404542:R421T;ENSP00000415694:R421T;ENSP00000386848:R480T;ENSP00000423449:R457T	ENSP00000302913:R480T	R	-	2	0	SH3D19	152284525	0.003000	0.15002	0.154000	0.22540	0.755000	0.42902	0.165000	0.16564	0.745000	0.32763	0.561000	0.74099	AGA	SH3D19	-	NULL		0.378	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	C	NM_001009555		152065075	-1	no_errors	ENST00000304527	ensembl	human	known	70_37	missense	SNP	0.008	G
SH3D21	79729	genome.wustl.edu	37	1	36785319	36785319	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36785319G>A	ENST00000426732.2	+	13	992	c.707G>A	c.(706-708)aGa>aAa	p.R236K	EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Missense_Mutation_p.R352K|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.R241K			A4FU49	SH321_HUMAN	SH3 domain containing 21	236						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						TCTGTGAAGAGAACCCCCATG	0.627																																																	0													29.0	41.0	37.0					1																	36785319		2195	4296	6491	SO:0001583	missense	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.707G>A	1.37:g.36785319G>A	ENSP00000408613:p.Arg236Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.R352K	ENST00000426732.2	37	c.1055		1	.	.	.	.	.	.	.	.	.	.	G	0.660	-0.806211	0.02819	.	.	ENSG00000214193	ENST00000373139;ENST00000453908;ENST00000426732;ENST00000505871	T;T;T;T	0.33654	1.4;1.51;1.94;1.94	3.65	1.17	0.20885	.	.	.	.	.	T	0.12092	0.0294	N	0.03324	-0.35	0.19300	N	0.999976	B;B	0.12630	0.006;0.002	B;B	0.08055	0.003;0.001	T	0.33471	-0.9867	9	0.02654	T	1	.	5.8555	0.18716	0.5931:0.0:0.4069:0.0	.	241;236	A4FU49-3;A4FU49	.;SH321_HUMAN	K	352;352;236;241	ENSP00000362232:R352K;ENSP00000403476:R352K;ENSP00000408613:R236K;ENSP00000421294:R241K	ENSP00000362232:R352K	R	+	2	0	SH3D21	36557906	0.345000	0.24835	0.002000	0.10522	0.030000	0.12068	2.613000	0.46351	0.228000	0.21019	0.563000	0.77884	AGA	SH3D21	-	NULL		0.627	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		G	NM_024676		36785319	+1	no_errors	ENST00000453908	ensembl	human	known	70_37	missense	SNP	0.002	A
SH3RF2	153769	genome.wustl.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145379738G>A	ENST00000511217.1	+	2	548	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E166K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	166	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547																																																	0													60.0	62.0	61.0					5																	145379738		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.496G>A	5.37:g.145379738G>A	ENSP00000424497:p.Glu166Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.E166K	ENST00000511217.1	37	c.496	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494648	0.85069	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.31247	1.5;1.5	6.17	6.17	0.99709	Src homology-3 domain (3);Variant SH3 (1);	0.065546	0.64402	D	0.000006	T	0.52533	0.1740	M	0.63428	1.95	0.58432	D	0.999992	D	0.67145	0.996	D	0.65573	0.936	T	0.48833	-0.9000	10	0.72032	D	0.01	-35.8695	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	166	Q8TEC5	SH3R2_HUMAN	K	166	ENSP00000352028:E166K;ENSP00000424497:E166K	ENSP00000352028:E166K	E	+	1	0	SH3RF2	145359931	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	GAA	SH3RF2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.547	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	G	NM_152550		145379738	+1	no_errors	ENST00000359120	ensembl	human	known	70_37	missense	SNP	1.000	A
SHARPIN	81858	genome.wustl.edu	37	8	145158082	145158082	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:145158082C>T	ENST00000398712.2	-	2	684	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MAF1_ENST00000534585.1_5'Flank|SHARPIN_ENST00000533948.1_5'UTR|MAF1_ENST00000532522.1_5'Flank|MAF1_ENST00000322428.5_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	83	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGTGGGGCCTCGGATGGT	0.627																																																	0													60.0	69.0	66.0					8																	145158082		2043	4191	6234	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.248G>A	8.37:g.145158082C>T	ENSP00000381698:p.Gly83Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.G83D	ENST00000398712.2	37	c.248	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675220	0.47781	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.34667	1.81;1.35	4.31	4.31	0.51392	.	0.343543	0.28778	N	0.014173	T	0.51736	0.1692	M	0.72118	2.19	0.09310	N	1	D	0.63880	0.993	P	0.57371	0.819	T	0.47548	-0.9109	10	0.72032	D	0.01	.	12.1584	0.54091	0.0:1.0:0.0:0.0	.	83	Q9H0F6	SHRPN_HUMAN	D	83	ENSP00000381698:G83D;ENSP00000352551:G83D	ENSP00000352551:G83D	G	-	2	0	SHARPIN	145230070	0.028000	0.19301	0.108000	0.21378	0.063000	0.16089	1.652000	0.37313	2.252000	0.74401	0.561000	0.74099	GGC	SHARPIN	-	NULL		0.627	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	C	NM_030974		145158082	-1	no_errors	ENST00000398712	ensembl	human	known	70_37	missense	SNP	0.131	T
SHISA4	149345	genome.wustl.edu	37	1	201859683	201859683	+	Missense_Mutation	SNP	G	G	A	rs367890261		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:201859683G>A	ENST00000362011.6	+	3	634	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	116						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						TACCTGTACCGCCGGCGCCAG	0.572																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	166.0	155.0	159.0		347	5.2	1.0	1		159	0,8600		0,0,4300	no	missense	SHISA4	NM_198149.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	116/198	201859683	1,13005	2203	4300	6503	SO:0001583	missense	149345			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.347G>A	1.37:g.201859683G>A	ENSP00000355064:p.Arg116His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	NULL	p.R116H	ENST00000362011.6	37	c.347	CCDS1416.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720940	0.89205	2.27E-4	0.0	ENSG00000198892	ENST00000362011	T	0.44083	0.93	5.25	5.25	0.73442	.	0.122536	0.64402	D	0.000015	T	0.54679	0.1873	L	0.55481	1.735	0.46167	D	0.998902	D	0.89917	1.0	D	0.68943	0.961	T	0.52268	-0.8598	10	0.40728	T	0.16	-11.27	9.872	0.41180	0.0934:0.0:0.9066:0.0	.	116	Q96DD7	SHSA4_HUMAN	H	116	ENSP00000355064:R116H	ENSP00000355064:R116H	R	+	2	0	SHISA4	200126306	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.714000	0.61902	2.454000	0.82982	0.491000	0.48974	CGC	SHISA4	-	NULL		0.572	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	G	NM_198149		201859683	+1	no_errors	ENST00000362011	ensembl	human	known	70_37	missense	SNP	1.000	A
SHMT2	6472	genome.wustl.edu	37	12	57625512	57625512	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57625512G>C	ENST00000328923.3	+	4	780	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	SHMT2_ENST00000414700.3_Missense_Mutation_p.E89Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.E89Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.E110Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.Q4H|SHMT2_ENST00000449049.3_Missense_Mutation_p.E89Q|SHMT2_ENST00000554600.1_3'UTR	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	110					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TGGGGGAGCAGAGGTGGTGGA	0.562																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													91.0	91.0	91.0					12																	57625512		2203	4300	6503	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.328G>C	12.37:g.57625512G>C	ENSP00000333667:p.Glu110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.E110Q	ENST00000328923.3	37	c.328	CCDS8934.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.533514|3.533514	0.64972|0.64972	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.52526|0.34072	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66|1.38	4.82|4.82	4.82|4.82	0.62117|0.62117	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.110893|.	0.64402|.	D|.	0.000016|.	T|T	0.38692|0.38692	0.1050|0.1050	L|L	0.49256|0.49256	1.55|1.55	0.31991|0.31991	N|N	0.604581|0.604581	P;P;B|B	0.36412|0.33448	0.527;0.552;0.303|0.412	B;B;B|B	0.41236|0.34722	0.351;0.285;0.145|0.188	T|T	0.53272|0.53272	-0.8462|-0.8462	10|9	0.40728|0.87932	T|D	0.16|0	-2.4613|-2.4613	17.2171|17.2171	0.86947|0.86947	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119;110;110|4	B4DWA7;Q8N1A5;P34897|B4DLV4	.;.;GLYM_HUMAN|.	Q|H	110;110;110;89;89;89;89;89;89;89;89;89;89|4	ENSP00000333667:E110Q;ENSP00000452315:E110Q;ENSP00000452035:E110Q;ENSP00000406881:E89Q;ENSP00000450452:E89Q;ENSP00000452161:E89Q;ENSP00000450893:E89Q;ENSP00000452045:E89Q;ENSP00000452419:E89Q;ENSP00000451968:E89Q;ENSP00000452404:E89Q;ENSP00000413770:E89Q;ENSP00000451495:E89Q|ENSP00000377413:Q4H	ENSP00000333667:E110Q|ENSP00000377413:Q4H	E|Q	+|+	1|3	0|2	SHMT2|SHMT2	55911779|55911779	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.970000|0.970000	0.65996|0.65996	9.594000|9.594000	0.98254|0.98254	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	GAG|CAG	SHMT2	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase		0.562	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2	G	NM_005412		57625512	+1	no_errors	ENST00000328923	ensembl	human	known	70_37	missense	SNP	1.000	C
SHROOM2	357	genome.wustl.edu	37	X	9914963	9914963	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:9914963G>A	ENST00000380913.3	+	10	4927	c.4837G>A	c.(4837-4839)Gaa>Aaa	p.E1613K	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E448K	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1613					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTTCAGCCCGAAAGGGGCAA	0.572																																																	0													20.0	17.0	18.0					X																	9914963		2191	4298	6489	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4837G>A	X.37:g.9914963G>A	ENSP00000370299:p.Glu1613Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1613K	ENST00000380913.3	37	c.4837	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995599	0.93167	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.37752	2.04;1.18	4.47	4.47	0.54385	.	0.063742	0.64402	D	0.000010	T	0.49029	0.1533	L	0.29908	0.895	0.49687	D	0.999811	D;D	0.89917	0.991;1.0	P;D	0.75484	0.468;0.986	T	0.54873	-0.8228	10	0.72032	D	0.01	-16.1213	16.8575	0.86009	0.0:0.0:1.0:0.0	.	447;1613	Q68DU3;Q13796	.;SHRM2_HUMAN	K	1613;448	ENSP00000370299:E1613K;ENSP00000415229:E448K	ENSP00000370299:E1613K	E	+	1	0	SHROOM2	9874963	0.942000	0.31987	0.023000	0.16930	0.230000	0.25150	3.606000	0.54095	1.984000	0.57885	0.594000	0.82650	GAA	SHROOM2	-	NULL		0.572	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	G	NM_001649		9914963	+1	no_errors	ENST00000380913	ensembl	human	known	70_37	missense	SNP	0.939	A
SIGIRR	59307	genome.wustl.edu	37	11	405938	405938	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:405938G>A	ENST00000431843.2	-	10	1497	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	SIGIRR_ENST00000382520.2_Missense_Mutation_p.P494S|SIGIRR_ENST00000397632.3_Silent_p.A397A|SIGIRR_ENST00000332725.3_Silent_p.A397A|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P494S	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	397					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTCTGTGCGGGCACTGTAGT	0.632																																																	0													60.0	47.0	51.0					11																	405938		2198	4294	6492	SO:0001819	synonymous_variant	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1191C>T	11.37:g.405938G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.P494S	ENST00000431843.2	37	c.1480	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.71|14.71	2.616068|2.616068	0.46631|0.46631	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000526395|ENST00000531205;ENST00000382520	.|T;T	.|0.04275	.|3.66;3.66	3.54|3.54	-5.38|-5.38	0.02673|0.02673	.|.	.|.	.|.	.|.	.|.	T|T	0.02970|0.02970	0.0088|0.0088	.|.	.|.	.|.	0.22947|0.22947	N|N	0.998523|0.998523	.|B	.|0.14438	.|0.01	.|B	.|0.10450	.|0.005	T|T	0.46693|0.46693	-0.9173|-0.9173	4|8	.|0.87932	.|D	.|0	.|.	0.8395|0.8395	0.01147|0.01147	0.1736:0.2404:0.2218:0.3642|0.1736:0.2404:0.2218:0.3642	.|.	.|494	.|C9JFX4	.|.	L|S	129|494	.|ENSP00000433022:P494S;ENSP00000371960:P494S	.|ENSP00000371960:P494S	P|P	-|-	2|1	0|0	SIGIRR|SIGIRR	395938|395938	0.314000|0.314000	0.24563|0.24563	0.898000|0.898000	0.35279|0.35279	0.930000|0.930000	0.56654|0.56654	-0.806000|-0.806000	0.04525|0.04525	-0.998000|-0.998000	0.03446|0.03446	-0.339000|-0.339000	0.08088|0.08088	CCC|CCG	SIGIRR	-	NULL		0.632	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	G	NM_021805		405938	-1	no_errors	ENST00000382520	ensembl	human	known	70_37	missense	SNP	0.920	A
SIK2	23235	genome.wustl.edu	37	11	111573944	111573944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111573944C>T	ENST00000304987.3	+	7	918	c.745C>T	c.(745-747)Cga>Tga	p.R249*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCACCTTATCCGAAGGATGTT	0.428																																																	0													124.0	111.0	115.0					11																	111573944		2201	4297	6498	SO:0001587	stop_gained	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.745C>T	11.37:g.111573944C>T	ENSP00000305976:p.Arg249*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R249*	ENST00000304987.3	37	c.745	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.164151	0.97338	.	.	ENSG00000170145	ENST00000304987	.	.	.	5.57	3.5	0.40072	.	0.067885	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1606	0.31196	0.3337:0.5895:0.0:0.0768	.	.	.	.	X	249	.	ENSP00000305976:R249X	R	+	1	2	SIK2	111079154	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.812000	0.55628	1.138000	0.42230	0.557000	0.71058	CGA	SIK2	-	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_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom		0.428	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	C	NM_015191		111573944	+1	no_errors	ENST00000304987	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SIK2	23235	genome.wustl.edu	37	11	111594257	111594257	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111594257C>G	ENST00000304987.3	+	15	2358	c.2185C>G	c.(2185-2187)Caa>Gaa	p.Q729E		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	729					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAAGCAGTCTCAACTGCAGGC	0.463																																																	0													66.0	76.0	73.0					11																	111594257		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2185C>G	11.37:g.111594257C>G	ENSP00000305976:p.Gln729Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q729E	ENST00000304987.3	37	c.2185	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341118	0.81911	.	.	ENSG00000170145	ENST00000304987	T	0.76709	-1.04	5.77	5.77	0.91146	.	0.115474	0.64402	D	0.000013	D	0.86711	0.5998	M	0.61703	1.905	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	D	0.85779	0.1360	10	0.49607	T	0.09	.	19.5931	0.95523	0.0:1.0:0.0:0.0	.	729	Q9H0K1	SIK2_HUMAN	E	729	ENSP00000305976:Q729E	ENSP00000305976:Q729E	Q	+	1	0	SIK2	111099467	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.313000	0.78978	2.728000	0.93425	0.655000	0.94253	CAA	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2		0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	C	NM_015191		111594257	+1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	1.000	G
SIDT2	51092	genome.wustl.edu	37	11	117054546	117054546	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:117054546G>A	ENST00000324225.4	+	7	1285	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	SIDT2_ENST00000431081.2_Missense_Mutation_p.E252K|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	252					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGTGAAGACCGAAGACCAAGC	0.512																																																	0													93.0	91.0	92.0					11																	117054546		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.754G>A	11.37:g.117054546G>A	ENSP00000314023:p.Glu252Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.E252K	ENST00000324225.4	37	c.754	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686971	0.88639	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.80616	2.505	0.80722	D	1	D;P;P;D	0.64830	0.974;0.903;0.575;0.994	P;B;B;D	0.63381	0.86;0.394;0.442;0.914	T	0.52786	-0.8529	10	0.51188	T	0.08	-15.4797	19.0823	0.93187	0.0:0.0:1.0:0.0	.	252;252;252;252	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	K	252;252;252;102	ENSP00000314023:E252K;ENSP00000278951:E252K;ENSP00000399635:E252K;ENSP00000436983:E102K	ENSP00000278951:E252K	E	+	1	0	SIDT2	116559756	1.000000	0.71417	0.957000	0.39632	0.930000	0.56654	9.043000	0.93799	2.840000	0.97914	0.596000	0.82720	GAA	SIDT2	-	NULL		0.512	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	G	NM_015996		117054546	+1	no_errors	ENST00000278951	ensembl	human	known	70_37	missense	SNP	0.999	A
SIM2	6493	genome.wustl.edu	37	21	38081692	38081692	+	Intron	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:38081692C>A	ENST00000290399.6	+	2	871				SIM2_ENST00000430056.3_Intron|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2						cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	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(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGTCCCCACTGCGGAGGGA	0.711																																																	0																																										SO:0001627	intron_variant	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.258+142C>A	21.37:g.38081692C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	RNA	SNP	-	NULL	ENST00000290399.6	37	NULL	CCDS13646.1	21																																																																																			SIM2	-	-		0.711	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	C	NM_009586		38081692	+1	no_errors	ENST00000460783	ensembl	human	known	70_37	rna	SNP	0.000	A
SIMC1	375484	genome.wustl.edu	37	5	175763857	175763857	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:175763857C>T	ENST00000443967.1	+	10	2656	c.2249C>T	c.(2248-2250)tCt>tTt	p.S750F	SIMC1_ENST00000341199.6_Missense_Mutation_p.S335F|SIMC1_ENST00000332772.4_Missense_Mutation_p.S211F|SIMC1_ENST00000430704.2_Missense_Mutation_p.S335F			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	750							SUMO polymer binding (GO:0032184)										CTGAATAATTCTACGTCACTG	0.502																																																	0													66.0	67.0	67.0					5																	175763857		2203	4300	6503	SO:0001583	missense	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2249C>T	5.37:g.175763857C>T	ENSP00000406571:p.Ser750Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.S750F	ENST00000443967.1	37	c.2249		5	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886562	0.51908	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.86	4.86	0.63082	.	0.169946	0.40385	N	0.001106	T	0.76652	0.4017	L	0.52573	1.65	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.80764	0.952;0.994;0.974	T	0.76575	-0.2909	10	0.48119	T	0.1	-17.1096	14.8467	0.70264	0.0:1.0:0.0:0.0	.	211;335;750	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	F	335;335;750;211	ENSP00000342075:S335F;ENSP00000409287:S335F;ENSP00000406571:S750F;ENSP00000331311:S211F	ENSP00000331311:S211F	S	+	2	0	C5orf25	175696463	0.993000	0.37304	0.989000	0.46669	0.303000	0.27691	2.456000	0.44997	2.529000	0.85273	0.467000	0.42956	TCT	SIMC1	-	NULL		0.502	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	C	NM_198567		175763857	+1	no_errors	ENST00000443967	ensembl	human	known	70_37	missense	SNP	0.990	T
SIN3A	25942	genome.wustl.edu	37	15	75682011	75682011	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:75682011G>A	ENST00000394947.3	-	16	3317	c.3003C>T	c.(3001-3003)atC>atT	p.I1001I	SIN3A_ENST00000360439.4_Silent_p.I1001I|SIN3A_ENST00000394949.4_Silent_p.I1001I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAATGCTCTGGATCAGTTTGT	0.483																																																	0													195.0	146.0	162.0					15																	75682011		2197	4294	6491	SO:0001819	synonymous_variant	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3003C>T	15.37:g.75682011G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.I1001	ENST00000394947.3	37	c.3003	CCDS10279.1	15																																																																																			SIN3A	-	NULL		0.483	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	G	NM_015477		75682011	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	silent	SNP	1.000	A
SIN3B	23309	genome.wustl.edu	37	19	16988416	16988416	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:16988416G>A	ENST00000248054.5	+	17	2941	c.2920G>A	c.(2920-2922)Gag>Aag	p.E974K	SIN3B_ENST00000595541.1_Missense_Mutation_p.E564K|SIN3B_ENST00000379803.1_Missense_Mutation_p.E1006K|SIN3B_ENST00000594235.1_3'UTR					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCGCCCACTGAGGGCTTCCT	0.627																																																	0													87.0	67.0	74.0					19																	16988416		2202	4300	6502	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2920G>A	19.37:g.16988416G>A	ENSP00000248054:p.Glu974Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.E1006K	ENST00000248054.5	37	c.3016		19	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384388	0.61845	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.76;0.76	4.55	4.55	0.56014	.	0.109904	0.64402	D	0.000009	T	0.50820	0.1638	M	0.68317	2.08	0.80722	D	1	P;P;B	0.40909	0.732;0.609;0.286	B;B;B	0.40901	0.171;0.343;0.071	T	0.59768	-0.7392	10	0.62326	D	0.03	-40.4728	16.2806	0.82678	0.0:0.0:1.0:0.0	.	564;974;1006	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	K	1006;974	ENSP00000369131:E1006K;ENSP00000248054:E974K	ENSP00000248054:E974K	E	+	1	0	SIN3B	16849416	1.000000	0.71417	0.901000	0.35422	0.455000	0.32408	7.562000	0.82300	2.082000	0.62665	0.555000	0.69702	GAG	SIN3B	-	NULL		0.627	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	G	NM_015260		16988416	+1	no_errors	ENST00000379803	ensembl	human	known	70_37	missense	SNP	1.000	A
SIPA1L1	26037	genome.wustl.edu	37	14	72169169	72169169	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:72169169G>C	ENST00000555818.1	+	12	3941	c.3593G>C	c.(3592-3594)gGa>gCa	p.G1198A	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G1198A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.G673A|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G1198A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1198					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)		GGTGGCAGCGGAAAATCCACG	0.478																																																	0													124.0	106.0	112.0					14																	72169169		2203	4300	6503	SO:0001583	missense	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.3593G>C	14.37:g.72169169G>C	ENSP00000450832:p.Gly1198Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.G1198A	ENST00000555818.1	37	c.3593	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673290	0.29693	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.02	5.11	0.69529	.	0.164355	0.53938	N	0.000051	T	0.51856	0.1699	L	0.56769	1.78	0.58432	D	0.999991	B;B;B;B;B	0.31274	0.317;0.023;0.212;0.317;0.023	B;B;B;B;B	0.33454	0.164;0.017;0.05;0.107;0.017	T	0.50583	-0.8811	10	0.38643	T	0.18	-16.2315	15.5504	0.76148	0.0:0.1372:0.8628:0.0	.	673;1198;673;1198;1198	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	A	1198;1198;1198;673	ENSP00000370630:G1198A;ENSP00000450832:G1198A;ENSP00000351352:G1198A;ENSP00000440682:G673A	ENSP00000351352:G1198A	G	+	2	0	SIPA1L1	71238922	1.000000	0.71417	0.988000	0.46212	0.046000	0.14306	6.430000	0.73391	1.506000	0.48736	0.650000	0.86243	GGA	SIPA1L1	-	NULL		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72169169	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	C
SIRT4	23409	genome.wustl.edu	37	12	120750316	120750316	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120750316C>G	ENST00000202967.4	+	3	614	c.555C>G	c.(553-555)ttC>ttG	p.F185L	SIRT4_ENST00000537892.1_Intron|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAGCGTTTCCAAGTCCTGA	0.587																																																	0													77.0	80.0	79.0					12																	120750316		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.555C>G	12.37:g.120750316C>G	ENSP00000202967:p.Phe185Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.F185L	ENST00000202967.4	37	c.555	CCDS9194.1	12	.	.	.	.	.	.	.	.	.	.	C	2.117	-0.402292	0.04865	.	.	ENSG00000089163	ENST00000202967	T	0.38887	1.11	4.41	-4.3	0.03710	.	0.149506	0.64402	D	0.000011	T	0.07683	0.0193	N	0.00504	-1.425	0.29889	N	0.825387	B	0.06786	0.001	B	0.09377	0.004	T	0.38950	-0.9637	10	0.02654	T	1	-10.4366	6.1071	0.20079	0.0:0.4211:0.2707:0.3082	.	185	Q9Y6E7	SIRT4_HUMAN	L	185	ENSP00000202967:F185L	ENSP00000202967:F185L	F	+	3	2	SIRT4	119234699	0.154000	0.22792	0.002000	0.10522	0.920000	0.55202	0.144000	0.16135	-0.492000	0.06687	0.585000	0.79938	TTC	SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.587	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120750316	+1	no_errors	ENST00000202967	ensembl	human	known	70_37	missense	SNP	0.015	G
SIRT4	23409	genome.wustl.edu	37	12	120750384	120750384	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120750384C>T	ENST00000202967.4	+	3	682	c.623C>T	c.(622-624)tCa>tTa	p.S208L	SIRT4_ENST00000537892.1_Intron|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTTTCTCTCAGAGGAGCAA	0.582																																																	0													61.0	58.0	59.0					12																	120750384		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.623C>T	12.37:g.120750384C>T	ENSP00000202967:p.Ser208Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.S208L	ENST00000202967.4	37	c.623	CCDS9194.1	12	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088171	0.55968	.	.	ENSG00000089163	ENST00000202967	T	0.15372	2.43	4.5	4.5	0.54988	.	0.275088	0.41396	D	0.000896	T	0.17874	0.0429	L	0.39326	1.205	0.26217	N	0.979214	B	0.14438	0.01	B	0.18561	0.022	T	0.10543	-1.0625	10	0.42905	T	0.14	-9.6234	18.1323	0.89605	0.0:1.0:0.0:0.0	.	208	Q9Y6E7	SIRT4_HUMAN	L	208	ENSP00000202967:S208L	ENSP00000202967:S208L	S	+	2	0	SIRT4	119234767	1.000000	0.71417	0.901000	0.35422	0.968000	0.65278	5.649000	0.67936	2.442000	0.82660	0.585000	0.79938	TCA	SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120750384	+1	no_errors	ENST00000202967	ensembl	human	known	70_37	missense	SNP	0.995	T
SKA2	348235	genome.wustl.edu	37	17	57189557	57189557	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:57189557C>G	ENST00000330137.7	-	0	552				AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000583927.1_5'UTR|SKA2_ENST00000581068.1_3'UTR|SKA2_ENST00000583380.1_3'UTR|SKA2_ENST00000437036.2_3'UTR|SKA2_ENST00000580541.1_3'UTR|SKA2_ENST00000578105.1_3'UTR	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2						cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						CTCTAGACATCAAGGGTTAAC	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	348235			BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.*81G>C	17.37:g.57189557C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIL3|B3KPL3|E9PCB8	RNA	SNP	-	NULL	ENST00000330137.7	37	NULL	CCDS45747.1	17																																																																																			SKA2	-	-		0.383	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA2	HGNC	protein_coding	OTTHUMT00000445939.1	C	NM_182620		57189557	-1	no_errors	ENST00000583927	ensembl	human	known	70_37	rna	SNP	0.002	G
SKIL	6498	genome.wustl.edu	37	3	170078591	170078591	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:170078591C>G	ENST00000458537.3	+	1	1181	c.472C>G	c.(472-474)Caa>Gaa	p.Q158E	SKIL_ENST00000426052.2_Missense_Mutation_p.Q138E|SKIL_ENST00000259119.4_Missense_Mutation_p.Q158E|SKIL_ENST00000413427.2_Missense_Mutation_p.Q158E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	158					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTCTTGTTTTCAAGTTGGAGG	0.433																																																	0													116.0	127.0	123.0					3																	170078591		2203	4300	6503	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.472C>G	3.37:g.170078591C>G	ENSP00000415243:p.Gln158Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.Q158E	ENST00000458537.3	37	c.472	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040269	0.35989	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.42	5.42	0.78866	DNA binding domain, putative (1);Transforming protein Ski (2);	0.263554	0.37393	N	0.002107	T	0.68476	0.3005	N	0.08118	0	0.34589	D	0.715241	P;P	0.39094	0.558;0.659	B;B	0.38755	0.127;0.281	T	0.77861	-0.2430	10	0.44086	T	0.13	-14.453	12.4102	0.55464	0.2833:0.7167:0.0:0.0	.	158;158	P12757-3;P12757	.;SKIL_HUMAN	E	158;138;158;158	ENSP00000259119:Q158E;ENSP00000406520:Q138E;ENSP00000400193:Q158E;ENSP00000415243:Q158E	ENSP00000259119:Q158E	Q	+	1	0	SKIL	171561285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.257000	0.65473	2.565000	0.86533	0.579000	0.79373	CAA	SKIL	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.433	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	C	NM_005414		170078591	+1	no_errors	ENST00000259119	ensembl	human	known	70_37	missense	SNP	1.000	G
SKIV2L2	23517	genome.wustl.edu	37	5	54654485	54654485	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:54654485G>C	ENST00000230640.5	+	15	1872	c.1618G>C	c.(1618-1620)Gat>Cat	p.D540H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D439H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	540	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCTTATGGTAGATGAAAAGAT	0.363																																					Melanoma(2;92 134 23744 29976 33782)												0													103.0	103.0	103.0					5																	54654485		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1618G>C	5.37:g.54654485G>C	ENSP00000230640:p.Asp540His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D540H	ENST00000230640.5	37	c.1618	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997242	0.93167	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.71817	-0.6;-0.6	5.96	5.96	0.96718	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	D	0.86438	0.1765	10	0.87932	D	0	-20.0519	20.422	0.99049	0.0:0.0:1.0:0.0	.	439;540	F5H7E2;P42285	.;SK2L2_HUMAN	H	540;439	ENSP00000230640:D540H;ENSP00000442583:D439H	ENSP00000230640:D540H	D	+	1	0	SKIV2L2	54690242	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.762000	0.98944	2.832000	0.97577	0.655000	0.94253	GAT	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	G			54654485	+1	no_errors	ENST00000230640	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC10A2	6555	genome.wustl.edu	37	13	103698551	103698551	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:103698551C>G	ENST00000245312.3	-	6	1575	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	327					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GTTCCATTTTCTTTGCTCTCT	0.358																																																	0													137.0	117.0	124.0					13																	103698551		2202	4300	6502	SO:0001583	missense	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.979G>C	13.37:g.103698551C>G	ENSP00000245312:p.Glu327Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4F4|Q13839	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.E327Q	ENST00000245312.3	37	c.979	CCDS9506.1	13	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330891	0.24167	.	.	ENSG00000125255	ENST00000245312	T	0.09073	3.02	5.64	1.91	0.25777	.	0.937794	0.09163	N	0.839900	T	0.07279	0.0184	L	0.43923	1.385	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39461	-0.9613	10	0.26408	T	0.33	-4.3501	4.5398	0.12052	0.0:0.5791:0.1619:0.259	.	327	Q12908	NTCP2_HUMAN	Q	327	ENSP00000245312:E327Q	ENSP00000245312:E327Q	E	-	1	0	SLC10A2	102496552	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	0.638000	0.24674	0.943000	0.37553	0.650000	0.86243	GAA	SLC10A2	-	NULL		0.358	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A2	HGNC	protein_coding	OTTHUMT00000045716.1	C			103698551	-1	no_errors	ENST00000245312	ensembl	human	known	70_37	missense	SNP	0.000	G
SLC11A2	4891	genome.wustl.edu	37	12	51382141	51382141	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:51382141C>T	ENST00000262051.7	-	16	1717				SLC11A2_ENST00000547688.1_Silent_p.L580L|SLC11A2_ENST00000546743.1_Silent_p.L472L|SLC11A2_ENST00000262052.5_Silent_p.L551L|SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000394904.3_Silent_p.L580L|SLC11A2_ENST00000545993.2_Silent_p.L547L|SLC11A2_ENST00000541174.2_Silent_p.L551L	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTTCTTCTGTCAGCAGGCCTT	0.473																																																	0													155.0	127.0	136.0					12																	51382141		2203	4300	6503	SO:0001627	intron_variant	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1629+23G>A	12.37:g.51382141C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	p.L580	ENST00000262051.7	37	c.1740	CCDS53792.1	12																																																																																			SLC11A2	-	NULL		0.473	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	C			51382141	-1	no_errors	ENST00000394904	ensembl	human	known	70_37	silent	SNP	0.978	T
SLC12A8	84561	genome.wustl.edu	37	3	124802869	124802869	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:124802869G>A	ENST00000393469.4	-	13	2059	c.2010C>T	c.(2008-2010)atC>atT	p.I670I	SLC12A8_ENST00000469902.1_Silent_p.I670I|SLC12A8_ENST00000314584.7_Silent_p.I331I|SLC12A8_ENST00000430155.2_Silent_p.I471I|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000423114.2_Silent_p.I699I	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	670					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GCGCCAAGATGATCTGCTCCT	0.567																																																	0													38.0	43.0	41.0					3																	124802869		2059	4213	6272	SO:0001819	synonymous_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.2010C>T	3.37:g.124802869G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.I699	ENST00000393469.4	37	c.2097	CCDS43143.1	3																																																																																			SLC12A8	-	NULL		0.567	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	G	NM_024628		124802869	-1	no_errors	ENST00000423114	ensembl	human	known	70_37	silent	SNP	0.725	A
SLC13A5	284111	genome.wustl.edu	37	17	6604421	6604421	+	Silent	SNP	G	G	A	rs138520827		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6604421G>A	ENST00000433363.2	-	6	974	c.741C>T	c.(739-741)ctC>ctT	p.L247L	SLC13A5_ENST00000573648.1_Silent_p.L247L|SLC13A5_ENST00000381074.4_Silent_p.L204L|SLC13A5_ENST00000293800.6_Silent_p.L230L	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	247					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAAAGTTCACGAGGTCCTTGC	0.557																																																	0								G	,	0,4406		0,0,2203	91.0	72.0	79.0		741,741	-8.1	0.0	17	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	247/523,247/569	6604421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.741C>T	17.37:g.6604421G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.L247	ENST00000433363.2	37	c.741	CCDS11079.1	17																																																																																			SLC13A5	-	pfam_Na/sul_symport		0.557	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	HGNC	protein_coding	OTTHUMT00000219853.2	G	NM_177550		6604421	-1	no_errors	ENST00000433363	ensembl	human	known	70_37	silent	SNP	0.003	A
SLC15A2	6565	genome.wustl.edu	37	3	121647222	121647222	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121647222G>A	ENST00000489711.1	+	15	1594				SLC15A2_ENST00000295605.2_Intron|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2						drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTGTATCTGAAGGATTATT	0.428																																																	0													94.0	96.0	95.0					3																	121647222		2203	4300	6503	SO:0001627	intron_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1207-46G>A	3.37:g.121647222G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A5|B4E2A7	RNA	SNP	-	NULL	ENST00000489711.1	37	NULL	CCDS3007.1	3																																																																																			SLC15A2	-	-		0.428	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	G	NM_021082		121647222	+1	no_errors	ENST00000465060	ensembl	human	known	70_37	rna	SNP	0.000	A
SLC17A7	57030	genome.wustl.edu	37	19	49934389	49934389	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49934389C>A	ENST00000221485.3	-	11	1443	c.1272G>T	c.(1270-1272)gtG>gtT	p.V424V	SLC17A7_ENST00000543531.1_Silent_p.V412V|SLC17A7_ENST00000600601.1_Silent_p.V357V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	424					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCAGGTGGTTCACGTTGAACC	0.632																																																	0													82.0	68.0	72.0					19																	49934389		2203	4300	6503	SO:0001819	synonymous_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1272G>T	19.37:g.49934389C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFR9|B4DG46|Q6PCD0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V424	ENST00000221485.3	37	c.1272	CCDS12764.1	19																																																																																			SLC17A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	C			49934389	-1	no_errors	ENST00000221485	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC17A8	246213	genome.wustl.edu	37	12	100813924	100813924	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:100813924C>T	ENST00000323346.5	+	12	2070	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S536L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	586					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAAACTTCTCAACTATATCC	0.438																																																	0													66.0	59.0	61.0					12																	100813924		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1757C>T	12.37:g.100813924C>T	ENSP00000316909:p.Ser586Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S586L	ENST00000323346.5	37	c.1757	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204664	0.22205	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69806	0.01;-0.43	5.16	4.25	0.50352	.	1.551050	0.03648	N	0.240609	T	0.58878	0.2153	L	0.29908	0.895	0.24686	N	0.993336	B;B	0.25609	0.02;0.13	B;B	0.21917	0.016;0.037	T	0.50634	-0.8805	10	0.72032	D	0.01	.	8.8777	0.35356	0.215:0.6496:0.1353:0.0	.	586;536	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	L	586;536	ENSP00000316909:S586L;ENSP00000376715:S536L	ENSP00000316909:S586L	S	+	2	0	SLC17A8	99338055	1.000000	0.71417	0.120000	0.21714	0.053000	0.15095	1.591000	0.36665	1.285000	0.44548	0.543000	0.68304	TCA	SLC17A8	-	NULL		0.438	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100813924	+1	no_errors	ENST00000323346	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC1A5	6510	genome.wustl.edu	37	19	47282071	47282071	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:47282071G>C	ENST00000542575.2	-	5	1547	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	SLC1A5_ENST00000594991.1_Missense_Mutation_p.L131V|SLC1A5_ENST00000412532.2_Missense_Mutation_p.L79V|SLC1A5_ENST00000434726.2_Missense_Mutation_p.L105V	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	307					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	AGGCAGCACAGAATGTACTTG	0.577																																																	0													200.0	168.0	179.0					19																	47282071		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.919C>G	19.37:g.47282071G>C	ENSP00000444408:p.Leu307Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L307V	ENST00000542575.2	37	c.919	CCDS12692.1	19	.	.	.	.	.	.	.	.	.	.	G	0.988	-0.694861	0.03303	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.60171	0.21;0.21;0.21	4.53	-0.407	0.12385	.	0.468395	0.22080	N	0.064915	T	0.24275	0.0588	N	0.10645	0.015	0.26499	N	0.97481	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.24835	-1.0149	10	0.02654	T	1	-25.286	4.2218	0.10561	0.3482:0.3173:0.3345:0.0	.	105;307;307	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	V	307;105;79;314	ENSP00000444408:L307V;ENSP00000406532:L105V;ENSP00000397924:L79V	ENSP00000303623:L314V	L	-	1	2	SLC1A5	51973911	0.964000	0.33143	0.998000	0.56505	0.871000	0.50021	0.282000	0.18829	0.246000	0.21394	0.561000	0.74099	CTG	SLC1A5	-	pfam_Na-dicarboxylate_symporter		0.577	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	G			47282071	-1	no_errors	ENST00000542575	ensembl	human	known	70_37	missense	SNP	0.989	C
SLC1A7	6512	genome.wustl.edu	37	1	53580642	53580642	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:53580642C>G	ENST00000371494.4	-	3	346	c.219G>C	c.(217-219)ttG>ttC	p.L73F	SLC1A7_ENST00000371491.4_Missense_Mutation_p.L73F|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	73					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GTCCGGACATCAAGCTGGGAG	0.667																																					NSCLC(128;80 1811 21245 38490 51715)												0													52.0	45.0	47.0					1																	53580642		2203	4300	6503	SO:0001583	missense	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.219G>C	1.37:g.53580642C>G	ENSP00000360549:p.Leu73Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L73F	ENST00000371494.4	37	c.219	CCDS574.1	1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810432	0.70797	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.64991	-0.13;-0.13	5.58	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	H	0.97131	3.945	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	D	0.86913	0.2062	10	0.87932	D	0	-1.6188	9.8977	0.41329	0.0:0.7428:0.0:0.2572	.	73;73	Q9BW45;O00341	.;EAA5_HUMAN	F	73	ENSP00000360549:L73F;ENSP00000360546:L73F	ENSP00000360546:L73F	L	-	3	2	SLC1A7	53353230	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.406000	0.44557	1.365000	0.46057	0.655000	0.94253	TTG	SLC1A7	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.667	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	C	NM_006671		53580642	-1	no_errors	ENST00000371494	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC22A13	9390	genome.wustl.edu	37	3	38307700	38307700	+	Missense_Mutation	SNP	G	G	A	rs531419747		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:38307700G>A	ENST00000311856.4	+	1	398	c.349G>A	c.(349-351)Gag>Aag	p.E117K	SLC22A13_ENST00000450935.2_Missense_Mutation_p.E76K	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	117					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGAATATCCTGAGAACAGGCT	0.582																																																	0													84.0	86.0	86.0					3																	38307700		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.349G>A	3.37:g.38307700G>A	ENSP00000310241:p.Glu117Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E117K	ENST00000311856.4	37	c.349	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	.	14.84	2.655177	0.47467	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.63913	-0.07;0.85	4.81	2.87	0.33458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.283327	0.38436	N	0.001685	T	0.41789	0.1174	L	0.29908	0.895	0.09310	N	1	B;B	0.23185	0.081;0.04	B;B	0.24848	0.056;0.015	T	0.15350	-1.0440	10	0.11182	T	0.66	.	5.4438	0.16523	0.1656:0.0:0.5813:0.2531	.	117;117	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	K	117;76	ENSP00000310241:E117K;ENSP00000406929:E76K	ENSP00000310241:E117K	E	+	1	0	SLC22A13	38282704	0.278000	0.24230	0.614000	0.29051	0.874000	0.50279	0.742000	0.26216	1.188000	0.43014	0.558000	0.71614	GAG	SLC22A13	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.582	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	G	NM_004256		38307700	+1	no_errors	ENST00000311856	ensembl	human	known	70_37	missense	SNP	0.015	A
SLC22A14	9389	genome.wustl.edu	37	3	38354944	38354944	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:38354944C>G	ENST00000273173.4	+	6	1222	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	SLC22A14_ENST00000448498.1_Silent_p.L377L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	377					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATAGGCAGCTCTGCAAGGTGA	0.582																																																	0													118.0	106.0	110.0					3																	38354944		2203	4300	6503	SO:0001819	synonymous_variant	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1131C>G	3.37:g.38354944C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L377	ENST00000273173.4	37	c.1131	CCDS2677.1	3																																																																																			SLC22A14	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.582	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	C	NM_004803		38354944	+1	no_errors	ENST00000273173	ensembl	human	known	70_37	silent	SNP	0.592	G
SLC24A3	57419	genome.wustl.edu	37	20	19634743	19634743	+	Missense_Mutation	SNP	C	C	T	rs147680736	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:19634743C>T	ENST00000328041.6	+	7	847	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	217					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGGATTCTATTTACTAC	0.512																																																	0													263.0	185.0	212.0					20																	19634743		2203	4300	6503	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.650C>T	20.37:g.19634743C>T	ENSP00000333519:p.Ser217Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.S217F	ENST00000328041.6	37	c.650	CCDS13140.1	20	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853196	0.71719	.	.	ENSG00000185052	ENST00000328041	T	0.61158	0.13	5.77	5.77	0.91146	Sodium/calcium exchanger membrane region (1);	0.051355	0.85682	D	0.000000	T	0.71426	0.3338	L	0.60957	1.885	0.58432	D	0.999999	D	0.61697	0.99	D	0.69479	0.964	T	0.69491	-0.5131	9	.	.	.	.	15.4857	0.75564	0.0:1.0:0.0:0.0	.	217	Q9HC58	NCKX3_HUMAN	F	217	ENSP00000333519:S217F	.	S	+	2	0	SLC24A3	19582743	0.990000	0.36364	0.861000	0.33841	0.774000	0.43823	4.136000	0.58004	2.726000	0.93360	0.643000	0.83706	TCT	SLC24A3	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.512	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19634743	+1	no_errors	ENST00000328041	ensembl	human	known	70_37	missense	SNP	0.979	T
SLC25A22	79751	genome.wustl.edu	37	11	794835	794835	+	Silent	SNP	G	G	A	rs138185663		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:794835G>A	ENST00000320230.5	-	3	568	c.87C>T	c.(85-87)atC>atT	p.I29I	SLC25A22_ENST00000531214.1_Silent_p.I29I	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	29					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCAGGTCGATGGGAAACA	0.647																																					Colon(93;848 1468 3270 23355 49636)												0								G	,,	0,4392		0,0,2196	51.0	45.0	47.0		87,87,87	1.3	1.0	11	dbSNP_134	47	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC25A22	NM_001191060.1,NM_001191061.1,NM_024698.5	,,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,,	29/324,29/324,29/324	794835	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	79751			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.87C>T	11.37:g.794835G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.I29	ENST00000320230.5	37	c.87	CCDS7715.1	11																																																																																			SLC25A22	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.647	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A22	HGNC	protein_coding	OTTHUMT00000257107.2	G			794835	-1	no_errors	ENST00000320230	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC25A4	291	genome.wustl.edu	37	4	186064507	186064507	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:186064507G>A	ENST00000281456.6	+	0	113					NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4						adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	CCTGCGGGCTGAGAGCGTCGA	0.736																																																	0													31.0	26.0	28.0					4																	186064507		1856	3477	5333	SO:0001623	5_prime_UTR_variant	291			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.-20G>A	4.37:g.186064507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP59	RNA	SNP	-	NULL	ENST00000281456.6	37	NULL	CCDS34114.1	4																																																																																			SLC25A4	-	-		0.736	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A4	HGNC	protein_coding	OTTHUMT00000259170.3	G	NM_001151		186064507	+1	no_errors	ENST00000515584	ensembl	human	putative	70_37	rna	SNP	0.227	A
SLC25A44	9673	genome.wustl.edu	37	1	156169884	156169884	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156169884C>T	ENST00000359511.4	+	2	418	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Silent_p.F82F	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	82					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCAATACCTTCACCCTCATCT	0.522																																																	0													115.0	106.0	109.0					1																	156169884		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.246C>T	1.37:g.156169884C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75034	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.F82	ENST00000359511.4	37	c.246	CCDS1133.1	1																																																																																			SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.522	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	C	NM_014655		156169884	+1	no_errors	ENST00000359511	ensembl	human	known	70_37	silent	SNP	0.999	T
SLC25A46	91137	genome.wustl.edu	37	5	110091080	110091080	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:110091080G>C	ENST00000355943.3	+	6	689				SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Intron|SLC25A46_ENST00000509432.1_5'UTR|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000447245.2_Intron	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46						transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		ATTAGAAGTTGATTACTGTTT	0.269																																																	0																																										SO:0001627	intron_variant	91137			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.564-85G>C	5.37:g.110091080G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	RNA	SNP	-	NULL	ENST00000355943.3	37	NULL	CCDS4100.1	5																																																																																			SLC25A46	-	-		0.269	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A46	HGNC	protein_coding	OTTHUMT00000250721.5	G	NM_138773		110091080	+1	no_errors	ENST00000513706	ensembl	human	putative	70_37	rna	SNP	0.000	C
SLC29A1	2030	genome.wustl.edu	37	6	44197428	44197428	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:44197428G>C	ENST00000393841.1	+	5	705	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	SLC29A1_ENST00000371731.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371724.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000313248.7_Missense_Mutation_p.E151Q|SLC29A1_ENST00000371713.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000427851.2_Missense_Mutation_p.E72Q|SLC29A1_ENST00000393844.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371755.3_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371740.5_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371708.1_Missense_Mutation_p.E72Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	72					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	ACCCTTGCCTGAGCGGAACTC	0.557																																																	0													138.0	134.0	135.0					6																	44197428		2203	4300	6503	SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.214G>C	6.37:g.44197428G>C	ENSP00000377424:p.Glu72Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.E151Q	ENST00000393841.1	37	c.451	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887215	0.17540	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.1	3.17	0.36434	.	3.692270	0.00766	N	0.001165	T	0.09423	0.0232	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.28933	0.049;0.228;0.029;0.009	B;B;B;B	0.32022	0.047;0.139;0.021;0.009	T	0.22173	-1.0224	10	0.23891	T	0.37	-19.5516	4.7311	0.12964	0.3356:0.0:0.6644:0.0	.	72;91;151;72	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	Q	91;72;151;72;72;72;72;72;72;72;72	ENSP00000377427:E72Q;ENSP00000319152:E151Q;ENSP00000392668:E72Q;ENSP00000360820:E72Q;ENSP00000360805:E72Q;ENSP00000360796:E72Q;ENSP00000377424:E72Q;ENSP00000360789:E72Q;ENSP00000360778:E72Q;ENSP00000360773:E72Q	ENSP00000319152:E151Q	E	+	1	0	SLC29A1	44305406	0.008000	0.16893	0.003000	0.11579	0.076000	0.17211	1.505000	0.35736	1.376000	0.46267	0.563000	0.77884	GAG	SLC29A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.557	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	G			44197428	+1	no_errors	ENST00000313248	ensembl	human	known	70_37	missense	SNP	0.001	C
SLC29A1	2030	genome.wustl.edu	37	6	44197920	44197920	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:44197920G>A	ENST00000393841.1	+	6	945				SLC29A1_ENST00000371731.1_Intron|SLC29A1_ENST00000371724.1_Intron|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000313248.7_Intron|SLC29A1_ENST00000371713.1_Intron|SLC29A1_ENST00000427851.2_Intron|SLC29A1_ENST00000393844.1_Intron|SLC29A1_ENST00000371755.3_Intron|SLC29A1_ENST00000371740.5_Intron|SLC29A1_ENST00000371708.1_Intron	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1						cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CTGGGATTCAGAGGCCTGAGT	0.592																																																	0																																										SO:0001627	intron_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.454+137G>A	6.37:g.44197920G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	RNA	SNP	-	NULL	ENST00000393841.1	37	NULL	CCDS4908.1	6																																																																																			SLC29A1	-	-		0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	G			44197920	+1	no_errors	ENST00000472176	ensembl	human	known	70_37	rna	SNP	0.159	A
SLC29A3	55315	genome.wustl.edu	37	10	73122362	73122362	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:73122362C>G	ENST00000373189.5	+	6	1477	c.1425C>G	c.(1423-1425)atC>atG	p.I475M		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	475					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCACCTCATCTAGAAGGGAG	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													81.0	59.0	66.0					10																	73122362		2203	4300	6503	SO:0001583	missense	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1425C>G	10.37:g.73122362C>G	ENSP00000362285:p.Ile475Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.I475M	ENST00000373189.5	37	c.1425	CCDS7310.1	10	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482586	0.44147	.	.	ENSG00000198246	ENST00000373189	T	0.61742	0.08	5.47	4.56	0.56223	.	0.058758	0.64402	D	0.000002	T	0.66557	0.2801	M	0.83012	2.62	0.45930	D	0.998760	D	0.55800	0.973	P	0.52189	0.692	T	0.78565	-0.2155	9	0.87932	D	0	.	7.4981	0.27500	0.1221:0.6897:0.1186:0.0696	.	475	Q9BZD2	S29A3_HUMAN	M	475	ENSP00000362285:I475M	ENSP00000362285:I475M	I	+	3	3	SLC29A3	72792368	0.997000	0.39634	1.000000	0.80357	0.403000	0.30841	0.552000	0.23376	2.588000	0.87417	0.655000	0.94253	ATC	SLC29A3	-	NULL		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	C	NM_018344		73122362	+1	no_errors	ENST00000373189	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC30A10	55532	genome.wustl.edu	37	1	220091631	220091631	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:220091631C>T	ENST00000366926.3	-	3	1085	c.924G>A	c.(922-924)caG>caA	p.Q308Q	SLC30A10_ENST00000536446.1_Silent_p.Q63Q|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	308					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGGGACCATCTGTAGCAGAA	0.463																																					Colon(76;360 1614 43677 51136)												0													146.0	150.0	149.0					1																	220091631		2203	4300	6503	SO:0001819	synonymous_variant	55532			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.924G>A	1.37:g.220091631C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AL9|Q9NPW0	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.Q308	ENST00000366926.3	37	c.924	CCDS31026.1	1																																																																																			SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.463	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	C	NM_018713		220091631	-1	no_errors	ENST00000366926	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC35A1	10559	genome.wustl.edu	37	6	88218210	88218210	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:88218210C>T	ENST00000369552.4	+	6	674	c.647C>T	c.(646-648)tCa>tTa	p.S216L	SLC35A1_ENST00000369556.3_Intron|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Missense_Mutation_p.S82L	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	216					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGTATCTATCAGGGATTATT	0.318																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)												0													90.0	92.0	92.0					6																	88218210		2202	4298	6500	SO:0001583	missense	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.647C>T	6.37:g.88218210C>T	ENSP00000358565:p.Ser216Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W1L8	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.S216L	ENST00000369552.4	37	c.647	CCDS5010.1	6	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753302	0.69648	.	.	ENSG00000164414	ENST00000544441;ENST00000369552	T;T	0.39406	1.08;1.08	5.88	5.02	0.67125	.	0.000000	0.85682	U	0.000000	T	0.21103	0.0508	N	0.13352	0.335	0.80722	D	1	P;B	0.45348	0.856;0.023	P;B	0.46718	0.525;0.002	T	0.05084	-1.0907	10	0.35671	T	0.21	-45.7844	15.1945	0.73075	0.0:0.9325:0.0:0.0675	.	216;82	P78382;B4DEM1	S35A1_HUMAN;.	L	82;216	ENSP00000438603:S82L;ENSP00000358565:S216L	ENSP00000358565:S216L	S	+	2	0	SLC35A1	88274929	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.412000	0.80091	1.502000	0.48669	0.561000	0.74099	TCA	SLC35A1	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.318	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A1	HGNC	protein_coding	OTTHUMT00000041446.1	C			88218210	+1	no_errors	ENST00000369552	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC35B1	10237	genome.wustl.edu	37	17	47781577	47781577	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:47781577C>T	ENST00000240333.6	-	6	661	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SLC35B1_ENST00000415270.2_Silent_p.L217L			P78383	S35B1_HUMAN	solute carrier family 35, member B1	180					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CATCCAGGGTCAGCGATAATA	0.532																																																	0													143.0	126.0	132.0					17																	47781577		2203	4300	6503	SO:0001819	synonymous_variant	10237			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.540G>A	17.37:g.47781577C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEC4|J3KQV4|Q96EW7	Silent	SNP	pfam_UAA,pfam_DMT,pfam_DUF250	p.L217	ENST00000240333.6	37	c.651	CCDS11552.1	17																																																																																			SLC35B1	-	pfam_UAA		0.532	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	C	NM_005827		47781577	-1	no_errors	ENST00000415270	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC36A2	153201	genome.wustl.edu	37	5	150714911	150714911	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150714911G>A	ENST00000335244.4	-	6	852	c.723C>T	c.(721-723)atC>atT	p.I241I	SLC36A2_ENST00000450886.1_5'Flank|SLC36A2_ENST00000521967.1_Silent_p.I241I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	241					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ACTGTATGATGATGACCAAGC	0.522																																																	0													133.0	119.0	123.0					5																	150714911		2203	4300	6503	SO:0001819	synonymous_variant	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.723C>T	5.37:g.150714911G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	pfam_AA_transpt_TM	p.I241	ENST00000335244.4	37	c.723	CCDS4315.1	5																																																																																			SLC36A2	-	pfam_AA_transpt_TM		0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	G			150714911	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC38A11	151258	genome.wustl.edu	37	2	165755097	165755097	+	Silent	SNP	G	G	A	rs146184099		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:165755097G>A	ENST00000409149.3	-	11	1362	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000303735.4_Silent_p.F335F|SLC38A11_ENST00000409058.1_Silent_p.F388F|SLC38A11_ENST00000409662.1_Silent_p.F357F	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	357					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TAGCCATGACGAATCCAAAAA	0.433																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	126.0	111.0	116.0		1071,1005	1.6	1.0	2	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC38A11	NM_001199148.1,NM_173512.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	357/407,335/385	165755097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1071C>T	2.37:g.165755097G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF99|Q8N887	Silent	SNP	pfam_AA_transpt_TM	p.F357	ENST00000409149.3	37	c.1071	CCDS56142.1	2																																																																																			SLC38A11	-	pfam_AA_transpt_TM		0.433	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	HGNC	protein_coding	OTTHUMT00000333390.1	G	NM_173512		165755097	-1	no_errors	ENST00000409149	ensembl	human	known	70_37	silent	SNP	0.990	A
SLC39A8	64116	genome.wustl.edu	37	4	103226232	103226232	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:103226232C>G	ENST00000394833.2	-	4	1065	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000424970.2_Missense_Mutation_p.E197Q|SLC39A8_ENST00000356736.4_Missense_Mutation_p.E197Q	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	197					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACTGCCTTCTCAACATAACTG	0.333																																																	0													72.0	72.0	72.0					4																	103226232		2203	4300	6503	SO:0001583	missense	64116				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.589G>C	4.37:g.103226232C>G	ENSP00000378310:p.Glu197Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	pfam_ZIP	p.E197Q	ENST00000394833.2	37	c.589	CCDS3656.1	4	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772891	0.49680	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.47869	0.83;0.83;0.83	5.26	5.26	0.73747	.	0.403189	0.25164	N	0.032651	T	0.41119	0.1145	N	0.19112	0.55	0.31854	N	0.621809	P;P;P	0.48089	0.905;0.773;0.713	P;P;P	0.49047	0.599;0.53;0.477	T	0.44832	-0.9302	10	0.30078	T	0.28	-28.2181	13.5894	0.61951	0.0:0.8444:0.1556:0.0	.	197;197;130	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	Q	197	ENSP00000394548:E197Q;ENSP00000349174:E197Q;ENSP00000378310:E197Q	ENSP00000349174:E197Q	E	-	1	0	SLC39A8	103445255	0.740000	0.28207	1.000000	0.80357	0.902000	0.53008	1.158000	0.31737	2.469000	0.83416	0.655000	0.94253	GAG	SLC39A8	-	pfam_ZIP		0.333	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	C	NM_022154		103226232	-1	no_errors	ENST00000356736	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC41A2	84102	genome.wustl.edu	37	12	105321797	105321797	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:105321797G>A	ENST00000258538.3	-	1	636	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	170					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TCCAAAACCAGCTAGCAAAAA	0.388																																					Esophageal Squamous(195;176 2919 4272 35572)												0													158.0	136.0	144.0					12																	105321797		2203	4300	6503	SO:0001583	missense	84102			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.509C>T	12.37:g.105321797G>A	ENSP00000258538:p.Ala170Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KP68|Q9H0E5	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr	p.A170V	ENST00000258538.3	37	c.509	CCDS9100.2	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026462	0.93518	.	.	ENSG00000136052	ENST00000258538	T	0.32023	1.47	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.88377	2.95	0.80722	D	1	P	0.38535	0.635	B	0.32805	0.153	T	0.54675	-0.8258	10	0.62326	D	0.03	-23.44	20.8598	0.99761	0.0:0.0:1.0:0.0	.	170	Q96JW4	S41A2_HUMAN	V	170	ENSP00000258538:A170V	ENSP00000258538:A170V	A	-	2	0	SLC41A2	103845927	1.000000	0.71417	0.948000	0.38648	0.858000	0.48976	8.614000	0.90917	2.937000	0.99478	0.650000	0.86243	GCT	SLC41A2	-	NULL		0.388	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A2	HGNC	protein_coding	OTTHUMT00000346850.3	G	NM_032148		105321797	-1	no_errors	ENST00000258538	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC44A2	57153	genome.wustl.edu	37	19	10754001	10754001	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10754001C>T	ENST00000335757.5	+	22	2437	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	SLC44A2_ENST00000407327.4_Silent_p.F685F|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	687					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCTTACTTCATGTCTTCCA	0.612																																																	0													48.0	43.0	44.0					19																	10754001		2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2061C>T	19.37:g.10754001C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	pfam_Choline_transptr-like	p.F687	ENST00000335757.5	37	c.2061	CCDS12245.1	19																																																																																			SLC44A2	-	NULL		0.612	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	C			10754001	+1	no_errors	ENST00000335757	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC5A12	159963	genome.wustl.edu	37	11	26732861	26732861	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:26732861G>A	ENST00000396005.3	-	3	759	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SLC5A12_ENST00000280467.6_Silent_p.L150L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	150					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CACCTTGATTGAGTGCCAGGG	0.408																																																	0													84.0	76.0	78.0					11																	26732861		2203	4299	6502	SO:0001819	synonymous_variant	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.450C>T	11.37:g.26732861G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UC7	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L150	ENST00000396005.3	37	c.450	CCDS7860.2	11																																																																																			SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	G	NM_178498		26732861	-1	no_errors	ENST00000396005	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC5A5	6528	genome.wustl.edu	37	19	18004651	18004651	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18004651G>A	ENST00000222248.3	+	15	2244	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	633					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGTTGGACATGATGGTGGTCG	0.607																																					Melanoma(65;1008 1708 7910 46650)												0													30.0	28.0	29.0					19																	18004651		2203	4297	6500	SO:0001583	missense	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1897G>A	19.37:g.18004651G>A	ENSP00000222248:p.Asp633Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D633N	ENST00000222248.3	37	c.1897	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875177	0.33162	.	.	ENSG00000105641	ENST00000222248	D	0.85484	-1.99	3.27	2.1	0.27182	.	2.811090	0.01815	N	0.033677	T	0.77478	0.4136	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.60667	-0.7218	10	0.07482	T	0.82	.	7.7677	0.28988	0.0:0.2606:0.7394:0.0	.	633	Q92911	SC5A5_HUMAN	N	633	ENSP00000222248:D633N	ENSP00000222248:D633N	D	+	1	0	SLC5A5	17865651	0.017000	0.18338	0.002000	0.10522	0.021000	0.10359	1.107000	0.31110	1.846000	0.53633	0.485000	0.47835	GAT	SLC5A5	-	NULL		0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	G			18004651	+1	no_errors	ENST00000222248	ensembl	human	known	70_37	missense	SNP	0.001	A
SLC5A6	8884	genome.wustl.edu	37	2	27424300	27424300	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27424300G>C	ENST00000310574.3	-	15	2039	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Missense_Mutation_p.F522L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	522					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	ACAAGGAATAGAACCGCTGCA	0.522																																																	0													89.0	82.0	84.0					2																	27424300		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1566C>G	2.37:g.27424300G>C	ENSP00000310208:p.Phe522Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F522L	ENST00000310574.3	37	c.1566	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	G	4.433	0.080057	0.08533	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	T;T	0.61859	0.07;0.07	5.05	4.17	0.49024	.	0.723159	0.14214	N	0.333872	T	0.30198	0.0757	N	0.04275	-0.24	0.52501	D	0.999952	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.02654	T	1	.	11.1398	0.48396	0.0892:0.0:0.9108:0.0	.	522	Q9Y289	SC5A6_HUMAN	L	522	ENSP00000310208:F522L;ENSP00000384853:F522L	ENSP00000310208:F522L	F	-	3	2	SLC5A6	27277804	1.000000	0.71417	0.752000	0.31206	0.071000	0.16799	2.305000	0.43664	1.353000	0.45828	0.650000	0.86243	TTC	SLC5A6	-	NULL		0.522	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27424300	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC5A6	8884	genome.wustl.edu	37	2	27430367	27430367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27430367C>T	ENST00000310574.3	-	3	625	c.152G>A	c.(151-153)tGg>tAg	p.W51*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.W51*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	51					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	ATGCCGGCCCCAGCCACGACA	0.602																																																	0													123.0	102.0	109.0					2																	27430367		2203	4300	6503	SO:0001587	stop_gained	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.152G>A	2.37:g.27430367C>T	ENSP00000310208:p.Trp51*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB85|D6W549|Q969Y5	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.W51*	ENST00000310574.3	37	c.152	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854082	0.71719	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106;ENST00000426119;ENST00000414408;ENST00000428518	.	.	.	5.67	5.67	0.87782	.	0.128799	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.2723	0.87105	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000310208:W51X	W	-	2	0	SLC5A6	27283871	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	4.902000	0.63266	2.667000	0.90743	0.563000	0.77884	TGG	SLC5A6	-	pfscan_Na/solute_symporter		0.602	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	C	NM_021095		27430367	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC9A5	6553	genome.wustl.edu	37	16	67283103	67283103	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67283103C>T	ENST00000299798.11	+	1	251	c.186C>T	c.(184-186)atC>atT	p.I62I	SLC9A5_ENST00000561472.2_3'UTR|FHOD1_ENST00000258201.4_5'Flank	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	62					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGCCAAAATCGGTGAGTGCG	0.682																																																	0													33.0	48.0	43.0					16																	67283103		2044	4186	6230	SO:0001630	splice_region_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.187+1C>T	16.37:g.67283103C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.I62	ENST00000299798.11	37	c.186	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.682	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	C		Silent	67283103	+1	no_errors	ENST00000299798	ensembl	human	known	70_37	silent	SNP	0.977	T
SLC9A5	6553	genome.wustl.edu	37	16	67290582	67290582	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67290582C>T	ENST00000299798.11	+	6	1187	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	374					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCCTGTTCTTCCGAGCCCTCG	0.577																																																	0													155.0	156.0	156.0					16																	67290582		2096	4213	6309	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1122C>T	16.37:g.67290582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F374	ENST00000299798.11	37	c.1122	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.577	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	C			67290582	+1	no_errors	ENST00000299798	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC7A5	8140	genome.wustl.edu	37	16	87902738	87902738	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:87902738G>A	ENST00000261622.4	-	1	356	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	97					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GCGCGCCCACGATGGAGAAGA	0.701																																																	0													24.0	27.0	26.0					16																	87902738		2195	4295	6490	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.291C>T	16.37:g.87902738G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.I97	ENST00000261622.4	37	c.291	CCDS10964.1	16																																																																																			SLC7A5	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.701	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	G	NM_003486		87902738	-1	no_errors	ENST00000261622	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC9C1	285335	genome.wustl.edu	37	3	111927180	111927180	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:111927180C>G	ENST00000305815.5	-	16	2083	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E563Q	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	611	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TCAAATTCCTCAGTAAATACT	0.274																																																	0													75.0	89.0	84.0					3																	111927180		2195	4288	6483	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1831G>C	3.37:g.111927180C>G	ENSP00000306627:p.Glu611Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.E611Q	ENST00000305815.5	37	c.1831	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286736	0.23478	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.76578	-1.03;-1.03	5.72	2.94	0.34122	.	0.873627	0.10086	N	0.717745	T	0.73992	0.3658	N	0.14661	0.345	0.21984	N	0.99943	D;P	0.56746	0.977;0.627	P;B	0.59221	0.854;0.196	T	0.61836	-0.6981	10	0.62326	D	0.03	-0.8615	7.743	0.28851	0.0:0.7336:0.0:0.2664	.	563;611	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	611;563	ENSP00000306627:E611Q;ENSP00000420688:E563Q	ENSP00000306627:E611Q	E	-	1	0	SLC9A10	113409870	0.970000	0.33590	0.687000	0.30102	0.065000	0.16274	1.212000	0.32394	0.426000	0.26116	0.650000	0.86243	GAG	SLC9C1	-	NULL		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	C	NM_183061		111927180	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.981	G
SLCO3A1	28232	genome.wustl.edu	37	15	92706005	92706005	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:92706005C>T	ENST00000318445.6	+	10	1987	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.L591L|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	591					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCCACCCCTCATCTTCGGGG	0.562																																																	0													50.0	47.0	48.0					15																	92706005		2198	4298	6496	SO:0001819	synonymous_variant	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1773C>T	15.37:g.92706005C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L591	ENST00000318445.6	37	c.1773	CCDS10371.1	15																																																																																			SLCO3A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	C	NM_013272		92706005	+1	no_errors	ENST00000318445	ensembl	human	known	70_37	silent	SNP	1.000	T
SLITRK3	22865	genome.wustl.edu	37	3	164907799	164907799	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:164907799C>T	ENST00000475390.1	-	2	1263	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E274K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	274	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCCTGATTTCTCGTAGGTCC	0.483										HNSCC(40;0.11)																																							0													120.0	124.0	122.0					3																	164907799		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.820G>A	3.37:g.164907799C>T	ENSP00000420091:p.Glu274Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E274K	ENST00000475390.1	37	c.820	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296243	0.81025	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.56776	0.44;0.44	5.61	5.61	0.85477	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38837	N	0.001546	T	0.63283	0.2498	M	0.68728	2.09	0.58432	D	0.999999	D	0.55172	0.97	P	0.49332	0.607	T	0.66756	-0.5843	10	0.62326	D	0.03	-15.6531	19.6276	0.95684	0.0:1.0:0.0:0.0	.	274	O94933	SLIK3_HUMAN	K	274	ENSP00000420091:E274K;ENSP00000241274:E274K	ENSP00000241274:E274K	E	-	1	0	SLITRK3	166390493	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GAA	SLITRK3	-	smart_Cys-rich_flank_reg_C		0.483	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	C	NM_014926		164907799	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	missense	SNP	1.000	T
SLTM	79811	genome.wustl.edu	37	15	59191016	59191016	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:59191016G>C	ENST00000380516.2	-	8	1181	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_De_novo_Start_OutOfFrame	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	365					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCATCTTTAGATGATGTCTT	0.323																																																	0													77.0	78.0	78.0					15																	59191016		2192	4292	6484	SO:0001583	missense	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1094C>G	15.37:g.59191016G>C	ENSP00000369887:p.Ser365Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.S365C	ENST00000380516.2	37	c.1094	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916420	0.33815	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.89050	-2.46;-2.46	5.58	5.58	0.84498	.	0.000000	0.50627	D	0.000116	D	0.93572	0.7948	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.93087	0.6496	10	0.54805	T	0.06	.	19.922	0.97089	0.0:0.0:1.0:0.0	.	365	Q9NWH9	SLTM_HUMAN	C	365;347	ENSP00000369887:S365C;ENSP00000249736:S347C	ENSP00000249736:S347C	S	-	2	0	SLTM	56978308	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.278000	0.65592	2.780000	0.95670	0.655000	0.94253	TCT	SLTM	-	NULL		0.323	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	G	NM_024755		59191016	-1	no_errors	ENST00000380516	ensembl	human	known	70_37	missense	SNP	1.000	C
SMAD3	4088	genome.wustl.edu	37	15	67457307	67457307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:67457307G>A	ENST00000327367.4	+	2	591	c.281G>A	c.(280-282)tGg>tAg	p.W94*	SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000559092.1_Missense_Mutation_p.G76S|SMAD3_ENST00000439724.3_Nonsense_Mutation_p.W50*|SMAD3_ENST00000540846.2_5'UTR	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	94	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGTGGCGATGGCCAGACCTG	0.612																																																	0													102.0	109.0	106.0					15																	67457307		2201	4299	6500	SO:0001587	stop_gained	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.281G>A	15.37:g.67457307G>A	ENSP00000332973:p.Trp94*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.W94*	ENST00000327367.4	37	c.281	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.408206	0.97542	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000439724	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1514	0.86779	0.0:0.0:1.0:0.0	.	.	.	.	X	94;94;50	.	ENSP00000332973:W94X	W	+	2	0	SMAD3	65244361	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.421000	0.97455	2.270000	0.75569	0.561000	0.74099	TGG	SMAD3	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.612	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	G	NM_005902		67457307	+1	no_errors	ENST00000327367	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SMAD4	4089	genome.wustl.edu	37	18	48591955	48591955	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:48591955C>G	ENST00000342988.3	+	9	1656	c.1118C>G	c.(1117-1119)aCa>aGa	p.T373R	SMAD4_ENST00000398417.2_Missense_Mutation_p.T373R|SMAD4_ENST00000588745.1_Missense_Mutation_p.T277R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	373	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTCCACAGGACAGAAGCCATT	0.403																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											101.0	85.0	90.0					18																	48591955		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1118C>G	18.37:g.48591955C>G	ENSP00000341551:p.Thr373Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.T373R	ENST00000342988.3	37	c.1118	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014280	0.93404	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97114	-4.25;-4.25	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	373	Q13485	SMAD4_HUMAN	R	373	ENSP00000341551:T373R;ENSP00000381452:T373R	ENSP00000341551:T373R	T	+	2	0	SMAD4	46845953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.672000	0.83956	2.771000	0.95319	0.563000	0.77884	ACA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.403	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48591955	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	G
SMAGP	57228	genome.wustl.edu	37	12	51639742	51639742	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:51639742C>G	ENST00000603798.1	-	4	949	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	DAZAP2_ENST00000425012.2_Intron|SMAGP_ENST00000603864.1_Missense_Mutation_p.E93Q|DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000398453.3_Missense_Mutation_p.E93Q|SMAGP_ENST00000605627.1_Missense_Mutation_p.E79Q	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	93						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)											AAATATTCCTCTTTCTCGCTG	0.493																																																	0													118.0	115.0	116.0					12																	51639742		1986	4164	6150	SO:0001583	missense	57228				CCDS44889.1	12q13.13	2010-02-17			ENSG00000170545	ENSG00000170545			26918	protein-coding gene	gene with protein product	"""small trans-membrane and glycosylated protein"""					15021913	Standard	NM_001031628		Approved	MGC149453, MGC149454, hSMAGP	uc001rye.1	Q0VAQ4		ENST00000603798.1:c.277G>C	12.37:g.51639742C>G	ENSP00000475068:p.Glu93Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIL5	Missense_Mutation	SNP	NULL	p.E93Q	ENST00000603798.1	37	c.277	CCDS44889.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048924	0.75846	.	.	ENSG00000170545	ENST00000380103;ENST00000398453	T	0.78003	-1.14	5.28	5.28	0.74379	.	0.143577	0.29066	U	0.013241	D	0.85362	0.5679	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.86384	0.1731	9	0.72032	D	0.01	-15.6467	11.553	0.50731	0.0:0.9168:0.0:0.0832	.	93	Q0VAQ4	SMAGP_HUMAN	Q	93	ENSP00000381471:E93Q	ENSP00000369446:E93Q	E	-	1	0	SMAGP	49926009	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.198000	0.58419	2.644000	0.89710	0.655000	0.94253	GAG	SMAGP	-	NULL		0.493	SMAGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAGP	HGNC	protein_coding	OTTHUMT00000469789.1	C	NM_020467		51639742	-1	no_errors	ENST00000380103	ensembl	human	known	70_37	missense	SNP	1.000	G
SMARCA4	6597	genome.wustl.edu	37	19	11170754	11170754	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11170754G>A	ENST00000429416.3	+	35	5083	c.4802G>A	c.(4801-4803)cGg>cAg	p.R1601Q	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1570Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1601Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1571Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1570Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1633Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1571Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1568Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1567Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1601					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGCTTGGCCGGAAGGAGAAG	0.657			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											17.0	16.0	16.0					19																	11170754		2127	4164	6291	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4802G>A	19.37:g.11170754G>A	ENSP00000395654:p.Arg1601Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1633Q	ENST00000429416.3	37	c.4898	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387236	0.82902	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D	0.86562	-2.12;-2.12;-2.12;-2.12;-2.14;-2.14	4.48	3.44	0.39384	.	0.000000	0.64402	D	0.000001	D	0.87920	0.6299	L	0.36672	1.1	0.43095	D	0.994771	P;P;P;D;P;P	0.64830	0.9;0.9;0.9;0.994;0.9;0.944	B;B;B;P;B;B	0.61201	0.281;0.281;0.281;0.885;0.281;0.281	D	0.88169	0.2863	10	0.66056	D	0.02	-36.2525	11.3132	0.49377	0.0909:0.0:0.9091:0.0	.	1570;1567;1568;1633;1571;1601	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	Q	1601;1633;1635;1601;1568;1567;1570;1571	ENSP00000395654:R1601Q;ENSP00000350720:R1633Q;ENSP00000343896:R1601Q;ENSP00000392837:R1567Q;ENSP00000397783:R1570Q;ENSP00000414727:R1571Q	ENSP00000343896:R1601Q	R	+	2	0	SMARCA4	11031754	1.000000	0.71417	0.933000	0.37362	0.994000	0.84299	6.284000	0.72652	1.102000	0.41551	0.561000	0.74099	CGG	SMARCA4	-	NULL		0.657	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11170754	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	0.998	A
SMC6	79677	genome.wustl.edu	37	2	17906593	17906593	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:17906593C>A	ENST00000448223.2	-	9	926	c.657G>T	c.(655-657)atG>atT	p.M219I	SMC6_ENST00000381272.4_Missense_Mutation_p.M245I|SMC6_ENST00000402989.1_Missense_Mutation_p.M219I|SMC6_ENST00000351948.4_Missense_Mutation_p.M219I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	219					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATCTTCCTTCATCTGTTCAA	0.303																																																	0													137.0	114.0	122.0					2																	17906593		2203	4296	6499	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.657G>T	2.37:g.17906593C>A	ENSP00000404092:p.Met219Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.M245I	ENST00000448223.2	37	c.735	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669810	0.88348	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.35723	1.085	0.58432	D	0.999996	P;B;P	0.42908	0.754;0.067;0.793	P;B;P	0.49953	0.493;0.051;0.627	T	0.12785	-1.0534	10	0.22706	T	0.39	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	245;245;219	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	I	219;219;245;219;245	ENSP00000404092:M219I;ENSP00000323439:M219I;ENSP00000370672:M245I;ENSP00000384539:M219I;ENSP00000408644:M245I	ENSP00000323439:M219I	M	-	3	0	SMC6	17770074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.170000	0.71920	2.880000	0.98712	0.650000	0.86243	ATG	SMC6	-	NULL		0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	C	NM_024624		17906593	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	1.000	A
SMCR2	140768	genome.wustl.edu	37	17	17579606	17579606	+	lincRNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:17579606G>A	ENST00000456090.2	-	0	193									Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)																		ATTCTATCCTGAAATACACCC	0.537																																																	0																																												140768			AI821758		17p11.2	2012-10-16	2011-06-10		ENSG00000223979	ENSG00000223979		"""Long non-coding RNAs"""	17914	non-coding RNA	RNA, long non-coding			"""Smith-Magenis syndrome chromosome region, candidate 2"""			11997338	Standard			Approved				OTTHUMG00000059291		17.37:g.17579606G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000456090.2	37	NULL		17																																																																																			SMCR2	-	-		0.537	SMCR2-001	KNOWN	basic	lincRNA	SMCR2	HGNC	lincRNA	OTTHUMT00000131667.2	G			17579606	-1	no_errors	ENST00000456090	ensembl	human	known	70_37	rna	SNP	0.000	A
MIEF1	54471	genome.wustl.edu	37	22	39910250	39910250	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:39910250C>T	ENST00000325301.2	+	6	1738	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	MIEF1_ENST00000404569.1_Silent_p.L438L|MIEF1_ENST00000402881.1_Intron	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	438					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TTGCAGAGCTCACCCCTGAAG	0.537											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128.0	127.0	127.0					22																	39910250		2203	4300	6503	SO:0001819	synonymous_variant	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1314C>T	22.37:g.39910250C>T		Somatic	889	WXS	Illumina HiSeq	Phase_IV	Q7L890|Q9BUI3	Silent	SNP	NULL	p.L438	ENST00000325301.2	37	c.1314	CCDS13995.1	22																																																																																			SMCR7L	-	NULL		0.537	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	C	NM_019008		39910250	+1	no_errors	ENST00000325301	ensembl	human	known	70_37	silent	SNP	0.998	T
SMG5	23381	genome.wustl.edu	37	1	156219817	156219817	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156219817C>G	ENST00000361813.5	-	0	3756				SMG5_ENST00000368267.5_Intron|PAQR6_ENST00000492619.1_5'Flank|PAQR6_ENST00000335852.1_5'Flank|PAQR6_ENST00000368270.1_5'Flank|PAQR6_ENST00000356983.2_5'Flank|PAQR6_ENST00000540423.1_5'Flank|PAQR6_ENST00000292291.5_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor						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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCTTGCTTCTCTAACAGCCCC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.*561G>C	1.37:g.156219817C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	RNA	SNP	-	NULL	ENST00000361813.5	37	NULL	CCDS1137.1	1																																																																																			SMG5	-	-		0.612	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	C	NM_015327		156219817	-1	no_errors	ENST00000462362	ensembl	human	known	70_37	rna	SNP	0.000	G
SMG5	23381	genome.wustl.edu	37	1	156220033	156220033	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156220033C>T	ENST00000361813.5	-	0	3540				SMG5_ENST00000368267.5_Intron|PAQR6_ENST00000492619.1_5'Flank|PAQR6_ENST00000335852.1_5'Flank|PAQR6_ENST00000368270.1_5'Flank|PAQR6_ENST00000356983.2_5'Flank|PAQR6_ENST00000540423.1_5'Flank|PAQR6_ENST00000292291.5_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor						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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GCTGTTCCTTCCCCTCAGAGA	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.*345G>A	1.37:g.156220033C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	RNA	SNP	-	NULL	ENST00000361813.5	37	NULL	CCDS1137.1	1																																																																																			SMG5	-	-		0.577	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	C	NM_015327		156220033	-1	no_errors	ENST00000462362	ensembl	human	known	70_37	rna	SNP	0.828	T
SMG6	23293	genome.wustl.edu	37	17	1989089	1989089	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1989089G>A	ENST00000263073.6	-	14	3514	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	SMG6_ENST00000544865.1_Missense_Mutation_p.S1124L|SMG6_ENST00000354901.4_Missense_Mutation_p.S247L|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Missense_Mutation_p.S247L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1155					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGTGCCACTGACACATACTT	0.537																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													275.0	261.0	265.0					17																	1989089		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3464C>T	17.37:g.1989089G>A	ENSP00000263073:p.Ser1155Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.S1155L	ENST00000263073.6	37	c.3464	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160297	0.57368	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.22539	2.73;2.73;1.95	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.37517	0.1006	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.10730	-1.0617	10	0.72032	D	0.01	-3.1434	20.3409	0.98764	0.0:0.0:1.0:0.0	.	1155	Q86US8	EST1A_HUMAN	L	1155;1124;66;247	ENSP00000263073:S1155L;ENSP00000443920:S1124L;ENSP00000440283:S247L	ENSP00000263073:S1155L	S	-	2	0	SMG6	1935839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	TCA	SMG6	-	NULL		0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			1989089	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	A
SMG6	23293	genome.wustl.edu	37	17	2201213	2201213	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:2201213G>A	ENST00000263073.6	-	3	2034	c.1984C>T	c.(1984-1986)Ccg>Tcg	p.P662S	SMG6_ENST00000544865.1_Missense_Mutation_p.P631S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	662					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCAACATTCGGATCCTTGACA	0.408																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													131.0	123.0	126.0					17																	2201213		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1984C>T	17.37:g.2201213G>A	ENSP00000263073:p.Pro662Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.P662S	ENST00000263073.6	37	c.1984	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112732	0.56398	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.20881	2.04;2.04	5.53	3.44	0.39384	Telomerase activating protein Est1 (1);	0.058619	0.64402	D	0.000001	T	0.13030	0.0316	L	0.33485	1.01	0.38578	D	0.950103	B	0.21071	0.051	B	0.23275	0.045	T	0.08249	-1.0731	10	0.09084	T	0.74	-5.4973	8.0593	0.30623	0.073:0.0:0.6541:0.2729	.	662	Q86US8	EST1A_HUMAN	S	662;631	ENSP00000263073:P662S;ENSP00000443920:P631S	ENSP00000263073:P662S	P	-	1	0	SMG6	2147963	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.930000	0.70104	1.328000	0.45358	-0.136000	0.14681	CCG	SMG6	-	pfam_EST1		0.408	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			2201213	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	A
SMOX	54498	genome.wustl.edu	37	20	4168036	4168036	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:4168036C>G	ENST00000305958.4	+	7	1875	c.1650C>G	c.(1648-1650)ctC>ctG	p.L550L	SMOX_ENST00000379460.2_Silent_p.L550L|SMOX_ENST00000278795.3_Silent_p.L527L|SMOX_ENST00000339123.6_Silent_p.L497L|SMOX_ENST00000346595.2_Silent_p.L185L	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	550					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.L550L(1)|p.L527L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	ACCGAGACCTCTTCCAGCAGG	0.637																																																	2	Substitution - coding silent(2)	large_intestine(2)											63.0	56.0	58.0					20																	4168036		2203	4300	6503	SO:0001819	synonymous_variant	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1650C>G	20.37:g.4168036C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.L550	ENST00000305958.4	37	c.1650	CCDS13075.1	20																																																																																			SMOX	-	NULL		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	C	NM_175842		4168036	+1	no_errors	ENST00000305958	ensembl	human	known	70_37	silent	SNP	1.000	G
SMPD1	6609	genome.wustl.edu	37	11	6412747	6412747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6412747C>G	ENST00000342245.4	+	2	620	c.452C>G	c.(451-453)tCa>tGa	p.S151*	SMPD1_ENST00000299397.3_Nonsense_Mutation_p.S151*|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Nonsense_Mutation_p.S150*|SMPD1_ENST00000356761.2_Nonsense_Mutation_p.S151*	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	149	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TGGAGACGCTCAGTGCTGAGC	0.562																																																	0													71.0	60.0	64.0					11																	6412747		2201	4296	6497	SO:0001587	stop_gained	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.452C>G	11.37:g.6412747C>G	ENSP00000340409:p.Ser151*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Nonsense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.S151*	ENST00000342245.4	37	c.452	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.403048	0.97537	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-6.0856	16.0297	0.80570	0.0:1.0:0.0:0.0	.	.	.	.	X	151;151;151;150	.	ENSP00000299397:S151X	S	+	2	0	SMPD1	6369323	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.025000	0.76449	2.382000	0.81193	0.650000	0.86243	TCA	SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB		0.562	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6412747	+1	no_errors	ENST00000342245	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SNAPC1	6617	genome.wustl.edu	37	14	62248994	62248994	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:62248994C>G	ENST00000216294.4	+	8	959	c.855C>G	c.(853-855)gtC>gtG	p.V285V		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	285					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATCGTCAAGTCAAACTCGACT	0.368																																					NSCLC(27;223 907 37180 39193 46568)												0													98.0	93.0	95.0					14																	62248994		2203	4300	6503	SO:0001819	synonymous_variant	6617			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.855C>G	14.37:g.62248994C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SNAPc_SNAP43	p.V285	ENST00000216294.4	37	c.855	CCDS9755.1	14																																																																																			SNAPC1	-	NULL		0.368	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2	C	NM_003082		62248994	+1	no_errors	ENST00000216294	ensembl	human	known	70_37	silent	SNP	0.196	G
SNAPC3	6619	genome.wustl.edu	37	9	15423037	15423037	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:15423037C>A	ENST00000380821.3	+	1	336	c.160C>A	c.(160-162)Cgt>Agt	p.R54S		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	54					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GTGGCGGGGCCGTCTGCGCGG	0.687																																																	0													10.0	13.0	12.0					9																	15423037		2195	4271	6466	SO:0001583	missense	6619			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.160C>A	9.37:g.15423037C>A	ENSP00000370200:p.Arg54Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	pfam_snRNA-activating_su3	p.R54S	ENST00000380821.3	37	c.160	CCDS6478.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026305	0.35701	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.49432	0.78	5.21	3.21	0.36854	.	0.212677	0.40144	N	0.001180	T	0.60919	0.2306	M	0.65975	2.015	0.80722	D	1	D;P	0.67145	0.996;0.872	D;B	0.79108	0.992;0.312	T	0.60209	-0.7308	10	0.45353	T	0.12	-20.833	7.9279	0.29885	0.1732:0.4919:0.335:0.0	.	54;54	B4DDR9;Q92966	.;SNPC3_HUMAN	S	54	ENSP00000370200:R54S	ENSP00000370185:R54S	R	+	1	0	SNAPC3	15413037	0.997000	0.39634	0.993000	0.49108	0.026000	0.11368	0.966000	0.29331	1.413000	0.46997	-0.311000	0.09066	CGT	SNAPC3	-	NULL		0.687	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC3	HGNC	protein_coding	OTTHUMT00000051763.2	C	NM_001039697		15423037	+1	no_errors	ENST00000380821	ensembl	human	known	70_37	missense	SNP	0.989	A
RCC1	1104	genome.wustl.edu	37	1	28835342	28835342	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:28835342G>A	ENST00000373833.6	+	0	62				SNORA73B_ENST00000363217.1_RNA|SNHG3_ENST00000364938.1_RNA|RCC1_ENST00000398958.2_5'UTR			P18754	RCC1_HUMAN	regulator of chromosome condensation 1						chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTTTTAGGAGAGAAGACG	0.343																																																	0																																										SO:0001623	5_prime_UTR_variant	8420			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.-224G>A	1.37:g.28835342G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16269|Q6NT97	RNA	SNP	-	NULL	ENST00000373833.6	37	NULL	CCDS323.1	1																																																																																			SNHG3	-	-		0.343	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNHG3	HGNC	protein_coding	OTTHUMT00000010323.3	G	NM_001269		28835342	+1	no_errors	ENST00000413987	ensembl	human	known	70_37	rna	SNP	0.856	A
RPL5	6125	genome.wustl.edu	37	1	93302932	93302932	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:93302932G>C	ENST00000370321.3	+	6	617				SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGACGGGACTGATGGCAGCTA	0.363																																																	0													151.0	144.0	146.0					1																	93302932		876	1991	2867	SO:0001627	intron_variant	6083			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.528-81G>C	1.37:g.93302932G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32LZ3|Q53HH6|Q9H3F4	RNA	SNP	-	NULL	ENST00000370321.3	37	NULL	CCDS741.1	1																																																																																			SNORD21	-	-		0.363	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD21	HGNC	protein_coding	OTTHUMT00000030058.2	G	NM_000969		93302932	+1	no_errors	ENST00000383953	ensembl	human	known	70_37	rna	SNP	1.000	C
SNHG1	23642	genome.wustl.edu	37	11	62620500	62620500	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:62620500C>T	ENST00000384756.1	-	0	7				SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000516331.1_RNA	NR_000008.2				small nucleolar RNA host gene 1 (non-protein coding)																		AAAGTTTCTTCATTGGGAATT	0.448																																																	0													87.0	76.0	79.0					11																	62620500		874	1990	2864			9304			L36588		11q12.3	2013-07-02	2008-08-14		ENSG00000255717	ENSG00000255717		"""Long non-coding RNAs"", ""-"""	32688	non-coding RNA	RNA, long non-coding	"""U22 snoRNA host gene"", ""non-protein coding RNA 57"", ""long intergenic non-protein coding RNA 57"""	603222				8559254, 23801869	Standard	NR_003098		Approved	UHG, NCRNA00057, LINC00057	uc001nvt.3		OTTHUMG00000167743		11.37:g.62620500C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384756.1	37	NULL		11																																																																																			SNORD22	-	-		0.448	SNHG1-208	KNOWN	basic	snoRNA	SNORD22	HGNC	processed_transcript		C	NR_003098		62620500	-1	no_errors	ENST00000384756	ensembl	human	known	70_37	rna	SNP	1.000	T
RPL13A	23521	genome.wustl.edu	37	19	49993274	49993274	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49993274G>C	ENST00000391857.4	+	2	164				SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD34_ENST00000365633.1_RNA|CTD-3148I10.15_ENST00000595815.1_RNA|RPL13A_ENST00000477613.2_Intron|SNORD35A_ENST00000363389.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a						cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TCACGGCCATGAGATCAACCC	0.547																																																	0													70.0	68.0	68.0					19																	49993274		876	1991	2867	SO:0001627	intron_variant	26819			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.88+95G>C	19.37:g.49993274G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K505	RNA	SNP	-	NULL	ENST00000391857.4	37	NULL	CCDS12768.1	19																																																																																			SNORD32A	-	-		0.547	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD32A	HGNC	protein_coding	OTTHUMT00000258989.1	G			49993274	+1	no_errors	ENST00000364805	ensembl	human	known	70_37	rna	SNP	1.000	C
SNORD3D	780854	genome.wustl.edu	37	17	19015724	19015724	+	lincRNA	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19015724G>C	ENST00000362793.1	-	0	432									small nucleolar RNA, C/D box 3D																		GAGCCATCAAGAAGGAAAAac	0.547																																																	0													8.0	17.0	14.0					17																	19015724		835	1962	2797			780854					17p11.2	2013-09-05			ENSG00000199663				33192	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006882		Approved	U3-4					17.37:g.19015724G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000362793.1	37	NULL		17																																																																																			RP11-160E2.6	-	-		0.547	SNORD3D-201	KNOWN	basic	snoRNA	SNORD3D	Clone_based_vega_gene	lincRNA		G	NR_006882		19015724	-1	no_errors	ENST00000573866	ensembl	human	known	70_37	rna	SNP	0.038	C
RILPL1	353116	genome.wustl.edu	37	12	123956984	123956984	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:123956984C>G	ENST00000376874.4	-	0	1548				RILPL1_ENST00000544468.1_3'UTR|SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CAGGGTGCATCTGCACCGAGA	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	11066			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.*101G>C	12.37:g.123956984C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K36|Q8N1M0	RNA	SNP	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			SNRNP35	-	-		0.532	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000400595.1	C	NM_178314		123956984	+1	no_errors	ENST00000527158	ensembl	human	known	70_37	rna	SNP	0.002	G
SNRNP40	9410	genome.wustl.edu	37	1	31754370	31754370	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:31754370C>T	ENST00000263694.4	-	5	550				SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Intron	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GACAGTCTATCAGCAACATCA	0.423																																																	0													96.0	74.0	82.0					1																	31754370		2203	4300	6503	SO:0001627	intron_variant	9410			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.532-27G>A	1.37:g.31754370C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQJ1|O75938|O95320	RNA	SNP	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-		0.423	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	C	NM_004814		31754370	-1	no_errors	ENST00000489853	ensembl	human	known	70_37	rna	SNP	0.000	T
SNRPD2	6633	genome.wustl.edu	37	19	46191815	46191815	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:46191815G>C	ENST00000342669.3	-	2	456	c.12C>G	c.(10-12)ctC>ctG	p.L4L	SNRPD2_ENST00000391932.3_5'UTR|SNRPD2_ENST00000588599.1_5'UTR|SNRPD2_ENST00000588301.1_Silent_p.L4L|SNRPD2_ENST00000590212.1_Silent_p.L4L|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000587367.1_5'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	4					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TGGGCTTGTTGAGGAGGCTCC	0.542																																																	0													156.0	124.0	135.0					19																	46191815		2203	4300	6503	SO:0001819	synonymous_variant	6633				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.12C>G	19.37:g.46191815G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K797|J3KPM5|P43330	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.L4	ENST00000342669.3	37	c.12	CCDS33053.1	19																																																																																			SNRPD2	-	NULL		0.542	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	G	NM_004597		46191815	-1	no_errors	ENST00000342669	ensembl	human	known	70_37	silent	SNP	1.000	C
SNX19	399979	genome.wustl.edu	37	11	130784826	130784826	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:130784826C>G	ENST00000265909.4	-	1	1578	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E337Q|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	337					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AAATCTCCCTCTACAGCTTCG	0.493																																																	0													70.0	72.0	71.0					11																	130784826		2201	4297	6498	SO:0001583	missense	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1009G>C	11.37:g.130784826C>G	ENSP00000265909:p.Glu337Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.E337Q	ENST00000265909.4	37	c.1009	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215151	0.58452	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.19806	2.12;2.12	5.48	5.48	0.80851	.	0.641392	0.17436	N	0.174283	T	0.29355	0.0731	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.58520	0.84;0.781	T	0.00679	-1.1613	10	0.36615	T	0.2	-22.1739	13.6817	0.62489	0.0:0.9262:0.0:0.0738	.	337;337	E9PKB9;Q92543	.;SNX19_HUMAN	Q	337	ENSP00000265909:E337Q;ENSP00000435390:E337Q	ENSP00000265909:E337Q	E	-	1	0	SNX19	130290036	0.172000	0.23043	0.998000	0.56505	0.961000	0.63080	0.611000	0.24268	2.598000	0.87819	0.644000	0.83932	GAG	SNX19	-	NULL		0.493	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	C	NM_014758		130784826	-1	no_errors	ENST00000265909	ensembl	human	known	70_37	missense	SNP	0.990	G
SOCS3	9021	genome.wustl.edu	37	17	76354963	76354963	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76354963C>A	ENST00000330871.2	-	2	629	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	72	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TCCGAGCTGTCGCGGATCAGA	0.652																																																	0													29.0	27.0	28.0					17																	76354963		2202	4300	6502	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.214G>T	17.37:g.76354963C>A	ENSP00000330341:p.Asp72Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D72Y	ENST00000330871.2	37	c.214	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	C	19.97	3.926012	0.73327	.	.	ENSG00000184557	ENST00000330871	D	0.89343	-2.5	4.13	4.13	0.48395	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.95658	0.8588	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97038	0.9755	10	0.87932	D	0	-21.7147	16.3864	0.83505	0.0:1.0:0.0:0.0	.	72	O14543	SOCS3_HUMAN	Y	72	ENSP00000330341:D72Y	ENSP00000330341:D72Y	D	-	1	0	SOCS3	73866558	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.379000	0.79691	1.845000	0.53610	0.313000	0.20887	GAC	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.652	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76354963	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	1.000	A
SOCS3	9021	genome.wustl.edu	37	17	76354970	76354970	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76354970C>T	ENST00000330871.2	-	2	622	c.207G>A	c.(205-207)ctG>ctA	p.L69L	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	69	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGTCGCGGATCAGAAAGGTGC	0.652																																																	0													27.0	24.0	25.0					17																	76354970		2201	4300	6501	SO:0001819	synonymous_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.207G>A	17.37:g.76354970C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14509	Silent	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.L69	ENST00000330871.2	37	c.207	CCDS11756.1	17																																																																																			SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.652	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76354970	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	silent	SNP	1.000	T
SOCS3	9021	genome.wustl.edu	37	17	76355014	76355014	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76355014C>T	ENST00000330871.2	-	2	578	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	55	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGGTTCGCCTCGCCGCCGGTC	0.642																																																	0													15.0	13.0	14.0					17																	76355014		2174	4285	6459	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.163G>A	17.37:g.76355014C>T	ENSP00000330341:p.Glu55Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E55K	ENST00000330871.2	37	c.163	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003144	0.54254	.	.	ENSG00000184557	ENST00000330871	D	0.89939	-2.59	4.27	3.29	0.37713	SH2 motif (4);	0.180659	0.47455	D	0.000235	D	0.90277	0.6959	M	0.81802	2.56	0.50813	D	0.999896	D	0.53312	0.959	P	0.50896	0.653	D	0.88751	0.3250	10	0.59425	D	0.04	-20.3858	7.4452	0.27207	0.0:0.5972:0.3132:0.0896	.	55	O14543	SOCS3_HUMAN	K	55	ENSP00000330341:E55K	ENSP00000330341:E55K	E	-	1	0	SOCS3	73866609	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.467000	0.60155	0.775000	0.33450	0.467000	0.42956	GAG	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.642	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76355014	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	1.000	T
SOGA1	140710	genome.wustl.edu	37	20	35415003	35415003	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:35415003G>A	ENST00000357779.3	-	15	4483	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000456801.2_Missense_Mutation_p.S1227F|SOGA1_ENST00000237536.4_Missense_Mutation_p.S1624F			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1386					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGCGAAGCAGGAGGTGAGAGA	0.612																																																	0													92.0	100.0	97.0					20																	35415003		692	1591	2283	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4157C>T	20.37:g.35415003G>A	ENSP00000350424:p.Ser1386Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_DUF3166	p.S1386F	ENST00000357779.3	37	c.4157		20	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415767	0.62511	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.26223	1.75;1.81;1.79	4.92	4.92	0.64577	.	0.118379	0.64402	D	0.000016	T	0.41236	0.1150	L	0.52573	1.65	0.49483	D	0.999794	.	.	.	.	.	.	T	0.22208	-1.0223	8	0.72032	D	0.01	-26.8974	17.0615	0.86548	0.0:0.0:1.0:0.0	.	.	.	.	F	1624;1227;1386	ENSP00000237536:S1624F;ENSP00000413886:S1227F;ENSP00000350424:S1386F	ENSP00000237536:S1624F	S	-	2	0	KIAA0889	34848417	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.175000	0.77632	2.576000	0.86940	0.462000	0.41574	TCC	SOGA1	-	NULL		0.612	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		G	NM_199181		35415003	-1	no_errors	ENST00000357779	ensembl	human	known	70_37	missense	SNP	1.000	A
SORBS1	10580	genome.wustl.edu	37	10	97154431	97154431	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:97154431C>T	ENST00000361941.3	-	13	1324		c.e13-1		SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000347291.4_Splice_Site|SORBS1_ENST00000371247.2_Splice_Site|SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGATTGTCCTCTGTAGCAGAG	0.413																																																	0													132.0	125.0	128.0					10																	97154431		2203	4300	6503	SO:0001630	splice_region_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1298-1G>A	10.37:g.97154431C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e13-1	ENST00000361941.3	37	c.1298-1	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089150	0.76756	.	.	ENSG00000095637	ENST00000371247;ENST00000347291;ENST00000361941	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORBS1	97144421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.882000	0.98803	0.655000	0.94253	.	SORBS1	-	-		0.413	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C		Intron	97154431	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	splice_site	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121358831	121358831	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121358831G>A	ENST00000260197.7	+	4	748	c.619G>A	c.(619-621)Gct>Act	p.A207T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	207					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTCGGGCAGCTGATCTCCT	0.512																																																	0													250.0	234.0	239.0					11																	121358831		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.619G>A	11.37:g.121358831G>A	ENSP00000260197:p.Ala207Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A207T	ENST00000260197.7	37	c.619	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131741	0.06753	.	.	ENSG00000137642	ENST00000260197	T	0.29655	1.56	5.93	5.93	0.95920	VPS10 (1);	0.320832	0.33553	N	0.004792	T	0.09818	0.0241	N	0.01168	-0.975	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32745	-0.9895	10	0.09084	T	0.74	.	9.3155	0.37932	0.0714:0.0:0.7832:0.1454	.	207	Q92673	SORL_HUMAN	T	207	ENSP00000260197:A207T	ENSP00000260197:A207T	A	+	1	0	SORL1	120864041	1.000000	0.71417	0.897000	0.35233	0.446000	0.32137	4.071000	0.57556	2.812000	0.96745	0.555000	0.69702	GCT	SORL1	-	smart_VPS10		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121358831	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.972	A
SORL1	6653	genome.wustl.edu	37	11	121466404	121466404	+	Missense_Mutation	SNP	C	C	G	rs544390676		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121466404C>G	ENST00000260197.7	+	32	4571	c.4442C>G	c.(4441-4443)cCg>cGg	p.P1481R	SORL1_ENST00000532694.1_Missense_Mutation_p.P327R|SORL1_ENST00000527934.1_Missense_Mutation_p.P96R|SORL1_ENST00000534286.1_Missense_Mutation_p.P391R|SORL1_ENST00000525532.1_Missense_Mutation_p.P425R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1481	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCCACCAACCGAAGACGTGT	0.507																																																	0													61.0	47.0	52.0					11																	121466404		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4442C>G	11.37:g.121466404C>G	ENSP00000260197:p.Pro1481Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P1481R	ENST00000260197.7	37	c.4442	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830448	0.16749	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.38	5.38	0.77491	.	0.131904	0.51477	D	0.000086	D	0.92417	0.7593	N	0.16266	0.395	0.32463	N	0.543891	D;B	0.64830	0.994;0.384	P;B	0.62649	0.905;0.187	D	0.90803	0.4695	10	0.26408	T	0.33	.	9.1743	0.37102	0.0:0.7723:0.1486:0.0791	.	96;1481	E9PKB0;Q92673	.;SORL_HUMAN	R	1481;425;327;391;96	ENSP00000260197:P1481R;ENSP00000434634:P425R;ENSP00000432131:P327R;ENSP00000436447:P391R;ENSP00000435405:P96R	ENSP00000260197:P1481R	P	+	2	0	SORL1	120971614	0.973000	0.33851	0.288000	0.24862	0.112000	0.19704	2.551000	0.45820	2.509000	0.84616	0.655000	0.94253	CCG	SORL1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121466404	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.635	G
SORL1	6653	genome.wustl.edu	37	11	121483498	121483498	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121483498G>C	ENST00000260197.7	+	40	5505	c.5376G>C	c.(5374-5376)gaG>gaC	p.E1792D	SORL1_ENST00000532694.1_Missense_Mutation_p.E638D|SORL1_ENST00000527934.1_Missense_Mutation_p.E407D|SORL1_ENST00000534286.1_Missense_Mutation_p.E702D|SORL1_ENST00000525532.1_Missense_Mutation_p.E736D	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1792	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACAAGCAAGAGAGGAGAACTT	0.493																																																	0													127.0	98.0	108.0					11																	121483498		2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5376G>C	11.37:g.121483498G>C	ENSP00000260197:p.Glu1792Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1792D	ENST00000260197.7	37	c.5376	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504181	0.44558	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.91843	-2.92;-2.68;-2.32;-2.34;-2.23	5.76	0.568	0.17333	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.061428	0.64402	D	0.000007	D	0.87597	0.6217	N	0.14661	0.345	0.42515	D	0.992987	P;D	0.63880	0.935;0.993	B;P	0.57548	0.388;0.823	T	0.82426	-0.0463	10	0.23302	T	0.38	.	9.6759	0.40041	0.5134:0.0:0.4866:0.0	.	407;1792	E9PKB0;Q92673	.;SORL_HUMAN	D	1792;736;638;702;407	ENSP00000260197:E1792D;ENSP00000434634:E736D;ENSP00000432131:E638D;ENSP00000436447:E702D;ENSP00000435405:E407D	ENSP00000260197:E1792D	E	+	3	2	SORL1	120988708	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.055000	0.30467	0.308000	0.22923	0.655000	0.94253	GAG	SORL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121483498	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.998	C
SOX21	11166	genome.wustl.edu	37	13	95364171	95364171	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:95364171C>G	ENST00000376945.2	-	1	218	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	45					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					AGTTTCCACTCGGCGCCCAAG	0.612																																																	0													87.0	87.0	87.0					13																	95364171		2203	4300	6503	SO:0001583	missense	11166			AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.133G>C	13.37:g.95364171C>G	ENSP00000366144:p.Glu45Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P35715|Q15504|Q5TBS1	Missense_Mutation	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_Antifreeze_1	p.E45Q	ENST00000376945.2	37	c.133	CCDS9473.1	13	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620872	0.46736	.	.	ENSG00000125285	ENST00000376945	D	0.98028	-4.67	3.31	2.45	0.29901	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.95089	0.8409	N	0.21194	0.64	0.80722	D	1	P	0.38992	0.653	P	0.45856	0.495	D	0.93185	0.6578	10	0.87932	D	0	.	10.2339	0.43270	0.0:0.8966:0.0:0.1034	.	45	Q9Y651	SOX21_HUMAN	Q	45	ENSP00000366144:E45Q	ENSP00000366144:E45Q	E	-	1	0	SOX21	94162172	1.000000	0.71417	0.998000	0.56505	0.156000	0.22039	7.362000	0.79507	0.491000	0.27793	0.491000	0.48974	GAG	SOX21	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.612	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX21	HGNC	protein_coding	OTTHUMT00000045467.4	C	NM_007084		95364171	-1	no_errors	ENST00000376945	ensembl	human	known	70_37	missense	SNP	1.000	G
SP100	6672	genome.wustl.edu	37	2	231309055	231309055	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:231309055G>C	ENST00000264052.5	+	4	788	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	SP100_ENST00000409824.1_Missense_Mutation_p.E120Q|SP100_ENST00000409341.1_Missense_Mutation_p.E145Q|SP100_ENST00000409897.1_Missense_Mutation_p.E110Q|SP100_ENST00000409112.1_Missense_Mutation_p.E145Q|SP100_ENST00000427101.2_Missense_Mutation_p.E120Q|SP100_ENST00000340126.4_Missense_Mutation_p.E145Q|SP100_ENST00000341950.4_Missense_Mutation_p.E145Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	145	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAAGGCTTTGAAAATGGTAA	0.363																																																	0													92.0	95.0	94.0					2																	231309055		2202	4300	6502	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.433G>C	2.37:g.231309055G>C	ENSP00000264052:p.Glu145Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E145Q	ENST00000264052.5	37	c.433	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254498	0.01457	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	3.89	-3.87	0.04218	Sp100 (2);	.	.	.	.	D	0.88265	0.6390	L	0.41356	1.27	0.09310	N	1	B;B;B;B;P;B;B;B	0.45634	0.056;0.097;0.028;0.007;0.863;0.071;0.035;0.056	B;B;B;B;P;B;B;B	0.49361	0.043;0.051;0.072;0.014;0.608;0.025;0.063;0.069	T	0.79562	-0.1752	9	0.13853	T	0.58	.	2.6438	0.04978	0.3161:0.1204:0.4417:0.1218	.	120;145;110;145;145;145;120;145	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	Q	145;120;120;120;145;145;145;145;110	ENSP00000264052:E145Q;ENSP00000399389:E120Q;ENSP00000391616:E120Q;ENSP00000387311:E120Q;ENSP00000386404:E145Q;ENSP00000386427:E145Q;ENSP00000343023:E145Q;ENSP00000342729:E145Q;ENSP00000386998:E110Q	ENSP00000264052:E145Q	E	+	1	0	SP100	231017299	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.382000	0.01064	-1.165000	0.02786	-1.298000	0.01336	GAA	SP100	-	pfam_Sp100		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231309055	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	C
SPARCL1	8404	genome.wustl.edu	37	4	88403667	88403667	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88403667C>T	ENST00000282470.6	-	8	2047	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPARCL1_ENST00000418378.1_Missense_Mutation_p.R526Q|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R401Q	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	526					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GTCTCTCATCCGTAGAGGAAA	0.393																																																	0													98.0	93.0	95.0					4																	88403667		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1577G>A	4.37:g.88403667C>T	ENSP00000282470:p.Arg526Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.R526Q	ENST00000282470.6	37	c.1577	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049104	0.93740	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.39787	1.7;1.7;1.06	5.51	4.65	0.58169	Osteonectin-like, conserved site (1);SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.94142	3.5	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.80457	-0.1374	10	0.87932	D	0	-15.9242	14.3589	0.66757	0.0:0.9251:0.0:0.0749	.	526	Q14515	SPRL1_HUMAN	Q	526;526;401;401	ENSP00000282470:R526Q;ENSP00000414856:R526Q;ENSP00000422903:R401Q	ENSP00000282470:R526Q	R	-	2	0	SPARCL1	88622691	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	4.580000	0.60942	2.756000	0.94617	0.655000	0.94253	CGG	SPARCL1	-	pfam_SPARC/Testican_Ca-bd-dom,pirsf_SPARC-like_p1		0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88403667	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	1.000	T
CTBS	1486	genome.wustl.edu	37	1	85018772	85018772	+	3'UTR	DEL	A	A	-			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:85018772delA	ENST00000370630.5	-	0	3116				CTBS_ENST00000477677.1_5'Flank	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.I452fs*1(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACTGGCACAGAAAAAAAAAAT	0.239																																																	2	Deletion - Frameshift(2)	large_intestine(1)|central_nervous_system(1)								84,112,2696		6,0,72,9,94,1265	4.0	4.0	4.0			4.5	1.0	1		5	187,225,6094		21,3,142,14,194,2879	no	near-gene-3				27,3,214,23,288,4144	A1A1,A1A2,A1R,A2A2,A2R,RR		6.3326,6.7773,6.4695			85018772	271,337,8790	1533	3494	5027	SO:0001624	3_prime_UTR_variant	100505741			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*1910T>-	1.37:g.85018772delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX50	RNA	DEL	-	NULL	ENST00000370630.5	37	NULL	CCDS698.1	1																																																																																			SPATA1	-	-		0.239	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA1	HGNC	protein_coding	OTTHUMT00000027457.2	A	NM_004388		85018772	+1	no_errors	ENST00000460286	ensembl	human	known	70_37	rna	DEL	1.000	-
SPATA20	64847	genome.wustl.edu	37	17	48625789	48625789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:48625789C>T	ENST00000356488.4	+	2	306	c.223C>T	c.(223-225)Caa>Taa	p.Q75*	SPATA20_ENST00000393244.3_Nonsense_Mutation_p.Q31*|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Nonsense_Mutation_p.Q91*	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	75					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATACCTCCTACAACATGCCTA	0.612																																																	0													126.0	111.0	116.0					17																	48625789		2203	4300	6503	SO:0001587	stop_gained	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.223C>T	17.37:g.48625789C>T	ENSP00000348878:p.Gln75*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Nonsense_Mutation	SNP	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.Q91*	ENST00000356488.4	37	c.271	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.975736	0.97162	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.3934	17.892	0.88875	0.0:1.0:0.0:0.0	.	.	.	.	X	91;75;31	.	ENSP00000006658:Q91X	Q	+	1	0	SPATA20	45980788	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	7.259000	0.78381	2.456000	0.83038	0.561000	0.74099	CAA	SPATA20	-	pfam_DUF255,superfamily_Thioredoxin-like_fold		0.612	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1	C	NM_022827		48625789	+1	no_errors	ENST00000006658	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPATA21	374955	genome.wustl.edu	37	1	16736453	16736453	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16736453C>T	ENST00000335496.1	-	6	712	c.230G>A	c.(229-231)aGc>aAc	p.S77N	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.S54N	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	77							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GTTCCCGAGGCTCTGTGTCCC	0.657																																																	0													39.0	40.0	39.0					1																	16736453		2203	4300	6503	SO:0001583	missense	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.230G>A	1.37:g.16736453C>T	ENSP00000335612:p.Ser77Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK40|F5GXP5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S77N	ENST00000335496.1	37	c.230	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.554131	0.00918	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.63255	-0.01;-0.03	3.38	-6.03	0.02185	.	3.725310	0.00465	N	0.000118	T	0.31513	0.0799	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47275	-0.9130	10	0.05620	T	0.96	-0.307	8.1991	0.31413	0.0:0.6208:0.1428:0.2364	.	54;77	F5GXP5;Q7Z572	.;SPT21_HUMAN	N	77;54	ENSP00000335612:S77N;ENSP00000440046:S54N	ENSP00000335612:S77N	S	-	2	0	SPATA21	16609040	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-1.442000	0.01955	-1.959000	0.00480	AGC	SPATA21	-	NULL		0.657	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	C	NM_198546		16736453	-1	no_errors	ENST00000335496	ensembl	human	known	70_37	missense	SNP	0.000	T
SPATA4	132851	genome.wustl.edu	37	4	177114112	177114112	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:177114112C>G	ENST00000280191.2	-	3	572	c.464G>C	c.(463-465)cGa>cCa	p.R155P	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	155						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AACTTACTCTCGATGTGTTAA	0.279																																																	0													53.0	57.0	56.0					4																	177114112		2202	4295	6497	SO:0001583	missense	132851			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.464G>C	4.37:g.177114112C>G	ENSP00000280191:p.Arg155Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NCS5|Q8WW15	Missense_Mutation	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.R155P	ENST00000280191.2	37	c.464	CCDS3826.1	4	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262986	0.59431	.	.	ENSG00000150628	ENST00000280191	T	0.25085	1.82	5.45	-1.16	0.09678	.	0.972481	0.08409	N	0.950313	T	0.41926	0.1180	L	0.55103	1.725	0.38896	D	0.957228	D	0.65815	0.995	D	0.66979	0.948	T	0.51036	-0.8756	10	0.72032	D	0.01	.	9.91	0.41399	0.0:0.4225:0.0:0.5775	.	155	Q8NEY3	SPAT4_HUMAN	P	155	ENSP00000280191:R155P	ENSP00000280191:R155P	R	-	2	0	SPATA4	177351106	0.400000	0.25295	0.935000	0.37517	0.975000	0.68041	-0.125000	0.10579	-0.123000	0.11745	0.655000	0.94253	CGA	SPATA4	-	pfam_DUF1042,superfamily_CH-domain		0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	C	NM_144644		177114112	-1	no_errors	ENST00000280191	ensembl	human	known	70_37	missense	SNP	0.333	G
SPATS2L	26010	genome.wustl.edu	37	2	201284009	201284009	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:201284009C>G	ENST00000358677.5	+	6	482	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	SPATS2L_ENST00000451764.2_Missense_Mutation_p.Q79E|SPATS2L_ENST00000409385.1_Missense_Mutation_p.Q19E|SPATS2L_ENST00000409755.3_Missense_Mutation_p.Q109E|SPATS2L_ENST00000409988.3_Missense_Mutation_p.Q79E|SPATS2L_ENST00000409140.3_Missense_Mutation_p.Q79E|SPATS2L_ENST00000409151.1_Missense_Mutation_p.Q87E|SPATS2L_ENST00000409718.1_Missense_Mutation_p.Q79E|SPATS2L_ENST00000360760.5_Missense_Mutation_p.Q79E	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	79						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAAGCAGCATCAAGGCAACAA	0.448																																																	0													30.0	32.0	32.0					2																	201284009		1892	4115	6007	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.235C>G	2.37:g.201284009C>G	ENSP00000351503:p.Gln79Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.Q109E	ENST00000358677.5	37	c.325	CCDS46483.1	2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578117	0.28180	.	.	ENSG00000196141	ENST00000439084;ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000439395;ENST00000451764;ENST00000360760;ENST00000423749;ENST00000457757;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000421573;ENST00000449647;ENST00000438761	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000020	T	0.55033	0.1895	L	0.33485	1.01	0.36590	D	0.874066	D;P;P	0.59357	0.985;0.75;0.932	D;B;D	0.73708	0.981;0.304;0.926	T	0.51663	-0.8677	9	0.02654	T	1	-19.2593	12.2431	0.54555	0.0:0.9208:0.0:0.0792	.	109;79;79	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	E	79;79;79;79;19;79;79;79;79;79;79;79;79;109;87;79;79;74	.	ENSP00000351503:Q79E	Q	+	1	0	SPATS2L	200992254	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.955000	0.49121	2.820000	0.97059	0.650000	0.86243	CAA	SPATS2L	-	pfam_DUF1387		0.448	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	C	NM_015535		201284009	+1	no_errors	ENST00000409755	ensembl	human	known	70_37	missense	SNP	1.000	G
SPDYC	387778	genome.wustl.edu	37	11	64940071	64940071	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64940071G>A	ENST00000377185.2	+	5	593	c.511G>A	c.(511-513)Gag>Aag	p.E171K	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGTGCTGTGAGGAGGTGAG	0.592																																																	0													52.0	55.0	54.0					11																	64940071		2201	4297	6498	SO:0001583	missense	387778			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.511G>A	11.37:g.64940071G>A	ENSP00000366390:p.Glu171Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.E171K	ENST00000377185.2	37	c.511	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466841	0.84425	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.5	3.64	0.41730	.	0.113106	0.36778	N	0.002402	T	0.44052	0.1275	L	0.48986	1.54	0.29139	N	0.879159	D	0.52996	0.957	P	0.49752	0.621	T	0.41161	-0.9524	9	0.52906	T	0.07	.	10.105	0.42528	0.1636:0.0:0.8364:0.0	.	171	Q5MJ68	SPDYC_HUMAN	K	171	.	ENSP00000366390:E171K	E	+	1	0	SPDYC	64696647	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.942000	0.63547	0.703000	0.31848	0.655000	0.94253	GAG	SPDYC	-	pfam_Cell_cycle_regulatory_Spy1		0.592	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	G	NM_001008778		64940071	+1	no_errors	ENST00000377185	ensembl	human	known	70_37	missense	SNP	1.000	A
SPG11	80208	genome.wustl.edu	37	15	44858173	44858173	+	Missense_Mutation	SNP	C	C	T	rs201721414		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:44858173C>T	ENST00000261866.7	-	38	6894	c.6878G>A	c.(6877-6879)cGg>cAg	p.R2293Q	SPG11_ENST00000535302.2_Missense_Mutation_p.R2180Q|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2293					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTGGTGAGCCGCTGACAGTG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19727	0.001		0.0	False		,,,				2504	0.0																0								C	GLN/ARG,GLN/ARG	0,4396		0,0,2198	52.0	45.0	47.0		6539,6878	4.3	1.0	15		47	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense	SPG11	NM_001160227.1,NM_025137.3	43,43	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	2180/2331,2293/2444	44858173	2,12990	2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6878G>A	15.37:g.44858173C>T	ENSP00000261866:p.Arg2293Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.R2293Q	ENST00000261866.7	37	c.6878	CCDS10112.1	15	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.1	4.380160	0.82682	0.0	2.33E-4	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.77750	-1.12;-0.8	6.16	4.3	0.51218	.	0.056862	0.64402	D	0.000002	D	0.86393	0.5922	M	0.74881	2.28	0.80722	D	1	P;D;D	0.89917	0.931;1.0;1.0	B;D;D	0.76575	0.23;0.988;0.988	D	0.86125	0.1571	10	0.49607	T	0.09	.	12.6989	0.57020	0.0:0.8685:0.0:0.1315	.	2180;2293;2293	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	Q	2293;2180	ENSP00000261866:R2293Q;ENSP00000445278:R2180Q	ENSP00000261866:R2293Q	R	-	2	0	SPG11	42645465	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	2.263000	0.43293	0.943000	0.37553	0.650000	0.86243	CGG	SPG11	-	NULL		0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	C			44858173	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	1.000	T
SPN	6693	genome.wustl.edu	37	16	29675794	29675794	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:29675794G>C	ENST00000360121.3	+	2	837	c.745G>C	c.(745-747)Gat>Cat	p.D249H	SPN_ENST00000395389.2_Missense_Mutation_p.D249H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCGGAACCCAGATGAGAACTC	0.607																																																	0													74.0	64.0	67.0					16																	29675794		2197	4300	6497	SO:0001583	missense	6693			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.745G>C	16.37:g.29675794G>C	ENSP00000353238:p.Asp249His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	NULL	p.D249H	ENST00000360121.3	37	c.745	CCDS10650.1	16	.	.	.	.	.	.	.	.	.	.	.	15.98	2.993101	0.54041	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.76316	-1.01;-1.01;-1.01	4.85	-9.7	0.00521	.	4.517250	0.00397	N	0.000059	T	0.62233	0.2411	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.17098	0.017	T	0.48317	-0.9046	10	0.40728	T	0.16	15.8935	4.3059	0.10947	0.2401:0.4124:0.2601:0.0873	.	249	P16150	LEUK_HUMAN	H	249	ENSP00000378787:D249H;ENSP00000412907:D249H;ENSP00000353238:D249H	ENSP00000353238:D249H	D	+	1	0	SPN	29583295	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.601000	0.05687	-2.037000	0.00920	-0.499000	0.04595	GAT	SPN	-	NULL		0.607	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPN	HGNC	protein_coding	OTTHUMT00000215001.2	G			29675794	+1	no_errors	ENST00000360121	ensembl	human	known	70_37	missense	SNP	0.000	C
SPIRE2	84501	genome.wustl.edu	37	16	89936089	89936089	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89936089C>G	ENST00000378247.3	+	14	1964	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	SPIRE2_ENST00000393062.2_Intron	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	641					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGACATCTTTCAGTGCGTTCT	0.537																																																	0													135.0	97.0	110.0					16																	89936089		2198	4300	6498	SO:0001630	splice_region_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1922+1C>G	16.37:g.89936089C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.Q641E	ENST00000378247.3	37	c.1921	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	c	13.22	2.173514	0.38413	.	.	ENSG00000204991	ENST00000378247	T	0.40756	1.02	5.14	5.14	0.70334	Zinc finger, FYVE/PHD-type (1);	0.267688	0.36972	N	0.002315	T	0.42040	0.1185	M	0.67953	2.075	0.80722	D	1	P;P;P	0.42871	0.792;0.792;0.75	B;B;B	0.40864	0.229;0.342;0.233	T	0.40251	-0.9573	10	0.07030	T	0.85	-10.7818	17.6049	0.88035	0.0:1.0:0.0:0.0	.	508;593;641	Q8WWL2-4;Q8WWL2-3;Q8WWL2	.;.;SPIR2_HUMAN	E	641	ENSP00000367494:Q641E	ENSP00000367494:Q641E	Q	+	1	0	SPIRE2	88463590	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.162000	0.50755	2.409000	0.81822	0.558000	0.71614	CAG	SPIRE2	-	superfamily_Znf_FYVE_PHD		0.537	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462	Missense_Mutation	89936089	+1	no_errors	ENST00000378247	ensembl	human	known	70_37	missense	SNP	1.000	G
SPTAN1	6709	genome.wustl.edu	37	9	131345069	131345069	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:131345069G>C	ENST00000372731.4	+	14	1857	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D583H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D583H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	583					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						CCGTGATTCTGATGAGCTCAA	0.488																																					NSCLC(120;833 1744 2558 35612 37579)												0													105.0	104.0	105.0					9																	131345069		2203	4300	6503	SO:0001583	missense	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.1747G>C	9.37:g.131345069G>C	ENSP00000361816:p.Asp583His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_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.D583H	ENST00000372731.4	37	c.1747	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043439	0.93685	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.38560	1.13;1.13;1.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.989;0.998;1.0;0.996;0.995	T	0.61850	-0.6978	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	583;583;583;583;583	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	583	ENSP00000350882:D583H;ENSP00000361816:D583H;ENSP00000361824:D583H	ENSP00000350882:D583H	D	+	1	0	SPTAN1	130384890	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	GAT	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131345069	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	C
SPTAN1	6709	genome.wustl.edu	37	9	131389689	131389689	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:131389689G>A	ENST00000372731.4	+	49	6696	c.6586G>A	c.(6586-6588)Gaa>Aaa	p.E2196K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2201K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2201K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2196					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						GCTGCAGAAGGAACAGCGGCG	0.647																																					NSCLC(120;833 1744 2558 35612 37579)												0													36.0	24.0	28.0					9																	131389689		2029	3899	5928	SO:0001583	missense	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.6586G>A	9.37:g.131389689G>A	ENSP00000361816:p.Glu2196Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_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.E2201K	ENST00000372731.4	37	c.6601	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425424	0.83667	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.73681	-0.77;-0.77;-0.77	5.4	5.4	0.78164	.	0.102678	0.64402	D	0.000004	D	0.89911	0.6852	M	0.92507	3.315	0.80722	D	1	D;D;D;B	0.89917	1.0;0.999;0.974;0.0	D;D;D;B	0.91635	0.999;0.997;0.953;0.0	D	0.91974	0.5589	10	0.72032	D	0.01	.	19.1858	0.93644	0.0:0.0:1.0:0.0	.	1185;2176;2201;2196	Q9UG16;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	K	2201;2196;2201;2176;445	ENSP00000350882:E2201K;ENSP00000361816:E2196K;ENSP00000361824:E2201K	ENSP00000350882:E2201K	E	+	1	0	SPTAN1	130429510	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.400000	0.97290	2.531000	0.85337	0.655000	0.94253	GAA	SPTAN1	-	NULL		0.647	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131389689	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTB	6710	genome.wustl.edu	37	14	65259917	65259917	+	Silent	SNP	G	G	T	rs201338747		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:65259917G>T	ENST00000389721.5	-	13	2496	c.2464C>A	c.(2464-2466)Cgg>Agg	p.R822R	SPTB_ENST00000556626.1_Silent_p.R822R|SPTB_ENST00000542895.1_Silent_p.R822R|SPTB_ENST00000389720.3_Silent_p.R822R|SPTB_ENST00000389722.3_Silent_p.R822R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	822					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTGCAGCCGATGGGTCACA	0.657																																																	0													45.0	50.0	48.0					14																	65259917		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2464C>A	14.37:g.65259917G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R822	ENST00000389721.5	37	c.2464	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.657	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	G			65259917	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	silent	SNP	1.000	T
SPTBN1	6711	genome.wustl.edu	37	2	54894740	54894740	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:54894740G>C	ENST00000356805.4	+	35	7114		c.e35-1			NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGAAATTACAGACTAAATGAT	0.393																																																	0													143.0	132.0	136.0					2																	54894740		2203	4300	6503	SO:0001630	splice_region_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6834-1G>C	2.37:g.54894740G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Splice_Site	SNP	-	e34-1	ENST00000356805.4	37	c.6834-1	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734750	0.89482	.	.	ENSG00000115306	ENST00000356805	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN1	54748244	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.769000	0.98969	2.723000	0.93209	0.655000	0.94253	.	SPTBN1	-	-		0.393	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G		Intron	54894740	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	splice_site	SNP	1.000	C
SPTBN2	6712	genome.wustl.edu	37	11	66457557	66457557	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:66457557G>A	ENST00000533211.1	-	28	6094	c.5763C>T	c.(5761-5763)ctC>ctT	p.L1921L	SPTBN2_ENST00000529997.1_Silent_p.L1921L|SPTBN2_ENST00000309996.2_Silent_p.L1921L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1921					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CATCCATCCAGAGCATCAGTT	0.637																																																	0													122.0	120.0	121.0					11																	66457557		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5763C>T	11.37:g.66457557G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1921	ENST00000533211.1	37	c.5763	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66457557	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	silent	SNP	0.994	A
SQLE	6713	genome.wustl.edu	37	8	126017781	126017781	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:126017781C>A	ENST00000265896.5	+	3	1457	c.559C>A	c.(559-561)Ctt>Att	p.L187I	SQLE_ENST00000523430.1_Missense_Mutation_p.L92I	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	187					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTGGAAGGTCTTGATGCCCA	0.403																																																	0													174.0	179.0	177.0					8																	126017781		1918	4129	6047	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.559C>A	8.37:g.126017781C>A	ENSP00000265896:p.Leu187Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.L187I	ENST00000265896.5	37	c.559	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	C	3.688	-0.064189	0.07273	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000521232	T	0.52295	0.67	5.63	0.0619	0.14342	.	0.243999	0.41938	N	0.000791	T	0.13543	0.0328	N	0.01649	-0.78	0.43613	D	0.995982	B	0.13594	0.008	B	0.16289	0.015	T	0.34875	-0.9811	10	0.02654	T	1	-6.8693	5.8516	0.18696	0.4721:0.299:0.0:0.2289	.	187	Q14534	ERG1_HUMAN	I	92;187;129	ENSP00000428239:L129I	ENSP00000265896:L187I	L	+	1	0	SQLE	126086962	0.989000	0.36119	0.958000	0.39756	0.964000	0.63967	0.446000	0.21694	-0.311000	0.08754	-0.291000	0.09656	CTT	SQLE	-	pfam_mOase_FAD-bd		0.403	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	C	NM_003129		126017781	+1	no_errors	ENST00000265896	ensembl	human	known	70_37	missense	SNP	0.998	A
SRCAP	10847	genome.wustl.edu	37	16	30735462	30735462	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30735462C>G	ENST00000262518.4	+	25	5102	c.4717C>G	c.(4717-4719)Ctg>Gtg	p.L1573V	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1415V|SRCAP_ENST00000395059.2_Missense_Mutation_p.L1511V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1573	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCTTCCCTTCTGGCTCCAGC	0.602																																																	0													89.0	80.0	83.0					16																	30735462		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4717C>G	16.37:g.30735462C>G	ENSP00000262518:p.Leu1573Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.L1573V	ENST00000262518.4	37	c.4717	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	8.407	0.843237	0.16963	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94931	-2.86;-3.43;-3.56	5.65	3.68	0.42216	.	0.000000	0.42172	D	0.000747	D	0.92743	0.7693	N	0.19112	0.55	0.23524	N	0.997497	D;D;D	0.71674	0.993;0.998;0.996	P;D;P	0.63488	0.879;0.915;0.824	D	0.85608	0.1256	10	0.41790	T	0.15	-7.7166	9.0883	0.36594	0.0:0.8186:0.0:0.1814	.	1415;1511;1573	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	1573;1511;1415	ENSP00000262518:L1573V;ENSP00000378499:L1511V;ENSP00000343042:L1415V	ENSP00000262518:L1573V	L	+	1	2	SRCAP	30642963	0.003000	0.15002	1.000000	0.80357	0.981000	0.71138	0.775000	0.26689	1.354000	0.45846	0.460000	0.39030	CTG	SRCAP	-	NULL		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30735462	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	G
SREK1IP1	285672	genome.wustl.edu	37	5	64023951	64023951	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:64023951C>G	ENST00000513458.4	-	4	428	c.261G>C	c.(259-261)ttG>ttC	p.L87F		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	87	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttttttttcaatttgattt	0.264																																																	0													17.0	21.0	19.0					5																	64023951		2131	4185	6316	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.261G>C	5.37:g.64023951C>G	ENSP00000427401:p.Leu87Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.L87F	ENST00000513458.4	37	c.261	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062595	0.36373	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.17	2.37	0.29283	.	0.397804	0.24750	N	0.035920	T	0.66742	0.2820	M	0.65498	2.005	0.36421	D	0.864301	D	0.58970	0.984	D	0.70487	0.969	T	0.68538	-0.5382	9	0.35671	T	0.21	-16.0455	5.9853	0.19430	0.0:0.7699:0.0:0.2301	.	87	Q8N9Q2	SR1IP_HUMAN	F	87	.	ENSP00000427401:L87F	L	-	3	2	SREK1IP1	64059707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.990000	0.29642	1.100000	0.41517	0.655000	0.94253	TTG	SREK1IP1	-	NULL		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4	C	NM_173829		64023951	-1	no_errors	ENST00000513458	ensembl	human	known	70_37	missense	SNP	1.000	G
SREK1IP1	285672	genome.wustl.edu	37	5	64023998	64023998	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:64023998C>T	ENST00000513458.4	-	4	381	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	72					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						tcctcttcttcatttattCCT	0.264																																																	0													18.0	21.0	20.0					5																	64023998		2161	4246	6407	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.214G>A	5.37:g.64023998C>T	ENSP00000427401:p.Glu72Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.E72K	ENST00000513458.4	37	c.214	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828633	0.50845	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.07	3.2	0.36748	.	0.282966	0.38720	N	0.001593	T	0.47967	0.1474	L	0.49350	1.555	0.35221	D	0.776052	B	0.18968	0.032	B	0.21917	0.037	T	0.53365	-0.8449	9	0.38643	T	0.18	-11.9644	7.7654	0.28976	0.0:0.8845:0.0:0.1155	.	72	Q8N9Q2	SR1IP_HUMAN	K	72	.	ENSP00000427401:E72K	E	-	1	0	SREK1IP1	64059754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.573000	0.36472	1.061000	0.40601	0.655000	0.94253	GAA	SREK1IP1	-	NULL		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4	C	NM_173829		64023998	-1	no_errors	ENST00000513458	ensembl	human	known	70_37	missense	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2813286	2813286	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2813286G>A	ENST00000301740.8	+	11	3306	c.2757G>A	c.(2755-2757)gtG>gtA	p.V919V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	919	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACCCAAAGTGAAGGCAATAA	0.502																																																	0													80.0	74.0	76.0					16																	2813286		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2757G>A	16.37:g.2813286G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.V919	ENST00000301740.8	37	c.2757	CCDS32373.1	16																																																																																			SRRM2	-	NULL		0.502	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	G			2813286	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	silent	SNP	0.001	A
SRRM4	84530	genome.wustl.edu	37	12	119540159	119540159	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:119540159C>G	ENST00000267260.4	+	2	638	c.250C>G	c.(250-252)Cgg>Ggg	p.R84G	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	84					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAAGACCTGTCGGGAACTGGG	0.567																																																	0													39.0	42.0	41.0					12																	119540159		1933	4143	6076	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.250C>G	12.37:g.119540159C>G	ENSP00000267260:p.Arg84Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.R84G	ENST00000267260.4	37	c.250	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040202	0.35989	.	.	ENSG00000139767	ENST00000267260	T	0.25749	1.78	4.83	1.62	0.23740	.	0.419860	0.21470	N	0.074016	T	0.21590	0.0520	L	0.50333	1.59	0.34482	D	0.704024	B	0.23185	0.081	B	0.26693	0.072	T	0.13953	-1.0490	10	0.72032	D	0.01	-0.2645	5.828	0.18564	0.4298:0.477:0.0:0.0932	.	84	A7MD48	SRRM4_HUMAN	G	84	ENSP00000267260:R84G	ENSP00000267260:R84G	R	+	1	2	SRRM4	118024542	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	0.687000	0.25407	0.189000	0.20188	0.655000	0.94253	CGG	SRRM4	-	NULL		0.567	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	C	NM_194286		119540159	+1	no_errors	ENST00000267260	ensembl	human	known	70_37	missense	SNP	0.997	G
SRSF1	6426	genome.wustl.edu	37	17	56082318	56082318	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:56082318C>G	ENST00000258962.4	-	0	1404				SRSF1_ENST00000585096.1_3'UTR|SRSF1_ENST00000581497.1_5'UTR|SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_3'UTR|RP11-159D12.5_ENST00000578794.1_5'UTR	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1						cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCCTCAATCCTCCTTTTGA	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.*449G>C	17.37:g.56082318C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Z7|D3DTZ3|Q13809	RNA	SNP	-	NULL	ENST00000258962.4	37	NULL	CCDS11600.1	17																																																																																			SRSF1	-	-		0.383	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1	C	NM_006924		56082318	-1	no_errors	ENST00000581497	ensembl	human	known	70_37	rna	SNP	1.000	G
SSPO	23145	genome.wustl.edu	37	7	149516582	149516582	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:149516582C>T	ENST00000378016.2	+	0	11985							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCGCCGCTTCTGCAACCTGC	0.721																																																	0													12.0	15.0	14.0					7																	149516582		1961	4135	6096			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.721	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149516582	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	T
SSX1	6756	genome.wustl.edu	37	X	48121241	48121241	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48121241C>T	ENST00000376919.3	+	5	457	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						TCCACAGAATCATCCCGAAGG	0.413			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)			Dom	yes		X	Xp11.23-p11.22	6756	"""synovial sarcoma, X breakpoint 1"""		M	0													111.0	101.0	104.0					X																	48121241		2203	4299	6502	SO:0001819	synonymous_variant	6756			BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.321C>T	X.37:g.48121241C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.I107	ENST00000376919.3	37	c.321	CCDS14290.1	X																																																																																			SSX1	-	NULL		0.413	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	HGNC	protein_coding	OTTHUMT00000056485.1	C	NM_005635		48121241	+1	no_errors	ENST00000376919	ensembl	human	known	70_37	silent	SNP	0.000	T
ST5	6764	genome.wustl.edu	37	11	8718158	8718158	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:8718158C>T	ENST00000534127.1	-	21	3493	c.3108G>A	c.(3106-3108)gaG>gaA	p.E1036E	ST5_ENST00000530438.1_Silent_p.E616E|ST5_ENST00000357665.1_Silent_p.E1036E|ST5_ENST00000313726.6_Silent_p.E1036E|ST5_ENST00000526757.1_Silent_p.E616E|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_Silent_p.E227E|ST5_ENST00000530991.1_Silent_p.E508E|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Silent_p.E549E	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1036	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCCAACGGTCTCCACAAAGA	0.522																																																	0													152.0	169.0	163.0					11																	8718158		2201	4296	6497	SO:0001819	synonymous_variant	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3108G>A	11.37:g.8718158C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	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.E1036	ENST00000534127.1	37	c.3108	CCDS7791.1	11																																																																																			ST5	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.522	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	C	NM_005418		8718158	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	silent	SNP	1.000	T
ST14	6768	genome.wustl.edu	37	11	130078419	130078419	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:130078419C>T	ENST00000278742.5	+	17	2527	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	703	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCCCTTCTTCAATGACTTCA	0.647																																																	0													81.0	74.0	76.0					11																	130078419		2201	4297	6498	SO:0001819	synonymous_variant	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2109C>T	11.37:g.130078419C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F703	ENST00000278742.5	37	c.2109	CCDS8487.1	11																																																																																			ST14	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6		0.647	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	C			130078419	+1	no_errors	ENST00000278742	ensembl	human	known	70_37	silent	SNP	1.000	T
ST6GALNAC1	55808	genome.wustl.edu	37	17	74621487	74621487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:74621487C>T	ENST00000156626.7	-	9	1927	c.1728G>A	c.(1726-1728)tgG>tgA	p.W576*	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	576					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTAGCCGCTTCCAGACTTCTC	0.532																																																	0													75.0	63.0	67.0					17																	74621487		2203	4300	6503	SO:0001587	stop_gained	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1728G>A	17.37:g.74621487C>T	ENSP00000156626:p.Trp576*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UW90|Q9NSC6	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.W576*	ENST00000156626.7	37	c.1728	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.606093	0.96626	.	.	ENSG00000070526	ENST00000156626	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2005	18.8284	0.92127	0.0:1.0:0.0:0.0	.	.	.	.	X	576	.	ENSP00000156626:W576X	W	-	3	0	ST6GALNAC1	72133082	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	5.469000	0.66749	2.524000	0.85096	0.655000	0.94253	TGG	ST6GALNAC1	-	pfam_Glyco_trans_29		0.532	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	C	NM_018414		74621487	-1	no_errors	ENST00000156626	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ST6GALNAC6	30815	genome.wustl.edu	37	9	130652973	130652973	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:130652973G>A	ENST00000373146.1	-	5	826	c.647C>T	c.(646-648)tCt>tTt	p.S216F	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.S216F|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.S182F|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.S216F|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.S182F			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	216					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCGGCCGGGAGAGACGGCATA	0.662																																																	0													43.0	46.0	45.0					9																	130652973		2203	4299	6502	SO:0001583	missense	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.647C>T	9.37:g.130652973G>A	ENSP00000362239:p.Ser216Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.S216F	ENST00000373146.1	37	c.647	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243128	0.79912	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.81	5.81	0.92471	.	0.283144	0.41294	D	0.000904	T	0.60444	0.2269	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.987	T	0.63422	-0.6641	10	0.87932	D	0	-18.7763	18.6495	0.91425	0.0:0.0:1.0:0.0	.	182;216	Q969X2-2;Q969X2	.;SIA7F_HUMAN	F	216;182;216;182;216;182	ENSP00000362239:S216F;ENSP00000362234:S182F;ENSP00000362235:S216F;ENSP00000362237:S182F;ENSP00000291839:S216F;ENSP00000405326:S182F	ENSP00000291839:S216F	S	-	2	0	ST6GALNAC6	129692794	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	7.861000	0.87004	2.749000	0.94314	0.655000	0.94253	TCT	ST6GALNAC6	-	pfam_Glyco_trans_29		0.662	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	G	NM_013443		130652973	-1	no_errors	ENST00000291839	ensembl	human	known	70_37	missense	SNP	1.000	A
ST6GALNAC6	30815	genome.wustl.edu	37	9	130653221	130653221	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:130653221G>A	ENST00000373146.1	-	5	578	c.399C>T	c.(397-399)atC>atT	p.I133I	ST6GALNAC6_ENST00000373142.1_Silent_p.I133I|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.I99I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	133					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCATGCGGATTGTACACT	0.607																																																	0													95.0	85.0	88.0					9																	130653221		2203	4300	6503	SO:0001819	synonymous_variant	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.399C>T	9.37:g.130653221G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	pfam_Glyco_trans_29	p.I133	ENST00000373146.1	37	c.399	CCDS6882.1	9																																																																																			ST6GALNAC6	-	pfam_Glyco_trans_29		0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	G	NM_013443		130653221	-1	no_errors	ENST00000291839	ensembl	human	known	70_37	silent	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52552829	52552829	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:52552829G>C	ENST00000321725.6	+	48	5054	c.4978G>C	c.(4978-4980)Gag>Cag	p.E1660Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1660	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACCTGCTGGAGCAGGGGTA	0.706																																																	0													25.0	29.0	27.0					3																	52552829		2200	4299	6499	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4978G>C	3.37:g.52552829G>C	ENSP00000312946:p.Glu1660Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.E1660Q	ENST00000321725.6	37	c.4978	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	5.858	0.342446	0.11069	.	.	ENSG00000010327	ENST00000321725	D	0.91631	-2.88	5.25	4.38	0.52667	FAS1 domain (5);	0.723040	0.13497	N	0.383538	D	0.83986	0.5373	N	0.17278	0.47	0.18873	N	0.999981	P	0.44877	0.845	B	0.42959	0.403	T	0.72743	-0.4201	10	0.13853	T	0.58	.	8.0467	0.30553	0.0804:0.0:0.7625:0.157	.	1660	Q9NY15	STAB1_HUMAN	Q	1660	ENSP00000312946:E1660Q	ENSP00000312946:E1660Q	E	+	1	0	STAB1	52527869	0.110000	0.22057	0.804000	0.32291	0.016000	0.09150	0.300000	0.19156	1.207000	0.43291	0.650000	0.86243	GAG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.706	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52552829	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.605	C
STARD3	10948	genome.wustl.edu	37	17	37815315	37815315	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:37815315G>A	ENST00000336308.5	+	8	876	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	STARD3_ENST00000544210.2_Missense_Mutation_p.E220K|STARD3_ENST00000394250.4_Missense_Mutation_p.E202K|STARD3_ENST00000580611.1_Missense_Mutation_p.E194K|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	220					cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCTGACAATGAATCAGATGA	0.542																																																	0													222.0	215.0	217.0					17																	37815315		2203	4300	6503	SO:0001583	missense	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.658G>A	17.37:g.37815315G>A	ENSP00000337446:p.Glu220Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR	p.E220K	ENST00000336308.5	37	c.658	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428253	0.83667	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	D;D;D	0.85339	-1.96;-1.93;-1.97	5.0	5.0	0.66597	START-like domain (1);	0.447401	0.24606	N	0.037091	D	0.85952	0.5817	L	0.61218	1.895	0.49915	D	0.999832	B;P;B;B	0.34977	0.426;0.478;0.148;0.27	B;B;B;B	0.42245	0.381;0.341;0.069;0.092	D	0.84628	0.0688	10	0.34782	T	0.22	-16.4104	15.4337	0.75125	0.0:0.0:1.0:0.0	.	220;220;202;220	F5H0G2;B4DUY1;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	K	220;220;202	ENSP00000337446:E220K;ENSP00000439869:E220K;ENSP00000377794:E202K	ENSP00000337446:E220K	E	+	1	0	STARD3	35068841	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.460000	0.66691	2.314000	0.78098	0.655000	0.94253	GAA	STARD3	-	NULL		0.542	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1	G			37815315	+1	no_errors	ENST00000336308	ensembl	human	known	70_37	missense	SNP	1.000	A
STAT2	6773	genome.wustl.edu	37	12	56737278	56737278	+	Silent	SNP	C	C	T	rs372474228		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56737278C>T	ENST00000314128.4	-	24	2474	c.2451G>A	c.(2449-2451)ccG>ccA	p.P817P	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.P813P			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	817					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P817P(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGTCACCATTCGGCATGATTT	0.512																																																	1	Substitution - coding silent(1)	lung(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	124.0	94.0	104.0		2451,2439	-5.5	0.0	12		104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STAT2	NM_005419.3,NM_198332.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	817/852,813/848	56737278	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2451G>A	12.37:g.56737278C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.P817	ENST00000314128.4	37	c.2451	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT2_C		0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56737278	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.009	T
STIP1	10963	genome.wustl.edu	37	11	63961973	63961973	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:63961973C>G	ENST00000305218.4	+	4	531	c.384C>G	c.(382-384)ttC>ttG	p.F128L	STIP1_ENST00000543847.1_Missense_Mutation_p.F128L|STIP1_ENST00000538945.1_Missense_Mutation_p.F104L|STIP1_ENST00000358794.5_Missense_Mutation_p.F175L|STIP1_ENST00000540501.1_3'UTR	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	128					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F128L(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGAACCCTTTCAACATGCCTA	0.438																																																	1	Substitution - Missense(1)	lung(1)											113.0	108.0	109.0					11																	63961973		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.384C>G	11.37:g.63961973C>G	ENSP00000305958:p.Phe128Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	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.F128L	ENST00000305218.4	37	c.384	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	18.08	3.545017	0.65198	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.21191	2.02;2.02;2.09;2.02	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.77313	2.365	0.58432	D	0.999991	B;B;B	0.30104	0.268;0.041;0.16	B;B;B	0.36186	0.178;0.034;0.219	T	0.06285	-1.0835	10	0.29301	T	0.29	-31.4336	13.6364	0.62225	0.0:0.9242:0.0:0.0758	.	104;128;128	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	L	175;128;104;128	ENSP00000351646:F175L;ENSP00000305958:F128L;ENSP00000445957:F104L;ENSP00000442704:F128L	ENSP00000305958:F128L	F	+	3	2	STIP1	63718549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.024000	0.41049	1.490000	0.48466	0.650000	0.86243	TTC	STIP1	-	NULL		0.438	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	C	NM_006819		63961973	+1	no_errors	ENST00000305218	ensembl	human	known	70_37	missense	SNP	1.000	G
STMN1	3925	genome.wustl.edu	37	1	26229917	26229917	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:26229917G>C	ENST00000399728.1	-	3	550				STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000426559.2_Intron|STMN1_ENST00000374291.1_Intron|STMN1_ENST00000357865.2_Intron|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000455785.2_Intron	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1						axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		tccattatttgAGGCAACACC	0.393																																																	0																																										SO:0001627	intron_variant	3925			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.186+214C>G	1.37:g.26229917G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	RNA	SNP	-	NULL	ENST00000399728.1	37	NULL	CCDS269.1	1																																																																																			STMN1	-	-		0.393	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN1	HGNC	protein_coding	OTTHUMT00000019359.1	G	NM_005563		26229917	-1	no_errors	ENST00000465604	ensembl	human	known	70_37	rna	SNP	0.081	C
STK40	83931	genome.wustl.edu	37	1	36809771	36809771	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36809771G>A	ENST00000373129.3	-	9	1240	c.834C>T	c.(832-834)atC>atT	p.I278I	STK40_ENST00000373130.3_Silent_p.I283I|STK40_ENST00000373132.3_Silent_p.I278I|STK40_ENST00000359297.2_Silent_p.I278I	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GCTCCTGCGGGATGCTGTCGT	0.642																																																	0													92.0	76.0	82.0					1																	36809771		2203	4300	6503	SO:0001819	synonymous_variant	83931			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.834C>T	1.37:g.36809771G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I283	ENST00000373129.3	37	c.849	CCDS407.1	1																																																																																			STK40	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.642	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	HGNC	protein_coding	OTTHUMT00000022592.1	G	NM_032017		36809771	-1	no_errors	ENST00000373130	ensembl	human	known	70_37	silent	SNP	1.000	A
STRIP1	85369	genome.wustl.edu	37	1	110585817	110585817	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:110585817G>A	ENST00000369795.3	+	9	1015	c.993G>A	c.(991-993)atG>atA	p.M331I	STRIP1_ENST00000369796.1_Missense_Mutation_p.M236I	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	331					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TTCGCAACATGAGAGCAGCCT	0.587																																																	0													69.0	68.0	68.0					1																	110585817		2203	4300	6503	SO:0001583	missense	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.993G>A	1.37:g.110585817G>A	ENSP00000358810:p.Met331Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.M331I	ENST00000369795.3	37	c.993	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.693141	0.96793	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.50277	0.76;0.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.86953	2.85	0.80722	D	1	D;P	0.58620	0.983;0.647	P;P	0.56434	0.798;0.625	T	0.61884	-0.6971	10	0.31617	T	0.26	-35.6421	20.3409	0.98764	0.0:0.0:1.0:0.0	.	236;331	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	I	236;331	ENSP00000358811:M236I;ENSP00000358810:M331I	ENSP00000358810:M331I	M	+	3	0	FAM40A	110387340	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.396000	0.97270	2.814000	0.96858	0.655000	0.94253	ATG	STRIP1	-	pfam_N1221		0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	G	NM_033088		110585817	+1	no_errors	ENST00000369795	ensembl	human	known	70_37	missense	SNP	1.000	A
STRN	6801	genome.wustl.edu	37	2	37152346	37152346	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:37152346C>G	ENST00000263918.4	-	2	248	c.240G>C	c.(238-240)caG>caC	p.Q80H	STRN_ENST00000379213.2_Missense_Mutation_p.Q68H	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	80					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)				GGAAGGCAATCTGGGCCTGAG	0.378																																																	0													44.0	47.0	46.0					2																	37152346		2202	4299	6501	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.240G>C	2.37:g.37152346C>G	ENSP00000263918:p.Gln80His	Somatic		WXS	Illumina HiSeq	Phase_IV	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.Q80H	ENST00000263918.4	37	c.240	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174619	0.57692	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.66280	-0.2;-0.16	5.16	5.16	0.70880	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.71581	2.175	0.45554	D	0.998506	D;D	0.71674	0.993;0.998	P;D	0.75484	0.905;0.986	T	0.78740	-0.2086	10	0.87932	D	0	-9.1017	11.6684	0.51387	0.0:0.9137:0.0:0.0863	.	68;80	O43815-2;O43815	.;STRN_HUMAN	H	80;55;68	ENSP00000263918:Q80H;ENSP00000368513:Q68H	ENSP00000263918:Q80H	Q	-	3	2	STRN	37005850	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.289000	0.33307	2.376000	0.81061	0.650000	0.86243	CAG	STRN	-	pfam_Striatin_N		0.378	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	C			37152346	-1	no_errors	ENST00000263918	ensembl	human	known	70_37	missense	SNP	1.000	G
SUPT16H	11198	genome.wustl.edu	37	14	21831637	21831637	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:21831637G>A	ENST00000216297.2	-	11	1597	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	420					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTTCTTCACAGAAGTGAGAAC	0.343																																																	0													49.0	51.0	51.0					14																	21831637		2203	4299	6502	SO:0001583	missense	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1259C>T	14.37:g.21831637G>A	ENSP00000216297:p.Ser420Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.S420F	ENST00000216297.2	37	c.1259	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058184	0.55325	.	.	ENSG00000092201	ENST00000216297	T	0.76578	-1.03	5.0	5.0	0.66597	Peptidase M24, structural domain (2);	0.190431	0.47093	D	0.000246	T	0.67543	0.2904	L	0.29908	0.895	0.80722	D	1	B	0.34264	0.446	B	0.35073	0.195	T	0.69094	-0.5236	10	0.46703	T	0.11	-12.2621	12.214	0.54396	0.0:0.0:0.8293:0.1707	.	420	Q9Y5B9	SP16H_HUMAN	F	420	ENSP00000216297:S420F	ENSP00000216297:S420F	S	-	2	0	SUPT16H	20901477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.511000	0.73733	2.323000	0.78572	0.655000	0.94253	TCT	SUPT16H	-	superfamily_Pept_M24_structural-domain		0.343	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	G			21831637	-1	no_errors	ENST00000216297	ensembl	human	known	70_37	missense	SNP	1.000	A
SUPT4H1	6827	genome.wustl.edu	37	17	56429476	56429476	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:56429476C>T	ENST00000225504.3	-	1	87	c.21G>A	c.(19-21)ccG>ccA	p.P7P	BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|SUPT4H1_ENST00000577396.1_5'UTR|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000581540.1_5'Flank|SUPT4H1_ENST00000580947.1_Silent_p.P7P	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	7	Interaction with SUPT5H.				chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGTCCTTCGGCACCGTCT	0.607																																					NSCLC(25;723 896 19867 29219 40028)												0													52.0	46.0	48.0					17																	56429476		2203	4300	6503	SO:0001819	synonymous_variant	6827			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.21G>A	17.37:g.56429476C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Silent	SNP	pfam_Spt4/RpoE2_Znf,pirsf_Spt4	p.P7	ENST00000225504.3	37	c.21	CCDS11606.1	17																																																																																			SUPT4H1	-	pirsf_Spt4		0.607	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT4H1	HGNC	protein_coding	OTTHUMT00000444000.1	C	NM_003168		56429476	-1	no_errors	ENST00000225504	ensembl	human	known	70_37	silent	SNP	0.939	T
SUPT5H	6829	genome.wustl.edu	37	19	39962366	39962366	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39962366C>G	ENST00000599117.1	+	21	2313	c.1946C>G	c.(1945-1947)tCa>tGa	p.S649*	SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.S649*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.S649*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.S645*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.S645*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	649					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGGGGGCTCAAAGGTGAGG	0.587																																																	0													35.0	38.0	37.0					19																	39962366		2203	4300	6503	SO:0001587	stop_gained	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1946C>G	19.37:g.39962366C>G	ENSP00000470252:p.Ser649*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.S649*	ENST00000599117.1	37	c.1946	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.683392	0.98431	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.25	3.14	0.36123	.	0.054961	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2906	10.5085	0.44847	0.0:0.8394:0.0:0.1606	.	.	.	.	X	649;645;627;649	.	.	S	+	2	0	SUPT5H	44654206	1.000000	0.71417	0.785000	0.31869	0.648000	0.38561	4.716000	0.61916	0.593000	0.29745	-0.346000	0.07831	TCA	SUPT5H	-	pirsf_TF_Spt5		0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	C	NM_003169		39962366	+1	no_errors	ENST00000432763	ensembl	human	known	70_37	nonsense	SNP	0.997	G
SUPV3L1	6832	genome.wustl.edu	37	10	70968732	70968732	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:70968732G>A	ENST00000359655.4	+	15	2362	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	768	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAAAAACAGAGTCTGGGAC	0.388																																																	0													64.0	63.0	64.0					10																	70968732		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2302G>A	10.37:g.70968732G>A	ENSP00000352678:p.Glu768Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.E768K	ENST00000359655.4	37	c.2302	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	G	4.046	0.006220	0.07866	.	.	ENSG00000156502	ENST00000359655	T	0.32272	1.46	5.53	4.59	0.56863	.	0.557599	0.19131	N	0.121934	T	0.22244	0.0536	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.10660	-1.0620	10	0.16420	T	0.52	-8.0292	10.5209	0.44918	0.071:0.3501:0.5789:0.0	.	768	Q8IYB8	SUV3_HUMAN	K	768	ENSP00000352678:E768K	ENSP00000352678:E768K	E	+	1	0	SUPV3L1	70638738	0.002000	0.14202	0.010000	0.14722	0.003000	0.03518	0.941000	0.29005	2.592000	0.87571	0.650000	0.86243	GAG	SUPV3L1	-	NULL		0.388	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	G	NM_003171		70968732	+1	no_errors	ENST00000359655	ensembl	human	known	70_37	missense	SNP	0.003	A
SVEP1	79987	genome.wustl.edu	37	9	113312230	113312230	+	Missense_Mutation	SNP	C	C	G	rs201060222		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:113312230C>G	ENST00000401783.2	-	2	1022	c.686G>C	c.(685-687)cGa>cCa	p.R229P	SVEP1_ENST00000374461.1_Missense_Mutation_p.R206P|SVEP1_ENST00000374469.1_Missense_Mutation_p.R206P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R229P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	229	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTCAGCTCTCGAATGTTCCC	0.493																																																	0								C	PRO/ARG	0,3874		0,0,1937	112.0	106.0	108.0		686	5.5	1.0	9		108	8,8284		0,8,4138	yes	missense	SVEP1	NM_153366.3	103	0,8,6075	GG,GC,CC		0.0965,0.0,0.0658	probably-damaging	229/3572	113312230	8,12158	1937	4146	6083	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.686G>C	9.37:g.113312230C>G	ENSP00000384917:p.Arg229Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.R229P	ENST00000401783.2	37	c.686	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206101	0.79127	0.0	9.65E-4	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.066403	0.56097	D	0.000023	D	0.89491	0.6730	L	0.52364	1.645	0.39541	D	0.968821	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.986	D	0.90091	0.4177	10	0.66056	D	0.02	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	229;229;229	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	229;206;229;206	ENSP00000384917:R229P;ENSP00000363593:R206P;ENSP00000304118:R229P;ENSP00000363585:R206P	ENSP00000304118:R229P	R	-	2	0	SVEP1	112352051	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.683000	0.54663	2.737000	0.93849	0.563000	0.77884	CGA	SVEP1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113312230	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	G
SVIP	258010	genome.wustl.edu	37	11	22844582	22844582	+	3'UTR	SNP	A	A	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:22844582A>G	ENST00000354193.4	-	0	433				SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein						negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTACTCAAAGAGAAGAAATTA	0.323																																																	0													71.0	61.0	64.0					11																	22844582		692	1583	2275	SO:0001624	3_prime_UTR_variant	258010			AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.*83T>C	11.37:g.22844582A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000354193.4	37	NULL	CCDS41627.1	11																																																																																			SVIP	-	-		0.323	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SVIP	HGNC	protein_coding	OTTHUMT00000387725.2	A	NM_148893		22844582	-1	no_errors	ENST00000530199	ensembl	human	known	70_37	rna	SNP	0.484	G
SYMPK	8189	genome.wustl.edu	37	19	46347300	46347300	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:46347300C>T	ENST00000245934.7	-	8	1079	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	279					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGCAGAGTTTCATAGGCCTGG	0.502																																																	0													91.0	79.0	83.0					19																	46347300		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.835G>A	19.37:g.46347300C>T	ENSP00000245934:p.Glu279Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.E279K	ENST00000245934.7	37	c.835	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756710	0.89843	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.32530	0.975	0.80722	D	1	P;P	0.43750	0.727;0.816	B;B	0.43251	0.254;0.413	T	0.42378	-0.9455	9	0.22706	T	0.39	.	17.1808	0.86854	0.0:1.0:0.0:0.0	.	294;279	Q4LE61;Q92797	.;SYMPK_HUMAN	K	279	.	ENSP00000245934:E279K	E	-	1	0	SYMPK	51039140	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.489000	0.66875	2.638000	0.89438	0.557000	0.71058	GAA	SYMPK	-	pfam_DUF3453,superfamily_ARM-type_fold		0.502	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46347300	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152599288	152599288	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:152599288C>T	ENST00000367255.5	-	98	19110	c.18509G>A	c.(18508-18510)aGa>aAa	p.R6170K	SYNE1_ENST00000341594.5_Missense_Mutation_p.R5782K|SYNE1_ENST00000356820.4_Missense_Mutation_p.R694K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6099K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6099K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6170K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6170					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R6170I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGAGCCTTCTCAGCTTTCC	0.577										HNSCC(10;0.0054)																																							2	Substitution - Missense(2)	large_intestine(2)											105.0	108.0	107.0					6																	152599288		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18509G>A	6.37:g.152599288C>T	ENSP00000356224:p.Arg6170Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R6170K	ENST00000367255.5	37	c.18509	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311730	0.23821	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54279	0.68;0.66;0.58;0.67;0.8;1.0	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000011	T	0.38081	0.1027	M	0.67953	2.075	0.40112	D	0.976509	B;B;B;B	0.27013	0.166;0.034;0.034;0.056	B;B;B;B	0.23275	0.026;0.02;0.02;0.045	T	0.35919	-0.9769	10	0.16896	T	0.51	.	19.2791	0.94044	0.0:1.0:0.0:0.0	.	585;6170;6170;6099	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	6170;6099;6170;6099;5782;694	ENSP00000356224:R6170K;ENSP00000396024:R6099K;ENSP00000265368:R6170K;ENSP00000390975:R6099K;ENSP00000341887:R5782K;ENSP00000349276:R694K	ENSP00000265368:R6170K	R	-	2	0	SYNE1	152640981	0.992000	0.36948	0.825000	0.32803	0.957000	0.61999	3.053000	0.49901	2.612000	0.88384	0.563000	0.77884	AGA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.577	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152599288	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.979	T
SYNE2	23224	genome.wustl.edu	37	14	64473795	64473795	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64473795G>A	ENST00000344113.4	+	31	4644	c.4432G>A	c.(4432-4434)Gat>Aat	p.D1478N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D1478N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1478N|SYNE2_ENST00000357395.3_De_novo_Start_OutOfFrame	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1478					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)		TAAGGTTCTAGATGAATATGA	0.338																																																	0													131.0	122.0	125.0					14																	64473795		1827	4089	5916	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.4432G>A	14.37:g.64473795G>A	ENSP00000341781:p.Asp1478Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	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.D1478N	ENST00000344113.4	37	c.4432	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349518	0.61183	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55052	0.94;0.94;0.54	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000019	T	0.49813	0.1579	L	0.55481	1.735	0.80722	D	1	P;P	0.46142	0.8;0.873	B;B	0.42959	0.227;0.403	T	0.54543	-0.8278	10	0.56958	D	0.05	.	12.2422	0.54549	0.0783:0.0:0.9217:0.0	.	1478;1478	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	1478	ENSP00000350719:D1478N;ENSP00000341781:D1478N;ENSP00000452570:D1478N	ENSP00000261678:D1478N	D	+	1	0	SYNE2	63543548	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	2.595000	0.46197	2.628000	0.89032	0.655000	0.94253	GAT	SYNE2	-	smart_Spectrin/alpha-actinin		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64473795	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.997	A
SYNE2	23224	genome.wustl.edu	37	14	64473815	64473815	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64473815G>C	ENST00000344113.4	+	31	4664	c.4452G>C	c.(4450-4452)aaG>aaC	p.K1484N	SYNE2_ENST00000554584.1_Missense_Mutation_p.K1484N|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1484N|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1484					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)		AAGAAGAGAAGAGACATTTAC	0.348																																																	0													156.0	146.0	149.0					14																	64473815		1831	4093	5924	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.4452G>C	14.37:g.64473815G>C	ENSP00000341781:p.Lys1484Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	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.K1484N	ENST00000344113.4	37	c.4452	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.12	1.844067	0.32606	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58652	0.68;0.68;0.32	5.62	3.56	0.40772	.	0.425071	0.21880	N	0.067760	T	0.59662	0.2210	L	0.50333	1.59	0.51767	D	0.999938	D;D	0.59357	0.974;0.985	P;P	0.52957	0.521;0.714	T	0.61893	-0.6969	10	0.62326	D	0.03	.	9.4745	0.38862	0.2139:0.0:0.7861:0.0	.	1484;1484	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	1484	ENSP00000350719:K1484N;ENSP00000341781:K1484N;ENSP00000452570:K1484N	ENSP00000261678:K1484N	K	+	3	2	SYNE2	63543568	0.962000	0.33011	0.886000	0.34754	0.669000	0.39330	1.448000	0.35112	1.362000	0.46000	0.655000	0.94253	AAG	SYNE2	-	smart_Spectrin/alpha-actinin		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64473815	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.705	C
SYNE2	23224	genome.wustl.edu	37	14	64542813	64542813	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64542813G>A	ENST00000344113.4	+	54	11229	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	SYNE2_ENST00000394768.2_Missense_Mutation_p.E35K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3706K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3673K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E35K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E307K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3673					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)		AGACATAGATGAGAAGGTAAT	0.368																																																	0													67.0	65.0	66.0					14																	64542813		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.11017G>A	14.37:g.64542813G>A	ENSP00000341781:p.Glu3673Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E3673K	ENST00000344113.4	37	c.11017	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708529	0.68615	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.61392	0.46;3.82;0.46;0.11;3.81;3.82	5.76	5.76	0.90799	.	0.087960	0.49305	D	0.000143	T	0.68851	0.3046	L	0.32530	0.975	0.44117	D	0.996897	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74674	0.979;0.984;0.965;0.984	T	0.67719	-0.5598	10	0.51188	T	0.08	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	35;3707;3673;3673	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	3673;35;3673;3706;3706;307;35	ENSP00000350719:E3673K;ENSP00000349969:E35K;ENSP00000341781:E3673K;ENSP00000452570:E3706K;ENSP00000450831:E307K;ENSP00000378249:E35K	ENSP00000261678:E3706K	E	+	1	0	SYNE2	63612566	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.098000	0.76974	2.871000	0.98454	0.655000	0.94253	GAG	SYNE2	-	NULL		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64542813	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64653259	64653259	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64653259G>C	ENST00000344113.4	+	97	17886	c.17674G>C	c.(17674-17676)Gag>Cag	p.E5892Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2277Q|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5892Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2277Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2526Q|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5892					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)		GGAGCAAATAGAGCATTTGCA	0.493																																																	0													130.0	124.0	126.0					14																	64653259		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.17674G>C	14.37:g.64653259G>C	ENSP00000341781:p.Glu5892Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E5892Q	ENST00000344113.4	37	c.17674	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466130	0.43839	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.87	3.96	0.45880	.	0.249386	0.27518	N	0.019018	T	0.33614	0.0869	L	0.33245	0.995	0.80722	D	1	P;B;B;P	0.42941	0.794;0.044;0.165;0.622	B;B;B;B	0.44224	0.444;0.031;0.066;0.406	T	0.02121	-1.1210	10	0.27785	T	0.31	.	16.3081	0.82856	0.0:0.3741:0.6259:0.0	.	2277;280;5892;5892	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	5892;2277;5892;2526;2277	ENSP00000350719:E5892Q;ENSP00000349969:E2277Q;ENSP00000341781:E5892Q;ENSP00000450831:E2526Q;ENSP00000378249:E2277Q	ENSP00000341781:E5892Q	E	+	1	0	SYNE2	63723012	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	4.436000	0.59948	0.748000	0.32831	0.650000	0.86243	GAG	SYNE2	-	smart_Spectrin/alpha-actinin		0.493	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64653259	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.909	C
TTC23	64927	genome.wustl.edu	37	15	99673536	99673536	+	IGR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:99673536G>A	ENST00000394132.2	-	0	3849				RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_3'UTR|SYNM_ENST00000560674.1_3'UTR|SYNM_ENST00000328642.7_3'UTR			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23											endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTCTGGAGATGAATTTCTATG	0.338																																																	0																																										SO:0001628	intergenic_variant	23336				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344		15.37:g.99673536G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	RNA	SNP	-	NULL	ENST00000394132.2	37	NULL	CCDS10379.2	15																																																																																			SYNM	-	-		0.338	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000303953.2	G	NM_022905		99673536	+1	no_errors	ENST00000558420	ensembl	human	known	70_37	rna	SNP	0.000	A
SYT7	9066	genome.wustl.edu	37	11	61300491	61300491	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61300491G>A	ENST00000263846.4	-	4	648	c.321C>T	c.(319-321)ctC>ctT	p.L107L	SYT7_ENST00000542836.1_Silent_p.L151L|SYT7_ENST00000540677.1_Silent_p.L182L|SYT7_ENST00000539008.1_Silent_p.L390L|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Silent_p.L315L|SYT7_ENST00000535826.1_Silent_p.L226L	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	107					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGAGTTGACGAGGTCTGAGA	0.647																																																	0													111.0	99.0	103.0					11																	61300491		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.321C>T	11.37:g.61300491G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L107	ENST00000263846.4	37	c.321	CCDS31577.1	11																																																																																			SYT7	-	NULL		0.647	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61300491	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	0.998	A
SYTL2	54843	genome.wustl.edu	37	11	85435306	85435306	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:85435306G>A	ENST00000528231.1	-	8	1737				SYTL2_ENST00000359152.5_Nonsense_Mutation_p.Q1256*|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Nonsense_Mutation_p.Q732*|SYTL2_ENST00000354566.3_Nonsense_Mutation_p.Q732*|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCAGGTTCCTGAAGAGTCCCT	0.468																																																	0													82.0	80.0	81.0					11																	85435306		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3304C>T	11.37:g.85435306G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q1256*	ENST00000528231.1	37	c.3766	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527386	0.27299	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	.	.	.	5.4	4.48	0.54585	.	1.542250	0.03453	N	0.210927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5528	11.0543	0.47909	0.0:0.0:0.6618:0.3382	.	.	.	.	X	1256;732;732;151	.	.	Q	-	1	0	SYTL2	85112954	0.055000	0.20627	0.012000	0.15200	0.001000	0.01503	2.246000	0.43142	1.498000	0.48600	-0.181000	0.13052	CAG	SYTL2	-	NULL		0.468	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85435306	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	nonsense	SNP	0.002	A
TACC2	10579	genome.wustl.edu	37	10	124009176	124009176	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:124009176G>C	ENST00000369005.1	+	22	9118	c.8778G>C	c.(8776-8778)caG>caC	p.Q2926H	TACC2_ENST00000369000.1_Missense_Mutation_p.Q549H|TACC2_ENST00000260733.3_Missense_Mutation_p.Q1004H|TACC2_ENST00000368999.1_Missense_Mutation_p.Q1016H|TACC2_ENST00000358010.1_Missense_Mutation_p.Q1072H|TACC2_ENST00000515273.1_Missense_Mutation_p.Q2853H|TACC2_ENST00000369001.1_Missense_Mutation_p.Q553H|TACC2_ENST00000513429.1_Missense_Mutation_p.Q1072H|TACC2_ENST00000515603.1_Missense_Mutation_p.Q2804H|TACC2_ENST00000369004.3_Missense_Mutation_p.Q986H|TACC2_ENST00000453444.2_Missense_Mutation_p.Q2853H|TACC2_ENST00000360561.3_Missense_Mutation_p.Q974H|TACC2_ENST00000334433.3_Missense_Mutation_p.Q2926H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2926					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCTGGAGCAGAAGGTAATAG	0.672																																																	0													25.0	26.0	26.0					10																	124009176		2203	4299	6502	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8778G>C	10.37:g.124009176G>C	ENSP00000358001:p.Gln2926His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.Q2926H	ENST00000369005.1	37	c.8778	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109073	0.56398	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.16	4.24	0.50183	.	0.000000	0.34932	N	0.003571	T	0.59376	0.2189	L	0.58810	1.83	0.54753	D	0.999984	P;D;D;D;P;P;D;P;D	0.89917	0.933;0.999;0.961;0.999;0.911;0.567;1.0;0.855;0.961	D;D;D;D;P;P;D;P;D	0.91635	0.95;0.998;0.977;0.999;0.901;0.79;0.999;0.79;0.977	T	0.61168	-0.7117	10	0.72032	D	0.01	-13.6562	6.474	0.22024	0.2663:0.0:0.7337:0.0	.	2853;986;2804;2853;974;1004;549;1072;2926	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	H	2926;1072;2853;2804;2926;1072;2853;2839;553;549;974;1016;986;1004	ENSP00000358001:Q2926H;ENSP00000425062:Q1072H;ENSP00000424467:Q2853H;ENSP00000427618:Q2804H;ENSP00000334280:Q2926H;ENSP00000350701:Q1072H;ENSP00000395048:Q2853H;ENSP00000357997:Q553H;ENSP00000357996:Q549H;ENSP00000353763:Q974H;ENSP00000357995:Q1016H;ENSP00000422815:Q986H;ENSP00000260733:Q1004H	ENSP00000260733:Q1004H	Q	+	3	2	TACC2	123999166	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	2.164000	0.42387	2.573000	0.86826	0.655000	0.94253	CAG	TACC2	-	pfam_TACC		0.672	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	G			124009176	+1	no_errors	ENST00000334433	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF4B	6875	genome.wustl.edu	37	18	23854695	23854695	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:23854695G>C	ENST00000269142.5	+	4	1664	c.666G>C	c.(664-666)ctG>ctC	p.L222L	TAF4B_ENST00000578121.1_Silent_p.L222L|TAF4B_ENST00000400466.2_Silent_p.L222L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	222					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TAACTACCCTGAAGCCTTCAA	0.428																																																	0													155.0	148.0	150.0					18																	23854695		1891	4120	6011	SO:0001819	synonymous_variant	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.666G>C	18.37:g.23854695G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q29YA4|Q29YA5	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.L222	ENST00000269142.5	37	c.666	CCDS42421.1	18																																																																																			TAF4B	-	NULL		0.428	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	G	NM_005640		23854695	+1	no_errors	ENST00000269142	ensembl	human	known	70_37	silent	SNP	0.993	C
TANC2	26115	genome.wustl.edu	37	17	61315253	61315253	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:61315253G>A	ENST00000424789.2	+	6	630	c.626G>A	c.(625-627)gGa>gAa	p.G209E	TANC2_ENST00000389520.4_Missense_Mutation_p.G209E|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	209					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGATCTGGAGGAAACATAAAA	0.373																																																	0													44.0	42.0	42.0					17																	61315253		1825	4098	5923	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.626G>A	17.37:g.61315253G>A	ENSP00000387593:p.Gly209Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G209E	ENST00000424789.2	37	c.626	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827545	0.90955	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.55588	0.51;0.51	6.06	6.06	0.98353	.	.	.	.	.	T	0.68165	0.2971	L	0.53249	1.67	0.80722	D	1	D;D	0.62365	0.991;0.985	D;P	0.64237	0.923;0.84	T	0.60398	-0.7271	9	0.31617	T	0.26	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	209;209	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	E	209	ENSP00000374171:G209E;ENSP00000387593:G209E	ENSP00000374171:G209E	G	+	2	0	TANC2	58668985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GGA	TANC2	-	NULL		0.373	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61315253	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	A
TAOK2	9344	genome.wustl.edu	37	16	29997591	29997591	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:29997591G>A	ENST00000308893.4	+	16	3041	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	TAOK2_ENST00000543033.1_Silent_p.L666L|TAOK2_ENST00000416441.2_Silent_p.L493L|TAOK2_ENST00000279394.3_Silent_p.L666L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	666					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCAGGACCTGAACAAGAAGC	0.642																																																	0													80.0	79.0	79.0					16																	29997591		2197	4300	6497	SO:0001819	synonymous_variant	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1998G>A	16.37:g.29997591G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L666	ENST00000308893.4	37	c.1998	CCDS10663.1	16																																																																																			TAOK2	-	NULL		0.642	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29997591	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	silent	SNP	1.000	A
TAP1	6890	genome.wustl.edu	37	6	32814865	32814865	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32814865C>T	ENST00000354258.4	-	10	2361	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	PSMB8_ENST00000374881.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.D473N|PSMB9_ENST00000395330.1_Intron|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	734	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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 peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CTGTTTGCATCCAGGGCACTG	0.498																																																	0													150.0	150.0	150.0					6																	32814865		1511	2709	4220	SO:0001583	missense	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2200G>A	6.37:g.32814865C>T	ENSP00000346206:p.Asp734Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16149|Q96CP4	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.D734N	ENST00000354258.4	37	c.2200	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.313391	0.95655	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.95756	-3.8;-3.8	5.43	5.43	0.79202	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.49916	D	0.000127	D	0.98501	0.9500	H	0.96365	3.81	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99659	1.0993	10	0.87932	D	0	-8.5464	16.7475	0.85476	0.0:1.0:0.0:0.0	.	734	Q03518	TAP1_HUMAN	N	734;473	ENSP00000346206:D734N;ENSP00000401919:D473N	ENSP00000346206:D734N	D	-	1	0	TAP1	32922843	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.852000	0.75430	2.552000	0.86080	0.643000	0.83706	GAT	TAP1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2		0.498	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	C	NM_000593		32814865	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	missense	SNP	1.000	T
TAP1	6890	genome.wustl.edu	37	6	32818836	32818836	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32818836C>T	ENST00000354258.4	-	4	1276	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	TAP1_ENST00000425148.2_Missense_Mutation_p.R111Q|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	372	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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 peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	ACATAGGCCTCGCACCAGGTA	0.532																																																	0													165.0	128.0	141.0					6																	32818836		1511	2709	4220	SO:0001583	missense	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1115G>A	6.37:g.32818836C>T	ENSP00000346206:p.Arg372Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16149|Q96CP4	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.R372Q	ENST00000354258.4	37	c.1115	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750551	0.89753	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.89270	-2.49;-2.49	4.51	4.51	0.55191	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38492	N	0.001666	D	0.91650	0.7361	M	0.64260	1.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91020	0.4856	10	0.42905	T	0.14	-14.0418	14.7846	0.69793	0.0:1.0:0.0:0.0	.	372	Q03518	TAP1_HUMAN	Q	372;111	ENSP00000346206:R372Q;ENSP00000401919:R111Q	ENSP00000346206:R372Q	R	-	2	0	TAP1	32926814	0.991000	0.36638	0.847000	0.33407	0.802000	0.45316	4.768000	0.62293	2.347000	0.79759	0.551000	0.68910	CGA	TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	C	NM_000593		32818836	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	missense	SNP	0.985	T
TAP1	6890	genome.wustl.edu	37	6	32818868	32818868	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32818868C>T	ENST00000354258.4	-	4	1244	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	TAP1_ENST00000425148.2_Silent_p.E100E|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	361	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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 peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGCTCAGATTCTCACTCAGAG	0.532																																																	0													145.0	107.0	121.0					6																	32818868		1511	2709	4220	SO:0001819	synonymous_variant	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1083G>A	6.37:g.32818868C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16149|Q96CP4	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.E361	ENST00000354258.4	37	c.1083	CCDS4758.1	6																																																																																			TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	C	NM_000593		32818868	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	silent	SNP	0.000	T
TAS1R1	80835	genome.wustl.edu	37	1	6638937	6638937	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:6638937C>T	ENST00000333172.6	+	6	2012	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Missense_Mutation_p.L353F|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	607					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGTGCTTTCTTATGCTGGG	0.622																																																	0													49.0	48.0	48.0					1																	6638937		2203	4300	6503	SO:0001583	missense	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1819C>T	1.37:g.6638937C>T	ENSP00000331867:p.Leu607Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L607F	ENST00000333172.6	37	c.1819	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640020	0.47153	.	.	ENSG00000173662	ENST00000333172;ENST00000437392;ENST00000351136	D;D	0.91180	-2.8;-2.8	5.19	3.27	0.37495	GPCR, family 3, C-terminal (2);	0.153419	0.45361	N	0.000373	D	0.88142	0.6357	L	0.52759	1.655	0.80722	D	1	B;B	0.31241	0.099;0.315	B;B	0.37650	0.067;0.255	D	0.84292	0.0500	10	0.52906	T	0.07	.	10.1154	0.42587	0.0:0.8335:0.0:0.1665	.	353;607	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	F	607;275;353	ENSP00000331867:L607F;ENSP00000312558:L353F	ENSP00000331867:L607F	L	+	1	0	TAS1R1	6561524	1.000000	0.71417	0.999000	0.59377	0.640000	0.38277	1.166000	0.31834	0.528000	0.28580	0.655000	0.94253	CTT	TAS1R1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.622	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	C			6638937	+1	no_errors	ENST00000333172	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS1R2	80834	genome.wustl.edu	37	1	19180795	19180795	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:19180795G>C	ENST00000375371.3	-	3	1190	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	390					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATAGACCGCAGAGTACACGCT	0.597																																																	0													105.0	93.0	97.0					1																	19180795		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1169C>G	1.37:g.19180795G>C	ENSP00000364520:p.Ser390Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S390C	ENST00000375371.3	37	c.1169	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208494	0.22205	.	.	ENSG00000179002	ENST00000375371	D	0.83163	-1.69	4.41	3.47	0.39725	Extracellular ligand-binding receptor (1);	1.117080	0.06950	N	0.814355	D	0.87811	0.6271	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	P	0.62649	0.905	T	0.74244	-0.3728	10	0.56958	D	0.05	.	6.9728	0.24658	0.2053:0.0:0.7947:0.0	.	390	Q8TE23	TS1R2_HUMAN	C	390	ENSP00000364520:S390C	ENSP00000364520:S390C	S	-	2	0	TAS1R2	19053382	1.000000	0.71417	0.136000	0.22124	0.117000	0.20001	3.750000	0.55157	2.287000	0.76781	0.462000	0.41574	TCT	TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.597	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19180795	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.147	C
TAX1BP1	8887	genome.wustl.edu	37	7	27842752	27842752	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:27842752G>A	ENST00000396319.2	+	13	1852				TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E597K|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1						apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GAAAGACAAAGAAATAAGTGG	0.323																																																	0																																										SO:0001627	intron_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1764+3043G>A	7.37:g.27842752G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	pfam_CoCoA	p.E597K	ENST00000396319.2	37	c.1789	CCDS5415.1	7	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041917	0.55003	.	.	ENSG00000106052	ENST00000409980;ENST00000457186	T	0.12569	2.67	5.54	2.73	0.32206	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02766	-1.1113	6	0.56958	D	0.05	-10.0696	4.0422	0.09756	0.1453:0.1278:0.5951:0.1318	.	.	.	.	K	597;152	ENSP00000386515:E597K	ENSP00000386515:E597K	E	+	1	0	TAX1BP1	27809277	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	1.283000	0.33237	0.381000	0.24851	-0.293000	0.09583	GAA	TAX1BP1	-	NULL		0.323	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	HGNC	protein_coding	OTTHUMT00000214142.1	G	NM_006024		27842752	+1	no_errors	ENST00000409980	ensembl	human	novel	70_37	missense	SNP	1.000	A
TBC1D25	4943	genome.wustl.edu	37	X	48399807	48399807	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48399807C>T	ENST00000376771.4	+	2	551	c.210C>T	c.(208-210)ctC>ctT	p.L70L	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	70					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCACATCCTCATCCGAGCCT	0.557																																																	0													171.0	142.0	152.0					X																	48399807		2203	4300	6503	SO:0001819	synonymous_variant	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.210C>T	X.37:g.48399807C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L70	ENST00000376771.4	37	c.210	CCDS35242.1	X																																																																																			TBC1D25	-	NULL		0.557	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	C	NM_002536		48399807	+1	no_errors	ENST00000376771	ensembl	human	known	70_37	silent	SNP	0.993	T
TBC1D3P5	440419	genome.wustl.edu	37	17	25748850	25748850	+	RNA	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:25748850C>G	ENST00000586223.1	+	0	751					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		ACACAGTGCTCACCCAGAGGA	0.617																																																	0																																												440419					17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25748850C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000586223.1	37	NULL		17																																																																																			TBC1D3P5	-	-		0.617	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	HGNC	pseudogene	OTTHUMT00000451073.1	C	NR_033892		25748850	+1	no_errors	ENST00000586223	ensembl	human	known	70_37	rna	SNP	0.016	G
TBK1	29110	genome.wustl.edu	37	12	64849669	64849669	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:64849669C>T	ENST00000331710.5	+	2	358	c.19C>T	c.(19-21)Cat>Tat	p.H7Y		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	7					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CACTTCTAATCATCTGTGGCT	0.368																																																	0													94.0	89.0	91.0					12																	64849669		2203	4300	6503	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.19C>T	12.37:g.64849669C>T	ENSP00000329967:p.His7Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H7Y	ENST00000331710.5	37	c.19	CCDS8968.1	12	.	.	.	.	.	.	.	.	.	.	C	3.913	-0.019706	0.07634	.	.	ENSG00000183735	ENST00000331710;ENST00000538890;ENST00000540417	T;T;T	0.62639	0.01;2.34;2.36	5.03	5.03	0.67393	.	0.133866	0.51477	D	0.000097	T	0.28366	0.0701	N	0.00991	-1.07	0.47819	D	0.999523	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	9	.	.	.	-10.019	10.0745	0.42351	0.0:0.8749:0.0:0.1251	.	7	Q9UHD2	TBK1_HUMAN	Y	7	ENSP00000329967:H7Y;ENSP00000445834:H7Y;ENSP00000445628:H7Y	.	H	+	1	0	TBK1	63135936	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.839000	0.62810	2.503000	0.84419	0.555000	0.69702	CAT	TBK1	-	NULL		0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	C	NM_013254		64849669	+1	no_errors	ENST00000331710	ensembl	human	known	70_37	missense	SNP	1.000	T
TBK1	29110	genome.wustl.edu	37	12	64890164	64890164	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:64890164G>A	ENST00000331710.5	+	16	2077	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	580					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTATAATGAAGAACAAATCCA	0.224																																																	0													24.0	28.0	26.0					12																	64890164		2139	4240	6379	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1738G>A	12.37:g.64890164G>A	ENSP00000329967:p.Glu580Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E580K	ENST00000331710.5	37	c.1738	CCDS8968.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953964	0.92660	.	.	ENSG00000183735	ENST00000331710	T	0.18174	2.23	4.86	4.86	0.63082	.	0.105242	0.64402	D	0.000007	T	0.31513	0.0799	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.01436	-1.1355	9	.	.	.	-14.8138	18.8914	0.92406	0.0:0.0:1.0:0.0	.	580	Q9UHD2	TBK1_HUMAN	K	580	ENSP00000329967:E580K	.	E	+	1	0	TBK1	63176431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.424000	0.90267	2.648000	0.89879	0.561000	0.74099	GAA	TBK1	-	NULL		0.224	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	G	NM_013254		64890164	+1	no_errors	ENST00000331710	ensembl	human	known	70_37	missense	SNP	1.000	A
TBX10	347853	genome.wustl.edu	37	11	67402720	67402720	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:67402720C>T	ENST00000335385.3	-	2	109	c.22G>A	c.(22-24)Ggc>Agc	p.G8S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	8					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ATGCCGAGGCCAGCAGATAGG	0.612																																																	0													55.0	57.0	56.0					11																	67402720		2200	4294	6494	SO:0001583	missense	347853			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.22G>A	11.37:g.67402720C>T	ENSP00000335191:p.Gly8Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D64|Q86XS3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.G8S	ENST00000335385.3	37	c.22	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250780	0.22880	.	.	ENSG00000167800	ENST00000335385	D	0.85556	-2.0	4.84	-3.24	0.05094	.	.	.	.	.	T	0.73953	0.3653	L	0.27053	0.805	0.19945	N	0.99994	B	0.06786	0.001	B	0.08055	0.003	T	0.57069	-0.7874	9	0.34782	T	0.22	.	11.9616	0.53011	0.0:0.2325:0.0:0.7675	.	8	O75333	TBX10_HUMAN	S	8	ENSP00000335191:G8S	ENSP00000335191:G8S	G	-	1	0	TBX10	67159296	0.212000	0.23540	0.002000	0.10522	0.012000	0.07955	-0.253000	0.08794	-0.481000	0.06792	0.462000	0.41574	GGC	TBX10	-	NULL		0.612	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	C	NM_005995		67402720	-1	no_errors	ENST00000335385	ensembl	human	known	70_37	missense	SNP	0.037	T
TCHHL1	126637	genome.wustl.edu	37	1	152059164	152059164	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152059164C>G	ENST00000368806.1	-	3	1058	c.994G>C	c.(994-996)Gac>Cac	p.D332H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	332							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTTGAGTGTCAAACATTCTA	0.468																																																	0													237.0	221.0	227.0					1																	152059164		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.994G>C	1.37:g.152059164C>G	ENSP00000357796:p.Asp332His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.D332H	ENST00000368806.1	37	c.994	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.518147	0.44763	.	.	ENSG00000182898	ENST00000368806	T	0.28069	1.63	4.94	4.0	0.46444	.	0.796012	0.10466	N	0.671389	T	0.11879	0.0289	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.30031	-0.9992	10	0.52906	T	0.07	-0.8694	11.5227	0.50560	0.0:0.8184:0.1816:0.0	.	332	Q5QJ38	TCHL1_HUMAN	H	332	ENSP00000357796:D332H	ENSP00000357796:D332H	D	-	1	0	TCHHL1	150325788	0.040000	0.19996	0.012000	0.15200	0.005000	0.04900	1.488000	0.35551	1.204000	0.43247	0.644000	0.83932	GAC	TCHHL1	-	NULL		0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	C	XM_060104		152059164	-1	no_errors	ENST00000368806	ensembl	human	known	70_37	missense	SNP	0.028	G
TCHH	7062	genome.wustl.edu	37	1	152084526	152084526	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152084526C>G	ENST00000368804.1	-	2	1166	c.1167G>C	c.(1165-1167)ctG>ctC	p.L389L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	389	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctcagctgctgct	0.721																																																	0																																										SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1167G>C	1.37:g.152084526C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L389	ENST00000368804.1	37	c.1167	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152084526	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent	SNP	0.000	G
TCOF1	6949	genome.wustl.edu	37	5	149755772	149755772	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149755772C>T	ENST00000504761.2	+	13	2021	c.2021C>T	c.(2020-2022)tCt>tTt	p.S674F	TCOF1_ENST00000513346.1_Missense_Mutation_p.S674F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S597F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S674F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S674F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S597F|TCOF1_ENST00000451292.1_Missense_Mutation_p.S674F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S674F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	674					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGCGACTTCTCCAGCAGGC	0.582																																																	0													108.0	126.0	120.0					5																	149755772		2201	4298	6499	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2021C>T	5.37:g.149755772C>T	ENSP00000421655:p.Ser674Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.S674F	ENST00000504761.2	37	c.2021	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735694	0.49045	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.1	3.05	0.35203	Treacher Collins syndrome, treacle (1);	0.642872	0.12995	N	0.422113	T	0.80281	0.4594	M	0.70595	2.14	0.09310	N	1	D;P;P;P;D;P;D	0.76494	0.997;0.899;0.899;0.899;0.999;0.899;0.962	D;P;P;P;D;P;P	0.72338	0.959;0.667;0.487;0.667;0.977;0.487;0.778	T	0.66500	-0.5908	10	0.72032	D	0.01	-6.2262	6.7565	0.23516	0.0:0.7419:0.0:0.2581	.	183;674;597;674;674;597;674	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	F	674;674;597;597;674;674;674;674;674	ENSP00000400939:S674F;ENSP00000367028:S674F;ENSP00000409944:S597F;ENSP00000325223:S597F;ENSP00000406888:S674F;ENSP00000377811:S674F;ENSP00000390717:S674F;ENSP00000421655:S674F;ENSP00000427484:S674F	ENSP00000325223:S597F	S	+	2	0	TCOF1	149735965	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	1.324000	0.33712	0.480000	0.27534	0.511000	0.50034	TCT	TCOF1	-	pfam_TCS_treacle		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	C	NM_001008656		149755772	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.001	T
TCTE1	202500	genome.wustl.edu	37	6	44255450	44255450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:44255450G>C	ENST00000371505.4	-	2	235	c.113C>G	c.(112-114)tCa>tGa	p.S38*	TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	38										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAAGGCTTTGAGAGCTGTGG	0.557																																																	0													214.0	151.0	172.0					6																	44255450		2203	4300	6503	SO:0001587	stop_gained	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.113C>G	6.37:g.44255450G>C	ENSP00000360560:p.Ser38*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX59|Q8IYS6	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S38*	ENST00000371505.4	37	c.113	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463007	0.63513	.	.	ENSG00000146221	ENST00000371505	.	.	.	3.89	-0.961	0.10337	.	2.506010	0.01555	N	0.019878	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0461	5.4733	0.16682	0.1552:0.3579:0.4869:0.0	.	.	.	.	X	38	.	ENSP00000360560:S38X	S	-	2	0	TCTE1	44363428	0.000000	0.05858	0.000000	0.03702	0.317000	0.28152	0.082000	0.14847	-0.183000	0.10585	0.411000	0.27672	TCA	TCTE1	-	NULL		0.557	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	G	NM_182539		44255450	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	nonsense	SNP	0.000	C
TDRD1	56165	genome.wustl.edu	37	10	115973251	115973251	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:115973251C>G	ENST00000369280.1	+	15	2438	c.1978C>G	c.(1978-1980)Cat>Gat	p.H660D	TDRD1_ENST00000251864.2_Missense_Mutation_p.H660D|TDRD1_ENST00000369281.2_Missense_Mutation_p.H603D|TDRD1_ENST00000369282.1_Missense_Mutation_p.H660D|TDRD1_ENST00000422662.1_Missense_Mutation_p.H264D			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	660					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGAGACGCCTCATGTCAGTGT	0.428																																																	0													154.0	143.0	147.0					10																	115973251		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1978C>G	10.37:g.115973251C>G	ENSP00000358286:p.His660Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.H660D	ENST00000369280.1	37	c.1978		10	.	.	.	.	.	.	.	.	.	.	C	6.311	0.425575	0.11987	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.16897	3.25;3.25;2.31;2.61;3.25	5.8	-7.73	0.01245	.	1.231740	0.05304	N	0.523532	T	0.16938	0.0407	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.001;0.001;0.001	T	0.31024	-0.9958	10	0.12766	T	0.61	0.0984	13.4259	0.61026	0.2347:0.641:0.1243:0.0	.	264;660;603;660;603	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	D	660;660;603;264;660	ENSP00000358288:H660D;ENSP00000251864:H660D;ENSP00000358287:H603D;ENSP00000402794:H264D;ENSP00000358286:H660D	ENSP00000251864:H660D	H	+	1	0	TDRD1	115963241	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.077000	0.11394	-1.854000	0.01163	-0.457000	0.05445	CAT	TDRD1	-	NULL		0.428	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	C			115973251	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.000	G
TECTA	7007	genome.wustl.edu	37	11	120998861	120998861	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:120998861C>T	ENST00000392793.1	+	9	2446	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	TECTA_ENST00000264037.2_Silent_p.D725D			O75443	TECTA_HUMAN	tectorin alpha	725	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACACCTTTGACGGCGCCTCCT	0.627																																																	0													96.0	83.0	87.0					11																	120998861		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2175C>T	11.37:g.120998861C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.D725	ENST00000392793.1	37	c.2175	CCDS8434.1	11																																																																																			TECTA	-	pfam_VWF_type-D,smart_VWF_type-D		0.627	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	C	NM_005422		120998861	+1	no_errors	ENST00000264037	ensembl	human	known	70_37	silent	SNP	0.245	T
TEKT1	83659	genome.wustl.edu	37	17	6704101	6704101	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6704101C>T	ENST00000338694.2	-	7	1143	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	TEKT1_ENST00000535086.1_Missense_Mutation_p.M192I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	338						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAACCTCCTTCATTAGCCTAT	0.562											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													220.0	194.0	203.0					17																	6704101		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1014G>A	17.37:g.6704101C>T	ENSP00000341346:p.Met338Ile	Somatic	636	WXS	Illumina HiSeq	Phase_IV	D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.M338I	ENST00000338694.2	37	c.1014	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	0.134	-1.110012	0.01813	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02050	4.48;4.48	5.84	-0.0775	0.13718	.	0.476655	0.24325	N	0.039512	T	0.00412	0.0013	N	0.00060	-2.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.02654	T	1	.	4.9476	0.13997	0.0703:0.238:0.4624:0.2292	.	338	Q969V4	TEKT1_HUMAN	I	338;192	ENSP00000341346:M338I;ENSP00000444142:M192I	ENSP00000341346:M338I	M	-	3	0	TEKT1	6644825	0.003000	0.15002	0.007000	0.13788	0.431000	0.31685	-0.263000	0.08670	0.146000	0.19002	-0.171000	0.13296	ATG	TEKT1	-	pfam_Tektin,prints_Tektin		0.562	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704101	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.065	T
ACTRT3	84517	genome.wustl.edu	37	3	169482441	169482441	+	IGR	SNP	G	G	A	rs199422282|rs199422284		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:169482441G>A	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											ACAGCTCAGGGAATCGCGCCG	0.687																																																	0			GRCh37	CR015303	TERC	R							26.0	25.0	25.0					3																	169482441		876	1991	2867	SO:0001628	intergenic_variant	7012			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482441G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IS0|Q96NJ0	RNA	SNP	-	NULL	ENST00000330368.2	37	NULL	CCDS3206.1	3																																																																																			TERC	-	-		0.687	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TERC	HGNC	protein_coding	OTTHUMT00000467797.1	G	NM_032487		169482441	-1	no_errors	ENST00000363312	ensembl	human	known	70_37	rna	SNP	0.955	A
TESK2	10420	genome.wustl.edu	37	1	45809796	45809796	+	3'UTR	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:45809796G>T	ENST00000372086.3	-	0	2832				TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TESK2_ENST00000341771.6_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TAAATACATAGAAGCAGGCCC	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.*716C>A	1.37:g.45809796G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	SNP	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			TESK2	-	-		0.423	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	G	NM_007170		45809796	-1	no_errors	ENST00000486676	ensembl	human	known	70_37	rna	SNP	0.942	T
TET2	54790	genome.wustl.edu	37	4	106158243	106158243	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:106158243C>G	ENST00000540549.1	+	3	4004	c.3144C>G	c.(3142-3144)ctC>ctG	p.L1048L	TET2_ENST00000513237.1_Silent_p.L1069L|TET2_ENST00000305737.2_Silent_p.L1048L|TET2_ENST00000545826.1_Silent_p.L1048L|TET2_ENST00000380013.4_Silent_p.L1048L|TET2_ENST00000394764.1_Silent_p.L1048L|TET2_ENST00000413648.2_Silent_p.L1048L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1048					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTCTTACTCTCAAATCACAGA	0.448			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													76.0	73.0	74.0					4																	106158243		2203	4300	6503	SO:0001819	synonymous_variant	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3144C>G	4.37:g.106158243C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.L1048	ENST00000540549.1	37	c.3144	CCDS47120.1	4																																																																																			TET2	-	NULL		0.448	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106158243	+1	no_errors	ENST00000380013	ensembl	human	known	70_37	silent	SNP	1.000	G
TET2	54790	genome.wustl.edu	37	4	106164850	106164850	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:106164850C>T	ENST00000540549.1	+	6	4578	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	TET2_ENST00000513237.1_Silent_p.L1261L|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Silent_p.L1240L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1240					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1240V(1)|p.L1240fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCCGCTGTCTCTGGCTGACAA	0.552			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Substitution - Missense(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)											169.0	154.0	159.0					4																	106164850		692	1591	2283	SO:0001819	synonymous_variant	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3718C>T	4.37:g.106164850C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.L1240	ENST00000540549.1	37	c.3718	CCDS47120.1	4																																																																																			TET2	-	NULL		0.552	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106164850	+1	no_errors	ENST00000380013	ensembl	human	known	70_37	silent	SNP	0.997	T
TEX15	56154	genome.wustl.edu	37	8	30700917	30700917	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:30700917C>T	ENST00000256246.2	-	1	5691	c.5617G>A	c.(5617-5619)Gag>Aag	p.E1873K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1873					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CGTACTGCCTCGTTGTTCTTA	0.363																																																	0													105.0	106.0	106.0					8																	30700917		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5617G>A	8.37:g.30700917C>T	ENSP00000256246:p.Glu1873Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E1873K	ENST00000256246.2	37	c.5617	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357174	0.41801	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.82	5.82	0.92795	.	0.121727	0.36893	N	0.002343	T	0.36963	0.0986	L	0.59436	1.845	0.39628	D	0.970132	D	0.89917	1.0	D	0.91635	0.999	T	0.03969	-1.0988	10	0.87932	D	0	.	18.8857	0.92376	0.0:1.0:0.0:0.0	.	1873	Q9BXT5	TEX15_HUMAN	K	1873	ENSP00000256246:E1873K	ENSP00000256246:E1873K	E	-	1	0	TEX15	30820459	0.996000	0.38824	0.895000	0.35142	0.162000	0.22319	3.664000	0.54525	2.765000	0.95021	0.650000	0.86243	GAG	TEX15	-	NULL		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700917	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.918	T
TEX15	56154	genome.wustl.edu	37	8	30700956	30700956	+	Missense_Mutation	SNP	C	C	G	rs144848758		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:30700956C>G	ENST00000256246.2	-	1	5652	c.5578G>C	c.(5578-5580)Gaa>Caa	p.E1860Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1860					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGATCATTTCTATGATAATC	0.338																																																	0													87.0	90.0	89.0					8																	30700956		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5578G>C	8.37:g.30700956C>G	ENSP00000256246:p.Glu1860Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E1860Q	ENST00000256246.2	37	c.5578	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402102	0.62288	.	.	ENSG00000133863	ENST00000256246	T	0.14516	2.5	5.82	5.82	0.92795	.	0.218230	0.31519	N	0.007511	T	0.36635	0.0974	L	0.59436	1.845	0.35446	D	0.795293	D	0.89917	1.0	D	0.77557	0.99	T	0.29761	-1.0001	10	0.87932	D	0	.	18.8857	0.92376	0.0:1.0:0.0:0.0	.	1860	Q9BXT5	TEX15_HUMAN	Q	1860	ENSP00000256246:E1860Q	ENSP00000256246:E1860Q	E	-	1	0	TEX15	30820498	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.685000	0.46959	2.765000	0.95021	0.650000	0.86243	GAA	TEX15	-	NULL		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700956	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	G
TEX15	56154	genome.wustl.edu	37	8	30703646	30703646	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:30703646C>T	ENST00000256246.2	-	1	2962	c.2888G>A	c.(2887-2889)cGa>cAa	p.R963Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	963					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTTTAATTCGTCCTTGGGA	0.343																																																	0													119.0	119.0	119.0					8																	30703646		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2888G>A	8.37:g.30703646C>T	ENSP00000256246:p.Arg963Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R963Q	ENST00000256246.2	37	c.2888	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120739	0.77436	.	.	ENSG00000133863	ENST00000256246	T	0.23147	1.92	5.62	4.75	0.60458	.	0.150305	0.29602	N	0.011696	T	0.36826	0.0981	L	0.53249	1.67	0.28556	N	0.911388	D	0.76494	0.999	P	0.56865	0.808	T	0.29150	-1.0021	10	0.87932	D	0	.	8.5022	0.33165	0.0:0.8256:0.0:0.1744	.	963	Q9BXT5	TEX15_HUMAN	Q	963	ENSP00000256246:R963Q	ENSP00000256246:R963Q	R	-	2	0	TEX15	30823188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.460000	0.35244	1.378000	0.46305	0.467000	0.42956	CGA	TEX15	-	NULL		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30703646	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	T
TGFBR3	7049	genome.wustl.edu	37	1	92195496	92195496	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:92195496C>T	ENST00000525962.1	-	5	664	c.603G>A	c.(601-603)aaG>aaA	p.K201K	TGFBR3_ENST00000212355.4_Silent_p.K201K|TGFBR3_ENST00000370399.2_Silent_p.K201K|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	201					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGAGAAAATTCTTCCCTATGT	0.468																																																	0													171.0	160.0	163.0					1																	92195496		2203	4300	6503	SO:0001819	synonymous_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.603G>A	1.37:g.92195496C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.K201	ENST00000525962.1	37	c.603	CCDS30770.1	1																																																																																			TGFBR3	-	NULL		0.468	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	C	NM_003243		92195496	-1	no_errors	ENST00000212355	ensembl	human	known	70_37	silent	SNP	1.000	T
THADA	63892	genome.wustl.edu	37	2	43711417	43711417	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:43711417G>A	ENST00000405006.4	-	26	4188				THADA_ENST00000415080.2_Intron|THADA_ENST00000405975.2_Intron|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated											breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATCACAAAATGATTTCATATT	0.269																																																	0																																										SO:0001627	intron_variant	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3836+955C>T	2.37:g.43711417G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	RNA	SNP	-	NULL	ENST00000405006.4	37	NULL	CCDS46268.1	2																																																																																			THADA	-	-		0.269	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	G	NM_022065		43711417	-1	no_errors	ENST00000436947	ensembl	human	known	70_37	rna	SNP	0.088	A
TGOLN2	10618	genome.wustl.edu	37	2	85553825	85553825	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:85553825C>G	ENST00000409232.3	-	2	1091	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	TGOLN2_ENST00000282120.2_Missense_Mutation_p.E188Q|TGOLN2_ENST00000398263.2_Missense_Mutation_p.E286Q|TGOLN2_ENST00000444342.2_Missense_Mutation_p.E344Q|TGOLN2_ENST00000409015.1_Missense_Mutation_p.E344Q|TGOLN2_ENST00000377386.3_Missense_Mutation_p.E344Q			O43493	TGON2_HUMAN	trans-golgi network protein 2	344						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GACATCTTTTCTTTCTCTTCT	0.517																																																	0													73.0	72.0	72.0					2																	85553825		1890	4121	6011	SO:0001583	missense	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1030G>C	2.37:g.85553825C>G	ENSP00000386443:p.Glu344Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	NULL	p.E344Q	ENST00000409232.3	37	c.1030	CCDS56126.1	2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368370	0.61513	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.16597	2.62;2.48;2.33;2.64;2.6;2.61	3.91	2.99	0.34606	.	.	.	.	.	T	0.33030	0.0849	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.87578	0.998;0.998;0.998;0.919	T	0.05305	-1.0893	9	0.45353	T	0.12	.	6.8678	0.24102	0.0:0.863:0.0:0.137	.	344;344;286;344	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	Q	344;188;286;344;344;344	ENSP00000366603:E344Q;ENSP00000282120:E188Q;ENSP00000381312:E286Q;ENSP00000386443:E344Q;ENSP00000387035:E344Q;ENSP00000391190:E344Q	ENSP00000282120:E188Q	E	-	1	0	TGOLN2	85407336	0.000000	0.05858	0.125000	0.21846	0.064000	0.16182	0.253000	0.18296	0.917000	0.36895	0.655000	0.94253	GAA	TGOLN2	-	NULL		0.517	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	C	NM_006464		85553825	-1	no_errors	ENST00000377386	ensembl	human	known	70_37	missense	SNP	0.114	G
THAP9	79725	genome.wustl.edu	37	4	83827655	83827655	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:83827655G>C	ENST00000302236.5	+	3	506	c.455G>C	c.(454-456)aGa>aCa	p.R152T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	152					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCCAAAAAAAGACTTATCTCC	0.383																																																	0													87.0	83.0	84.0					4																	83827655		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.455G>C	4.37:g.83827655G>C	ENSP00000305533:p.Arg152Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R152T	ENST00000302236.5	37	c.455	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430482	0.12045	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.37058	1.22	3.87	3.03	0.35002	.	0.403983	0.18548	N	0.137991	T	0.19927	0.0479	N	0.22421	0.69	0.09310	N	1	B	0.27498	0.18	B	0.18871	0.023	T	0.11941	-1.0567	10	0.24483	T	0.36	-5.5751	7.307	0.26453	0.1184:0.0:0.8816:0.0	.	152	Q9H5L6	THAP9_HUMAN	T	152	ENSP00000305533:R152T	ENSP00000305533:R152T	R	+	2	0	THAP9	84046679	0.818000	0.29161	0.022000	0.16811	0.932000	0.56968	1.448000	0.35112	1.218000	0.43458	0.591000	0.81541	AGA	THAP9	-	NULL		0.383	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827655	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.028	C
THAP9	79725	genome.wustl.edu	37	4	83827726	83827726	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:83827726G>A	ENST00000302236.5	+	3	577	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	176					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGCACTTGTAGAAGAGAAACT	0.358																																																	0													64.0	64.0	64.0					4																	83827726		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.526G>A	4.37:g.83827726G>A	ENSP00000305533:p.Glu176Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E176K	ENST00000302236.5	37	c.526	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799913	0.50208	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.37058	1.22	3.87	3.0	0.34707	.	0.441198	0.19366	N	0.116024	T	0.21267	0.0512	L	0.29908	0.895	0.27337	N	0.956627	P	0.42908	0.793	B	0.35655	0.207	T	0.07195	-1.0785	10	0.21540	T	0.41	-18.3958	9.459	0.38772	0.0:0.216:0.784:0.0	.	176	Q9H5L6	THAP9_HUMAN	K	176	ENSP00000305533:E176K	ENSP00000305533:E176K	E	+	1	0	THAP9	84046750	1.000000	0.71417	0.962000	0.40283	0.992000	0.81027	1.514000	0.35834	1.176000	0.42840	0.591000	0.81541	GAA	THAP9	-	NULL		0.358	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827726	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.972	A
THBD	7056	genome.wustl.edu	37	20	23029751	23029751	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:23029751G>A	ENST00000377103.2	-	1	627	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCGCAGAGGGGAGCCCCATTG	0.672																																																	0													19.0	13.0	15.0					20																	23029751		2167	4245	6412	SO:0001583	missense	7056				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.391C>T	20.37:g.23029751G>A	ENSP00000366307:p.Pro131Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IV29|Q9UC32	Missense_Mutation	SNP	pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin	p.P131S	ENST00000377103.2	37	c.391	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	6.439	0.449122	0.12223	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.78816	-1.21	5.71	2.59	0.31030	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.443316	0.19328	U	0.116966	T	0.69584	0.3127	M	0.74258	2.255	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.59101	-0.7517	10	0.38643	T	0.18	-10.3976	1.3298	0.02132	0.1668:0.1993:0.3966:0.2373	.	131	P07204	TRBM_HUMAN	S	131;113	ENSP00000366307:P131S	ENSP00000366307:P131S	P	-	1	0	THBD	22977751	0.998000	0.40836	0.216000	0.23742	0.174000	0.22865	3.307000	0.51888	1.422000	0.47177	0.549000	0.68633	CCC	THBD	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141,pfscan_C-type_lectin		0.672	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	G			23029751	-1	no_errors	ENST00000377103	ensembl	human	known	70_37	missense	SNP	0.045	A
THEM4	117145	genome.wustl.edu	37	1	151861894	151861894	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:151861894G>A	ENST00000368814.3	-	3	636				THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4						epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGGTGAGAGAAATGCCATG	0.443																																																	0													54.0	55.0	54.0					1																	151861894		2203	4300	6503	SO:0001627	intron_variant	117145			AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.287-45C>T	1.37:g.151861894G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX2|Q96KR2	RNA	SNP	-	NULL	ENST00000368814.3	37	NULL	CCDS1006.1	1																																																																																			THEM4	-	-		0.443	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM4	HGNC	protein_coding	OTTHUMT00000036615.1	G	NM_053055		151861894	-1	no_errors	ENST00000477437	ensembl	human	known	70_37	rna	SNP	0.011	A
THOC7	80145	genome.wustl.edu	37	3	63819876	63819876	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:63819876C>G	ENST00000295899.5	-	8	660		c.e8-1		C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'Flank	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTTTCATCATCTGTAATTGAG	0.368																																					Colon(48;665 1127 6720 18651)												0													159.0	137.0	145.0					3																	63819876		2203	4300	6503	SO:0001630	splice_region_variant	80145			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.548-1G>C	3.37:g.63819876C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1L3|Q8WUF2|Q9H5H0	Splice_Site	SNP	-	e8-1	ENST00000295899.5	37	c.548-1	CCDS2900.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259759	0.80246	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4944	0.90860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC7	63794916	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.182000	0.65059	2.814000	0.96858	0.585000	0.79938	.	THOC7	-	-		0.368	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC7	HGNC	protein_coding	OTTHUMT00000352096.1	C	NM_025075	Intron	63819876	-1	no_errors	ENST00000295899	ensembl	human	known	70_37	splice_site	SNP	1.000	G
THSD7B	80731	genome.wustl.edu	37	2	137748495	137748495	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:137748495C>G	ENST00000413152.2	+	1	34	c.34C>G	c.(34-36)Cac>Gac	p.H12D	THSD7B_ENST00000272643.3_Intron|THSD7B_ENST00000409968.1_Intron	NM_001080427.1	NP_001073896.1	Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	242						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTTGTATCACAAATTAGC	0.388																																																	0													103.0	98.0	100.0					2																	137748495		1885	4119	6004	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000413152.2:c.34C>G	2.37:g.137748495C>G	ENSP00000413841:p.His12Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.H12D	ENST00000413152.2	37	c.34		2	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630815	0.14322	.	.	ENSG00000144229	ENST00000413152	T	0.21191	2.02	4.7	0.512	0.16994	.	.	.	.	.	T	0.08935	0.0221	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.31392	-0.9945	9	0.36615	T	0.2	.	4.1075	0.10043	0.3365:0.4783:0.0:0.1852	.	12	C9JKN6	.	D	12	ENSP00000413841:H12D	ENSP00000413841:H12D	H	+	1	0	THSD7B	137464965	0.004000	0.15560	0.000000	0.03702	0.171000	0.22731	0.308000	0.19314	0.151000	0.19162	0.655000	0.94253	CAC	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.388	THSD7B-202	KNOWN	basic	protein_coding	THSD7B	HGNC	protein_coding		C	XM_046570.9		137748495	+1	no_errors	ENST00000413152	ensembl	human	known	70_37	missense	SNP	0.000	G
TIAM2	26230	genome.wustl.edu	37	6	155458520	155458520	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:155458520G>C	ENST00000461783.3	+	7	2677	c.1404G>C	c.(1402-1404)atG>atC	p.M468I	TIAM2_ENST00000318981.5_Missense_Mutation_p.M468I|TIAM2_ENST00000529824.2_Missense_Mutation_p.M468I|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M468I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	468					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTTGGAAATGAGCAGGACCA	0.493																																																	0													105.0	113.0	110.0					6																	155458520		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1404G>C	6.37:g.155458520G>C	ENSP00000437188:p.Met468Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.M468I	ENST00000461783.3	37	c.1404	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787250	0.31593	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.49;3.54;3.54;3.49	6.08	5.2	0.72013	.	0.181406	0.64402	N	0.000013	T	0.06096	0.0158	M	0.75264	2.295	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.04593	-1.0940	10	0.72032	D	0.01	.	17.1783	0.86848	0.0:0.1382:0.8618:0.0	.	468;468	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	I	468;714;468;468;468;468;468	ENSP00000437188:M468I;ENSP00000434901:M468I;ENSP00000407746:M468I;ENSP00000327315:M468I;ENSP00000353528:M468I;ENSP00000433348:M468I	ENSP00000327315:M468I	M	+	3	0	TIAM2	155500212	1.000000	0.71417	0.999000	0.59377	0.231000	0.25187	2.824000	0.48088	1.548000	0.49413	0.655000	0.94253	ATG	TIAM2	-	NULL		0.493	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	G	NM_012454		155458520	+1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	1.000	C
TIAM2	26230	genome.wustl.edu	37	6	155561820	155561820	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:155561820G>C	ENST00000461783.3	+	18	4598	c.3325G>C	c.(3325-3327)Gac>Cac	p.D1109H	TIAM2_ENST00000318981.5_Missense_Mutation_p.D1109H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1109H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D421H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D445H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D34H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D485H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1109H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1133H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1109	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGCTTGTGGACACAGAGAA	0.562																																																	0													51.0	50.0	50.0					6																	155561820		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3325G>C	6.37:g.155561820G>C	ENSP00000437188:p.Asp1109His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.D1109H	ENST00000461783.3	37	c.3325	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844488	0.91197	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.09	5.09	0.68999	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	L	0.54863	1.705	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.97110	0.996;1.0;1.0;0.981	T	0.74657	-0.3592	10	0.87932	D	0	.	16.6758	0.85278	0.0:0.0:1.0:0.0	.	445;1109;1133;1109	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1109;1355;1109;1109;1109;485;1133;1109;421;445;34;47	ENSP00000437188:D1109H;ENSP00000434901:D1109H;ENSP00000407746:D1109H;ENSP00000327315:D1109H;ENSP00000356142:D485H;ENSP00000353528:D1133H;ENSP00000433348:D1109H;ENSP00000407183:D421H;ENSP00000435335:D445H;ENSP00000275246:D34H;ENSP00000431269:D47H	ENSP00000275246:D34H	D	+	1	0	TIAM2	155603512	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.251000	0.95483	2.362000	0.80069	0.491000	0.48974	GAC	TIAM2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	G	NM_012454		155561820	+1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	1.000	C
TICAM1	148022	genome.wustl.edu	37	19	4816923	4816923	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:4816923G>C	ENST00000248244.5	-	2	1696	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	489					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCAGGGGCAGGAAGGGGATGA	0.647																																																	0													40.0	38.0	39.0					19																	4816923		2203	4299	6502	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1467C>G	19.37:g.4816923G>C	ENSP00000248244:p.Phe489Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.F489L	ENST00000248244.5	37	c.1467	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224321	0.39300	.	.	ENSG00000127666	ENST00000248244	T	0.39997	1.05	4.73	3.69	0.42338	.	0.188899	0.25922	N	0.027422	T	0.27559	0.0677	N	0.25647	0.755	0.26955	N	0.965947	B	0.20780	0.048	B	0.22386	0.039	T	0.14504	-1.0470	10	0.27082	T	0.32	-23.064	8.5804	0.33626	0.1971:0.0:0.8029:0.0	.	489	Q8IUC6	TCAM1_HUMAN	L	489	ENSP00000248244:F489L	ENSP00000248244:F489L	F	-	3	2	TICAM1	4767923	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	1.447000	0.35101	1.115000	0.41800	0.313000	0.20887	TTC	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.647	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4816923	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	1.000	C
TIGIT	201633	genome.wustl.edu	37	3	114014651	114014651	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:114014651C>T	ENST00000486257.1	+	3	578	c.321C>T	c.(319-321)ttC>ttT	p.F107F	TIGIT_ENST00000481065.1_Silent_p.F174F|TIGIT_ENST00000383671.3_Silent_p.F107F			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	107	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GGGAGTACTTCTGCATCTATC	0.567																																																	0													88.0	83.0	85.0					3																	114014651		2203	4300	6503	SO:0001819	synonymous_variant	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.321C>T	3.37:g.114014651C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.F107	ENST00000486257.1	37	c.321	CCDS2980.1	3																																																																																			TIGIT	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like		0.567	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	C	NM_173799		114014651	+1	no_errors	ENST00000383671	ensembl	human	known	70_37	silent	SNP	0.923	T
TLK2	11011	genome.wustl.edu	37	17	60679417	60679417	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:60679417G>C	ENST00000326270.9	+	20	2069	c.1801G>C	c.(1801-1803)Gta>Cta	p.V601L	TLK2_ENST00000582809.1_Missense_Mutation_p.V430L|TLK2_ENST00000343388.7_Missense_Mutation_p.V547L|TLK2_ENST00000346027.5_Missense_Mutation_p.V579L|TLK2_ENST00000542523.1_Missense_Mutation_p.V547L	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TATTCTTTTAGTAAATGGTAC	0.343																																																	0													67.0	68.0	68.0					17																	60679417		2203	4300	6503	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1801G>C	17.37:g.60679417G>C	ENSP00000316512:p.Val601Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V601L	ENST00000326270.9	37	c.1801		17	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993325	0.54041	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.78	5.78	0.91487	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	0.33059	0.0850	N	0.17800	0.525	0.80722	D	1	D;P;P;B	0.76494	0.999;0.845;0.605;0.153	D;P;P;B	0.73708	0.981;0.503;0.503;0.18	T	0.04041	-1.0982	10	0.35671	T	0.21	.	18.996	0.92813	0.0:0.0:1.0:0.0	.	601;547;579;579	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	L	579;547;601;547	ENSP00000275780:V579L;ENSP00000340800:V547L;ENSP00000316512:V601L;ENSP00000442311:V547L	ENSP00000316512:V601L	V	+	1	0	TLK2	58033149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.561000	0.74099	GTA	TLK2	-	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		0.343	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	G	NM_006852		60679417	+1	no_errors	ENST00000326270	ensembl	human	known	70_37	missense	SNP	1.000	C
TMC6	11322	genome.wustl.edu	37	17	76117640	76117640	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76117640G>C	ENST00000590602.1	-	11	1539	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	TMC6_ENST00000392467.3_Missense_Mutation_p.I460M|TMC6_ENST00000591436.1_Missense_Mutation_p.I99M|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.I99M|TMC6_ENST00000322914.3_Missense_Mutation_p.I460M|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.I233M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	460					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCGCACCTGGATCATGAACT	0.697																																																	0													28.0	37.0	34.0					17																	76117640		2200	4299	6499	SO:0001583	missense	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1380C>G	17.37:g.76117640G>C	ENSP00000465261:p.Ile460Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.I460M	ENST00000590602.1	37	c.1380	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206465	0.22205	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71698	0.71;0.71;-0.59	4.19	0.234	0.15390	.	0.241545	0.40385	N	0.001111	T	0.65954	0.2741	L	0.51422	1.61	0.21719	N	0.999573	P;D;P;D	0.57899	0.928;0.981;0.798;0.967	P;P;B;P	0.51999	0.662;0.687;0.396;0.6	T	0.56792	-0.7920	10	0.33141	T	0.24	-16.7405	5.8003	0.18410	0.2019:0.0:0.642:0.1561	.	233;460;460;99	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	M	460;460;99	ENSP00000313408:I460M;ENSP00000376260:I460M;ENSP00000313479:I99M	ENSP00000313408:I460M	I	-	3	3	TMC6	73629235	0.000000	0.05858	0.134000	0.22075	0.125000	0.20455	0.083000	0.14871	0.195000	0.20347	0.462000	0.41574	ATC	TMC6	-	NULL		0.697	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76117640	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	0.691	C
TMCC1	23023	genome.wustl.edu	37	3	129389253	129389253	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:129389253C>T	ENST00000393238.3	-	4	1771	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	TMCC1_ENST00000426664.2_Silent_p.E363E|TMCC1_ENST00000432054.2_Silent_p.E153E|TMCC1_ENST00000329333.5_Silent_p.E298E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	477						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAAAGGATTCCTCTAGTCTGG	0.453																																																	0													110.0	112.0	111.0					3																	129389253		2203	4300	6503	SO:0001819	synonymous_variant	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1431G>A	3.37:g.129389253C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.E477	ENST00000393238.3	37	c.1431	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2		0.453	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	C	NM_015008		129389253	-1	no_errors	ENST00000393238	ensembl	human	known	70_37	silent	SNP	1.000	T
RNF212	285498	genome.wustl.edu	37	4	1110057	1110057	+	5'Flank	SNP	G	G	C	rs540797672		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:1110057G>C	ENST00000433731.2	-	0	0				RNF212_ENST00000505730.1_5'Flank|RP11-20I20.2_ENST00000504969.1_RNA|RNF212_ENST00000333673.5_5'Flank|SNORA48_ENST00000391156.1_RNA|TMED11P_ENST00000502630.1_RNA|RNF212_ENST00000382968.5_5'Flank			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTGACCCTTTGATAGTTTTGT	0.403																																																	0																																										SO:0001631	upstream_gene_variant	100379220			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997		4.37:g.1110057G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	RNA	SNP	-	NULL	ENST00000433731.2	37	NULL	CCDS46996.1	4																																																																																			TMED11P	-	-		0.403	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMED11P	HGNC	protein_coding	OTTHUMT00000359124.2	G	NM_194439		1110057	-1	no_errors	ENST00000491822	ensembl	human	known	70_37	rna	SNP	1.000	C
TMEM131	23505	genome.wustl.edu	37	2	98412696	98412696	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98412696C>T	ENST00000186436.5	-	28	3413	c.3185G>A	c.(3184-3186)aGa>aAa	p.R1062K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1062						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GATTATATCTCTAGAAGCATT	0.308																																																	0													60.0	53.0	55.0					2																	98412696		1806	4053	5859	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3185G>A	2.37:g.98412696C>T	ENSP00000186436:p.Arg1062Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.R1062K	ENST00000186436.5	37	c.3185	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474608	0.43942	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.28895	1.59	5.93	2.69	0.31865	.	0.136558	0.64402	N	0.000003	T	0.10852	0.0265	N	0.03224	-0.385	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16041	-1.0416	10	0.07813	T	0.8	-11.2577	7.9908	0.30239	0.0:0.2434:0.0:0.7566	.	1062	Q92545	TM131_HUMAN	K	1062;41	ENSP00000186436:R1062K	ENSP00000186436:R1062K	R	-	2	0	TMEM131	97779128	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	2.087000	0.41653	0.284000	0.22305	0.655000	0.94253	AGA	TMEM131	-	NULL		0.308	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98412696	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM145	284339	genome.wustl.edu	37	19	42821049	42821049	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42821049G>A	ENST00000301204.3	+	11	875	c.834G>A	c.(832-834)gtG>gtA	p.V278V	TMEM145_ENST00000598766.1_Silent_p.V302V	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	278					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGGCTCCGTGAAGTTGTCTG	0.672																																																	0													50.0	41.0	44.0					19																	42821049		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.834G>A	19.37:g.42821049G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.V278	ENST00000301204.3	37	c.834	CCDS12603.1	19																																																																																			TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.672	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42821049	+1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM145	284339	genome.wustl.edu	37	19	42821970	42821970	+	Nonsense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42821970C>G	ENST00000301204.3	+	12	1051	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.S361*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	337					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTGCTTGTCTCACTGCGACAC	0.587																																																	0													202.0	159.0	174.0					19																	42821970		2203	4300	6503	SO:0001587	stop_gained	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1010C>G	19.37:g.42821970C>G	ENSP00000301204:p.Ser337*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.S337*	ENST00000301204.3	37	c.1010	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.657142	0.96724	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.55	4.55	0.56014	.	0.596733	0.15806	N	0.243753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-31.1918	15.1796	0.72945	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000301204:S337X	S	+	2	0	TMEM145	47513810	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	6.277000	0.72608	2.258000	0.74832	0.591000	0.81541	TCA	TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.587	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	C	NM_173633		42821970	+1	no_errors	ENST00000301204	ensembl	human	known	70_37	nonsense	SNP	1.000	G
TMEM14A	28978	genome.wustl.edu	37	6	52541933	52541933	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:52541933C>T	ENST00000211314.4	+	2	186	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	11						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					ATGCAGCCCTCGTGACATTTG	0.423																																																	0													162.0	153.0	156.0					6																	52541933		2203	4300	6503	SO:0001819	synonymous_variant	28978			AF239771	CCDS4943.1	6p12.3	2008-02-05			ENSG00000096092	ENSG00000096092			21076	protein-coding gene	gene with protein product							Standard	NM_014051		Approved	PTD011, C6orf73	uc003pax.3	Q9Y6G1	OTTHUMG00000014856	ENST00000211314.4:c.33C>T	6.37:g.52541933C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R552	Silent	SNP	pfam_UPF0136_TM	p.L11	ENST00000211314.4	37	c.33	CCDS4943.1	6																																																																																			TMEM14A	-	pfam_UPF0136_TM		0.423	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14A	HGNC	protein_coding	OTTHUMT00000040916.1	C	NM_014051		52541933	+1	no_errors	ENST00000211314	ensembl	human	known	70_37	silent	SNP	0.218	T
DNAJC14	85406	genome.wustl.edu	37	12	56224610	56224610	+	5'Flank	SNP	C	C	G	rs550674487		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56224610C>G	ENST00000357606.3	-	0	0				DNAJC14_ENST00000317269.3_5'Flank|DNAJC14_ENST00000317287.5_5'Flank|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14						protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						cgcgcgcacgcgcgcgcgcac	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		11876	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001631	upstream_gene_variant	440104			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3			12.37:g.56224610C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	RNA	SNP	-	NULL	ENST00000357606.3	37	NULL	CCDS8894.1	12																																																																																			TMEM198B	-	-		0.612	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM198B	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56224610	+1	no_errors	ENST00000478241	ensembl	human	known	70_37	rna	SNP	0.006	G
TMEM225	338661	genome.wustl.edu	37	11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:123756083G>A	ENST00000375026.2	-	1	266	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	17					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCCCAGGAGGAGAAAAGTAT	0.408																																																	0													101.0	93.0	95.0					11																	123756083		2202	4299	6501	SO:0001583	missense	338661			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.50C>T	11.37:g.123756083G>A	ENSP00000364166:p.Ser17Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S17F	ENST00000375026.2	37	c.50	CCDS31697.1	11	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644468	0.67244	.	.	ENSG00000204300	ENST00000375026	T	0.43688	0.94	4.87	4.87	0.63330	.	0.141532	0.33477	N	0.004863	T	0.52500	0.1738	L	0.32530	0.975	0.33406	D	0.577974	D	0.89917	1.0	D	0.76575	0.988	T	0.63611	-0.6598	10	0.87932	D	0	-19.4395	13.6897	0.62537	0.0:0.0:1.0:0.0	.	17	Q6GV28	TM225_HUMAN	F	17	ENSP00000364166:S17F	ENSP00000364166:S17F	S	-	2	0	TMEM225	123261293	1.000000	0.71417	0.465000	0.27155	0.024000	0.10985	3.697000	0.54764	2.686000	0.91538	0.655000	0.94253	TCC	TMEM225	-	NULL		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1	G	NM_001013743		123756083	-1	no_errors	ENST00000375026	ensembl	human	known	70_37	missense	SNP	0.651	A
TMEM246	84302	genome.wustl.edu	37	9	104238223	104238223	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:104238223G>A	ENST00000374851.1	-	4	2299	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	384						integral component of membrane (GO:0016021)											TGTGTTTCACGAGGTTCGGCT	0.542																																																	0													100.0	95.0	97.0					9																	104238223		2203	4300	6503	SO:0001819	synonymous_variant	84302			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1152C>T	9.37:g.104238223G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AQ4	Silent	SNP	NULL	p.L384	ENST00000374851.1	37	c.1152	CCDS6757.1	9																																																																																			TMEM246	-	NULL		0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	G	NM_032342		104238223	-1	no_errors	ENST00000374847	ensembl	human	known	70_37	silent	SNP	0.322	A
SCTR	6344	genome.wustl.edu	37	2	120194804	120194804	+	IGR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:120194804C>G	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Missense_Mutation_p.Q133E|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.Q121E	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CAAACACTCACAGTGCAAGTG	0.602																																																	0													153.0	145.0	148.0					2																	120194804		2203	4300	6503	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194804C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q12961|Q13213|Q53T00	Missense_Mutation	SNP	NULL	p.Q121E	ENST00000019103.5	37	c.361	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	C	3.511	-0.099826	0.07010	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.83	0.648	0.17801	.	0.470065	0.19972	N	0.101970	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14811	-1.0459	9	0.54805	T	0.06	-16.4289	5.6321	0.17516	0.3628:0.4719:0.0:0.1653	.	121	Q8WXS4	CCGL_HUMAN	E	133;121	.	ENSP00000303148:Q121E	Q	+	1	0	TMEM37	119911274	0.146000	0.22672	0.218000	0.23776	0.021000	0.10359	0.628000	0.24522	0.223000	0.20920	-0.314000	0.08810	CAG	TMEM37	-	NULL		0.602	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM37	HGNC	protein_coding	OTTHUMT00000254198.2	C			120194804	+1	no_errors	ENST00000306406	ensembl	human	known	70_37	missense	SNP	0.012	G
TMEM40	55287	genome.wustl.edu	37	3	12776201	12776201	+	3'UTR	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:12776201G>T	ENST00000314124.7	-	0	1130				TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435218.2_3'UTR|TMEM40_ENST00000435575.1_3'UTR	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						ATGCTGCTCTGCCCTTGTGGG	0.592																																																	0													32.0	37.0	35.0					3																	12776201		692	1591	2283	SO:0001624	3_prime_UTR_variant	55287			BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.*72C>A	3.37:g.12776201G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JID5|Q8NAL4|Q9NUZ4	RNA	SNP	-	NULL	ENST00000314124.7	37	NULL	CCDS2613.1	3																																																																																			TMEM40	-	-		0.592	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM40	HGNC	protein_coding	OTTHUMT00000252029.2	G	NM_018306		12776201	-1	no_errors	ENST00000476331	ensembl	human	known	70_37	rna	SNP	0.001	T
TMEM43	79188	genome.wustl.edu	37	3	14172355	14172355	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:14172355G>A	ENST00000306077.4	+	3	450	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	66					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTCATTGGCTGAGGGGCTCTC	0.582																																																	0													92.0	81.0	85.0					3																	14172355		2203	4300	6503	SO:0001583	missense	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.196G>A	3.37:g.14172355G>A	ENSP00000303992:p.Glu66Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	pfam_TMEM43_fam	p.E66K	ENST00000306077.4	37	c.196	CCDS2618.1	3	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808818	0.70797	.	.	ENSG00000170876	ENST00000306077	T	0.41758	0.99	5.17	5.17	0.71159	.	0.052605	0.64402	N	0.000001	T	0.62258	0.2413	M	0.87758	2.905	0.80722	D	1	D	0.63880	0.993	P	0.52672	0.706	T	0.69312	-0.5178	10	0.49607	T	0.09	-32.1559	17.4571	0.87610	0.0:0.0:1.0:0.0	.	66	Q9BTV4	TMM43_HUMAN	K	66	ENSP00000303992:E66K	ENSP00000303992:E66K	E	+	1	0	TMEM43	14147356	1.000000	0.71417	0.939000	0.37840	0.224000	0.24922	7.215000	0.77966	2.406000	0.81754	0.591000	0.81541	GAG	TMEM43	-	NULL		0.582	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2	G	NM_024334		14172355	+1	no_errors	ENST00000306077	ensembl	human	known	70_37	missense	SNP	0.996	A
TMEM39A	55254	genome.wustl.edu	37	3	119150996	119150996	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:119150996G>A	ENST00000319172.5	-	9	1719	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	433						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGAGCTGATAGAAGACGACAC	0.393																																																	0													73.0	68.0	70.0					3																	119150996		2203	4300	6503	SO:0001819	synonymous_variant	55254			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1299C>T	3.37:g.119150996G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	pfam_Uncharacterised_TMEM39	p.F433	ENST00000319172.5	37	c.1299	CCDS2987.1	3																																																																																			TMEM39A	-	pfam_Uncharacterised_TMEM39		0.393	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3	G	NM_018266		119150996	-1	no_errors	ENST00000319172	ensembl	human	known	70_37	silent	SNP	1.000	A
NDC1	55706	genome.wustl.edu	37	1	54262395	54262395	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:54262395C>G	ENST00000371429.3	-	13	2149	c.1551G>C	c.(1549-1551)gtG>gtC	p.V517V	NDC1_ENST00000537333.1_Silent_p.V182V|NDC1_ENST00000234725.8_Silent_p.V402V|NDC1_ENST00000540001.1_Intron	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	517					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ATGAATAAATCACACTGGGTT	0.328																																																	0													110.0	103.0	105.0					1																	54262395		2203	4300	6503	SO:0001819	synonymous_variant	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1551G>C	1.37:g.54262395C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.V517	ENST00000371429.3	37	c.1551	CCDS583.1	1																																																																																			TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.328	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	C	NM_018087		54262395	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	silent	SNP	0.000	G
NDC1	55706	genome.wustl.edu	37	1	54262801	54262801	+	Silent	SNP	C	C	T	rs372529905		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:54262801C>T	ENST00000371429.3	-	12	1837	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	NDC1_ENST00000537333.1_Silent_p.Q78Q|NDC1_ENST00000234725.8_Silent_p.Q298Q|NDC1_ENST00000540001.1_Silent_p.Q413Q	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	413					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ATTTTGGTGTCTGAAAAGCAG	0.428																																																	0													69.0	72.0	71.0					1																	54262801		2203	4300	6503	SO:0001819	synonymous_variant	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1239G>A	1.37:g.54262801C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.Q413	ENST00000371429.3	37	c.1239	CCDS583.1	1																																																																																			TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.428	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	C	NM_018087		54262801	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	silent	SNP	0.698	T
NDC1	55706	genome.wustl.edu	37	1	54269617	54269617	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:54269617G>C	ENST00000371429.3	-	10	1648	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	NDC1_ENST00000537333.1_Missense_Mutation_p.F15L|NDC1_ENST00000234725.8_Missense_Mutation_p.F235L|NDC1_ENST00000540001.1_Missense_Mutation_p.F350L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	350					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										GGCTGAGGCTGAAAACTTCTT	0.393																																																	0													182.0	185.0	184.0					1																	54269617		2203	4300	6503	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1050C>G	1.37:g.54269617G>C	ENSP00000360483:p.Phe350Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.F350L	ENST00000371429.3	37	c.1050	CCDS583.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940973	0.73557	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000537333;ENST00000234725	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.64	0.661	0.17874	.	0.087690	0.85682	D	0.000000	T	0.73853	0.3640	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.72616	-0.4239	10	0.59425	D	0.04	.	11.3964	0.49845	0.5071:0.0:0.4929:0.0	.	310;350	B4DHA3;Q9BTX1	.;NDC1_HUMAN	L	350;350;350;15;235	ENSP00000360483:F350L;ENSP00000440873:F350L;ENSP00000439947:F15L;ENSP00000234725:F235L	ENSP00000234725:F235L	F	-	3	2	TMEM48	54042205	0.987000	0.35691	0.997000	0.53966	0.990000	0.78478	0.163000	0.16520	-0.099000	0.12263	-0.369000	0.07265	TTC	TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.393	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	G	NM_018087		54269617	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	missense	SNP	0.991	C
TMEM63A	9725	genome.wustl.edu	37	1	226041492	226041492	+	Splice_Site	SNP	C	C	A	rs548225364	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:226041492C>A	ENST00000366835.3	-	19	1905	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	545					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAAGACGCACCTGGGGAAAC	0.637																																																	0													32.0	26.0	28.0					1																	226041492		2202	4300	6502	SO:0001630	splice_region_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1635-1G>T	1.37:g.226041492C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.E545D	ENST00000366835.3	37	c.1635	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253971	0.59212	.	.	ENSG00000196187	ENST00000366835	T	0.30714	1.52	5.45	5.45	0.79879	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.76574	2.34	0.80722	D	1	D	0.54207	0.965	P	0.61722	0.893	T	0.37596	-0.9699	10	0.21014	T	0.42	.	9.5904	0.39543	0.0:0.8386:0.0:0.1614	.	545	O94886	TM63A_HUMAN	D	545	ENSP00000355800:E545D	ENSP00000355800:E545D	E	-	3	2	TMEM63A	224108115	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.282000	0.33226	2.562000	0.86427	0.563000	0.77884	GAG	TMEM63A	-	pfam_DUF221		0.637	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	C	NM_014698	Missense_Mutation	226041492	-1	no_errors	ENST00000366835	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM74B	55321	genome.wustl.edu	37	20	1161978	1161978	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:1161978G>A	ENST00000381894.3	-	2	956	c.285C>T	c.(283-285)ccC>ccT	p.P95P	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	95						integral component of membrane (GO:0016021)											GCTGGGATCGGGGCAGTGAGG	0.622																																																	0													49.0	58.0	54.0					20																	1161978		2202	4300	6502	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.285C>T	20.37:g.1161978G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVW5	Silent	SNP	NULL	p.P95	ENST00000381894.3	37	c.285	CCDS13011.1	20																																																																																			TMEM74B	-	NULL		0.622	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	G	NM_018354		1161978	-1	no_errors	ENST00000381894	ensembl	human	known	70_37	silent	SNP	0.851	A
TMEM9B	56674	genome.wustl.edu	37	11	8969995	8969995	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:8969995C>T	ENST00000534025.1	-	5	928	c.469G>A	c.(469-471)Gat>Aat	p.D157N	TMEM9B_ENST00000309134.5_Missense_Mutation_p.D83N|TMEM9B_ENST00000525069.1_Missense_Mutation_p.D83N	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	157					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GCTAGCACATCGTGTGCATTT	0.498																																																	0													91.0	83.0	85.0					11																	8969995		2201	4296	6497	SO:0001583	missense	56674			AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 15"""	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.469G>A	11.37:g.8969995C>T	ENSP00000433361:p.Asp157Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z649	Missense_Mutation	SNP	pfam_TMEM9	p.D157N	ENST00000534025.1	37	c.469	CCDS7796.1	11	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890906	0.52014	.	.	ENSG00000175348	ENST00000309134;ENST00000534025;ENST00000525069	.	.	.	5.86	5.86	0.93980	.	0.053464	0.85682	D	0.000000	T	0.40171	0.1106	N	0.11255	0.115	0.80722	D	1	B	0.21452	0.056	B	0.17979	0.02	T	0.24404	-1.0161	9	0.17832	T	0.49	.	18.3607	0.90374	0.0:1.0:0.0:0.0	.	157	Q9NQ34	TMM9B_HUMAN	N	83;157;83	.	ENSP00000311842:D83N	D	-	1	0	TMEM9B	8926571	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	5.324000	0.65863	2.777000	0.95525	0.655000	0.94253	GAT	TMEM9B	-	pfam_TMEM9		0.498	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM9B	HGNC	protein_coding	OTTHUMT00000385722.1	C			8969995	-1	no_errors	ENST00000534025	ensembl	human	known	70_37	missense	SNP	0.998	T
TMUB2	79089	genome.wustl.edu	37	17	42266673	42266673	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42266673G>A	ENST00000587989.1	+	3	472	c.319G>A	c.(319-321)Gat>Aat	p.D107N	TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.D107N|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.D87N|TMUB2_ENST00000589856.1_Missense_Mutation_p.D87N|TMUB2_ENST00000589785.1_Missense_Mutation_p.D87N|TMUB2_ENST00000319511.6_Missense_Mutation_p.D87N|TMUB2_ENST00000587172.1_Intron|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000446571.3_Intron|ASB16-AS1_ENST00000588785.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	107						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGAGGGTAATGATGAGAAGGC	0.617																																																	0													65.0	69.0	68.0					17																	42266673		2203	4300	6503	SO:0001583	missense	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.319G>A	17.37:g.42266673G>A	ENSP00000466971:p.Asp107Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.D107N	ENST00000587989.1	37	c.319	CCDS54134.1	17	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337145	0.60963	.	.	ENSG00000168591	ENST00000357984;ENST00000538716;ENST00000319511	T;T;T	0.43294	0.96;0.95;0.96	5.21	5.21	0.72293	.	0.173559	0.49916	D	0.000123	T	0.37598	0.1009	L	0.36672	1.1	0.43798	D	0.996347	P;P	0.38922	0.589;0.651	B;B	0.39027	0.288;0.15	T	0.12837	-1.0532	10	0.32370	T	0.25	.	17.5194	0.87783	0.0:0.0:1.0:0.0	.	87;107	Q71RG4-3;Q71RG4	.;TMUB2_HUMAN	N	87;107;87	ENSP00000350672:D87N;ENSP00000444565:D107N;ENSP00000313214:D87N	ENSP00000313214:D87N	D	+	1	0	TMUB2	39622199	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.549000	0.82163	2.404000	0.81709	0.561000	0.74099	GAT	TMUB2	-	NULL		0.617	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMUB2	HGNC	protein_coding	OTTHUMT00000457711.1	G	NM_177441		42266673	+1	no_errors	ENST00000538716	ensembl	human	known	70_37	missense	SNP	1.000	A
TNFRSF10D	8793	genome.wustl.edu	37	8	23004583	23004583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:23004583G>A	ENST00000312584.3	-	4	467	c.373C>T	c.(373-375)Caa>Taa	p.Q125*		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	125					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTATTTGTTTGACCTGACAAC	0.493																																																	0													132.0	124.0	127.0					8																	23004583		2203	4300	6503	SO:0001587	stop_gained	8793			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.373C>T	8.37:g.23004583G>A	ENSP00000310263:p.Gln125*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8W0|Q9Y6Q4	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.Q125*	ENST00000312584.3	37	c.373	CCDS6038.1	8	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607927	0.28623	.	.	ENSG00000173530	ENST00000312584	.	.	.	1.93	-2.91	0.05631	.	0.345816	0.26788	U	0.022491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	1.5761	0.02624	0.1933:0.2565:0.4008:0.1493	.	.	.	.	X	125	.	ENSP00000310263:Q125X	Q	-	1	0	TNFRSF10D	23060528	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.854000	0.04299	-0.867000	0.04063	-1.801000	0.00618	CAA	TNFRSF10D	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.493	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	HGNC	protein_coding	OTTHUMT00000215135.1	G			23004583	-1	no_errors	ENST00000312584	ensembl	human	known	70_37	nonsense	SNP	0.000	A
TNFRSF8	943	genome.wustl.edu	37	1	12169642	12169642	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:12169642G>A	ENST00000263932.2	+	5	663	c.441G>A	c.(439-441)acG>acA	p.T147T	TNFRSF8_ENST00000417814.2_Silent_p.T36T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	147					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGAAGAACACGGTCTGTGAGC	0.617																																																	0													47.0	49.0	48.0					1																	12169642		2203	4300	6503	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.441G>A	1.37:g.12169642G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.T147	ENST00000263932.2	37	c.441	CCDS144.1	1																																																																																			TNFRSF8	-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12169642	+1	no_errors	ENST00000263932	ensembl	human	known	70_37	silent	SNP	0.000	A
TNFSF10	8743	genome.wustl.edu	37	3	172224398	172224398	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:172224398G>T	ENST00000241261.2	-	5	852	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	244					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATTCCCCCTTGATAGATGGAA	0.358																																																	0													152.0	148.0	149.0					3																	172224398		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.730C>A	3.37:g.172224398G>T	ENSP00000241261:p.Gln244Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1Y9B3	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.Q244K	ENST00000241261.2	37	c.730	CCDS3219.1	3	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213744	0.58452	.	.	ENSG00000121858	ENST00000241261	D	0.95035	-3.59	5.68	5.68	0.88126	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97606	1.0126	10	0.59425	D	0.04	-19.2445	20.14	0.98056	0.0:0.0:1.0:0.0	.	244	P50591	TNF10_HUMAN	K	244	ENSP00000241261:Q244K	ENSP00000241261:Q244K	Q	-	1	0	TNFSF10	173707092	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	8.208000	0.89748	2.837000	0.97791	0.591000	0.81541	CAA	TNFSF10	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	HGNC	protein_coding	OTTHUMT00000346601.1	G			172224398	-1	no_errors	ENST00000241261	ensembl	human	known	70_37	missense	SNP	1.000	T
TNFSF13B	10673	genome.wustl.edu	37	13	108922315	108922315	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:108922315G>A	ENST00000375887.4	+	1	250	c.72G>A	c.(70-72)ctG>ctA	p.L24L	TNFSF13B_ENST00000430559.1_Silent_p.L24L|TNFSF13B_ENST00000542136.1_Silent_p.L24L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	24					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AAATGAAACTGAAGGAGTGTG	0.502																																																	0													117.0	122.0	120.0					13																	108922315		2203	4300	6503	SO:0001819	synonymous_variant	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.72G>A	13.37:g.108922315G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.L24	ENST00000375887.4	37	c.72	CCDS9509.1	13																																																																																			TNFSF13B	-	NULL		0.502	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	G			108922315	+1	no_errors	ENST00000375887	ensembl	human	known	70_37	silent	SNP	0.038	A
TNK1	8711	genome.wustl.edu	37	17	7287072	7287072	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7287072G>A	ENST00000576812.1	+	5	840	c.471G>A	c.(469-471)ccG>ccA	p.P157P	TNK1_ENST00000311668.2_Silent_p.P157P|TNK1_ENST00000570896.1_Silent_p.P157P	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCGAAGGCCCGATGGGCACAG	0.627																																																	0													30.0	37.0	34.0					17																	7287072		2033	4170	6203	SO:0001819	synonymous_variant	8711			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.471G>A	17.37:g.7287072G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P157	ENST00000576812.1	37	c.471	CCDS58510.1	17																																																																																			TNK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	HGNC	protein_coding	OTTHUMT00000440832.2	G	NM_003985		7287072	+1	no_errors	ENST00000576812	ensembl	human	known	70_37	silent	SNP	0.001	A
TNNT3	7140	genome.wustl.edu	37	11	1956267	1956267	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1956267G>C	ENST00000397301.1	+	15	722				TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)						ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCTGGACCCTGAGAGGCCCAA	0.682																																																	0																																										SO:0001627	intron_variant	7140			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.714+118G>C	11.37:g.1956267G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	RNA	SNP	-	NULL	ENST00000397301.1	37	NULL		11																																																																																			TNNT3	-	-		0.682	TNNT3-010	KNOWN	basic	protein_coding	TNNT3	HGNC	protein_coding	OTTHUMT00000142920.3	G	NM_006757		1956267	+1	no_errors	ENST00000493234	ensembl	human	known	70_37	rna	SNP	0.000	C
TNRC18	84629	genome.wustl.edu	37	7	5430072	5430072	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:5430072C>G	ENST00000430969.1	-	4	836				TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000399434.2_Silent_p.L103L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGAAGCCTCTCAGAAGGCCCC	0.557																																																	0													11.0	13.0	12.0					7																	5430072		1794	4037	5831	SO:0001627	intron_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.487+43G>C	7.37:g.5430072C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX41|Q96JH1|Q96K91	Silent	SNP	NULL	p.L103	ENST00000430969.1	37	c.309	CCDS47534.1	7																																																																																			TNRC18	-	NULL		0.557	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5430072	-1	no_errors	ENST00000399434	ensembl	human	putative	70_37	silent	SNP	0.000	G
TNS1	7145	genome.wustl.edu	37	2	218713588	218713588	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:218713588G>C	ENST00000171887.4	-	17	1729	c.1277C>G	c.(1276-1278)tCc>tGc	p.S426C	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.S426C|TNS1_ENST00000419504.1_Missense_Mutation_p.S426C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	426					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGTGGCACTGGAGGCCCCGGG	0.632																																																	0													67.0	71.0	69.0					2																	218713588		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1277C>G	2.37:g.218713588G>C	ENSP00000171887:p.Ser426Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S426C	ENST00000171887.4	37	c.1277	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	3.915	-0.019384	0.07634	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94376	-2.89;-2.89;-2.9;-3.41	4.92	3.07	0.35406	.	0.805739	0.11557	N	0.552161	D	0.90724	0.7089	L	0.42245	1.32	0.33772	D	0.623202	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001	D	0.87778	0.2610	10	0.59425	D	0.04	.	15.0245	0.71659	0.0:0.2701:0.7299:0.0	.	426;480;426;426;426	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	C	426;426;426;551	ENSP00000171887:S426C;ENSP00000408724:S426C;ENSP00000406016:S426C;ENSP00000405460:S551C	ENSP00000171887:S426C	S	-	2	0	TNS1	218421833	0.431000	0.25546	0.007000	0.13788	0.045000	0.14185	4.037000	0.57311	0.631000	0.30412	-0.150000	0.13652	TCC	TNS1	-	NULL		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218713588	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	0.081	C
TNS1	7145	genome.wustl.edu	37	2	218758228	218758228	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:218758228G>A	ENST00000171887.4	-	8	728	c.276C>T	c.(274-276)agC>agT	p.S92S	TNS1_ENST00000430930.1_Silent_p.S92S|TNS1_ENST00000419504.1_Silent_p.S92S|TNS1_ENST00000310858.6_Silent_p.S123S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTACAGATGCTGCAGATCT	0.552																																																	0													146.0	125.0	132.0					2																	218758228		2203	4300	6503	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.276C>T	2.37:g.218758228G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG71|Q6IPI5	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S92	ENST00000171887.4	37	c.276	CCDS2407.1	2																																																																																			TNS1	-	smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ		0.552	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218758228	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	silent	SNP	0.992	A
TOMM34	10953	genome.wustl.edu	37	20	43580609	43580609	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:43580609C>G	ENST00000372813.3	-	4	567	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	139					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGGCGCCACTCAGGCCCAAGC	0.517																																																	0													83.0	73.0	76.0					20																	43580609		2203	4300	6503	SO:0001583	missense	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.415G>C	20.37:g.43580609C>G	ENSP00000361900:p.Glu139Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E139Q	ENST00000372813.3	37	c.415	CCDS13340.1	20	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558891	0.27827	.	.	ENSG00000025772	ENST00000372813	T	0.78126	-1.15	5.28	2.26	0.28386	.	0.394009	0.29225	N	0.012766	T	0.63414	0.2509	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.48433	-0.9036	10	0.28530	T	0.3	-11.1172	6.8306	0.23907	0.0:0.4162:0.4276:0.1562	.	139	Q15785	TOM34_HUMAN	Q	139	ENSP00000361900:E139Q	ENSP00000361900:E139Q	E	-	1	0	TOMM34	43014023	0.001000	0.12720	0.791000	0.31998	0.991000	0.79684	0.257000	0.18369	0.366000	0.24427	0.650000	0.86243	GAG	TOMM34	-	NULL		0.517	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	C	NM_006809		43580609	-1	no_errors	ENST00000372813	ensembl	human	known	70_37	missense	SNP	0.084	G
TOMM40L	84134	genome.wustl.edu	37	1	161198297	161198297	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:161198297G>A	ENST00000367988.3	+	8	953				NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000367987.1_Intron|TOMM40L_ENST00000545897.1_Intron|MIR5187_ENST00000583479.1_RNA	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGAACAGGTGAGACCTCTGA	0.483																																																	0													70.0	56.0	61.0					1																	161198297		2203	4300	6503	SO:0001627	intron_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.684+3G>A	1.37:g.161198297G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-		0.483	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	G	NM_032174		161198297	+1	no_errors	ENST00000475793	ensembl	human	known	70_37	rna	SNP	1.000	A
TOMM40L	84134	genome.wustl.edu	37	1	161198547	161198547	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:161198547G>C	ENST00000367988.3	+	9	996	c.727G>C	c.(727-729)Gac>Cac	p.D243H	NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D243H|TOMM40L_ENST00000545897.1_Missense_Mutation_p.D209H|MIR5187_ENST00000583479.1_RNA	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	243					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCTACAAGACACAACATT	0.488																																																	0													127.0	107.0	114.0					1																	161198547		2203	4300	6503	SO:0001583	missense	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.727G>C	1.37:g.161198547G>C	ENSP00000356967:p.Asp243His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4U0|D3DVG9	Missense_Mutation	SNP	pfam_Porin_Euk	p.D243H	ENST00000367988.3	37	c.727	CCDS1227.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518918	0.85495	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.45668	0.89;0.89;0.89	5.63	5.63	0.86233	.	0.048391	0.85682	D	0.000000	T	0.50188	0.1601	L	0.46819	1.47	0.34113	D	0.663242	P;D;P	0.64830	0.953;0.994;0.953	D;D;D	0.64687	0.928;0.928;0.928	T	0.50742	-0.8792	9	0.87932	D	0	-20.6598	17.5205	0.87786	0.0:0.0:1.0:0.0	.	209;125;243	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	243;209;145;243	ENSP00000356967:D243H;ENSP00000443233:D209H;ENSP00000356966:D243H	ENSP00000356966:D243H	D	+	1	0	TOMM40L	159465171	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.334000	0.96470	2.802000	0.96397	0.561000	0.74099	GAC	TOMM40L	-	pfam_Porin_Euk		0.488	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	G	NM_032174		161198547	+1	no_errors	ENST00000367987	ensembl	human	known	70_37	missense	SNP	1.000	C
TOPORS	10210	genome.wustl.edu	37	9	32542367	32542367	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:32542367G>A	ENST00000360538.2	-	3	2272	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S654F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	719	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|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)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCTCCTGTAAGATGATTCGTA	0.363																																																	0													194.0	204.0	200.0					9																	32542367		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2156C>T	9.37:g.32542367G>A	ENSP00000353735:p.Ser719Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S719F	ENST00000360538.2	37	c.2156	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583038	0.46006	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17370	2.28;2.28	5.96	5.96	0.96718	.	0.000000	0.48767	D	0.000167	T	0.32102	0.0818	L	0.27053	0.805	0.38123	D	0.937931	D	0.89917	1.0	D	0.73708	0.981	T	0.07102	-1.0790	10	0.87932	D	0	-11.2236	19.1907	0.93664	0.0:0.0:1.0:0.0	.	719	Q9NS56	TOPRS_HUMAN	F	719;654	ENSP00000353735:S719F;ENSP00000369187:S654F	ENSP00000353735:S719F	S	-	2	0	TOPORS	32532367	0.977000	0.34250	1.000000	0.80357	0.987000	0.75469	2.988000	0.49386	2.831000	0.97527	0.650000	0.86243	TCT	TOPORS	-	NULL		0.363	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	G	NM_005802		32542367	-1	no_errors	ENST00000360538	ensembl	human	known	70_37	missense	SNP	0.992	A
TOR4A	54863	genome.wustl.edu	37	9	140173556	140173556	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:140173556G>A	ENST00000357503.2	+	2	611	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	139					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										CAACGCTATCGAGAACCTGGA	0.657																																																	0													20.0	16.0	18.0					9																	140173556		2198	4297	6495	SO:0001583	missense	54863			AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.415G>A	9.37:g.140173556G>A	ENSP00000350102:p.Glu139Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BFA4	Missense_Mutation	SNP	pfam_Torsin,smart_AAA+_ATPase	p.E139K	ENST00000357503.2	37	c.415	CCDS7041.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.508241	0.96386	.	.	ENSG00000198113	ENST00000357503	T	0.67171	-0.25	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84352	0.0533	10	0.87932	D	0	-16.0929	15.9612	0.79930	0.0:0.0:1.0:0.0	.	139	Q9NXH8	CI167_HUMAN	K	139	ENSP00000350102:E139K	ENSP00000350102:E139K	E	+	1	0	C9orf167	139293377	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.086000	0.71352	2.097000	0.63578	0.561000	0.74099	GAG	TOR4A	-	NULL		0.657	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	HGNC	protein_coding	OTTHUMT00000254711.1	G	NM_017723		140173556	+1	no_errors	ENST00000357503	ensembl	human	known	70_37	missense	SNP	1.000	A
TP53BP1	7158	genome.wustl.edu	37	15	43762075	43762075	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:43762075G>C	ENST00000263801.3	-	11	1607	c.1355C>G	c.(1354-1356)tCc>tGc	p.S452C	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S457C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S457C|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S457C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	452					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAGGCTGGGATGGGATAGG	0.428								Other conserved DNA damage response genes																																									0													134.0	124.0	127.0					15																	43762075		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1355C>G	15.37:g.43762075G>C	ENSP00000263801:p.Ser452Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S457C	ENST00000263801.3	37	c.1370	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700797	0.68501	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.26373	2.72;2.72;2.63;2.71;1.74	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.53318	0.1789	M	0.77103	2.36	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.993;0.997;0.997	T	0.56655	-0.7943	10	0.72032	D	0.01	-8.7454	16.0175	0.80455	0.0:0.0:1.0:0.0	.	457;452;457;457	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	C	452;457;457;457;457	ENSP00000263801:S452C;ENSP00000371475:S457C;ENSP00000371470:S457C;ENSP00000393497:S457C;ENSP00000388028:S457C	ENSP00000263801:S452C	S	-	2	0	TP53BP1	41549367	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.349000	0.66010	2.557000	0.86248	0.467000	0.42956	TCC	TP53BP1	-	NULL		0.428	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	G			43762075	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	C
TPO	7173	genome.wustl.edu	37	2	1497747	1497747	+	Missense_Mutation	SNP	C	C	G	rs369139497		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:1497747C>G	ENST00000345913.4	+	11	2033	c.1942C>G	c.(1942-1944)Cgg>Ggg	p.R648G	TPO_ENST00000329066.4_Missense_Mutation_p.R648G|TPO_ENST00000382201.3_Missense_Mutation_p.R591G|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.R475G|TPO_ENST00000337415.3_Missense_Mutation_p.R648G|TPO_ENST00000349624.3_Missense_Mutation_p.R475G|TPO_ENST00000346956.3_Missense_Mutation_p.R648G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	648			R -> Q (in TDH2A). {ECO:0000269|PubMed:10084596}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCCAGGGCTCGGACAGGGCC	0.567																																																	0													77.0	77.0	77.0					2																	1497747		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1942C>G	2.37:g.1497747C>G	ENSP00000318820:p.Arg648Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R648G	ENST00000345913.4	37	c.1942	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789002	0.31685	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.84	2.67	0.31697	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.86641	0.1892	10	0.87932	D	0	-36.4063	11.3934	0.49827	0.6097:0.3903:0.0:0.0	.	648;475;591;648	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	G	648;648;648;475;648;591;475;577;122	ENSP00000337263:R648G;ENSP00000318820:R648G;ENSP00000263886:R648G;ENSP00000332044:R475G;ENSP00000329869:R648G;ENSP00000371636:R591G;ENSP00000371633:R475G;ENSP00000405788:R577G;ENSP00000419461:R122G	ENSP00000329869:R648G	R	+	1	2	TPO	1476754	0.812000	0.29077	0.212000	0.23672	0.066000	0.16364	1.631000	0.37092	1.149000	0.42402	0.561000	0.74099	CGG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.567	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1497747	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.913	G
TPP2	7174	genome.wustl.edu	37	13	103282469	103282469	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:103282469G>A	ENST00000376065.4	+	10	1204	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	TPP2_ENST00000376052.3_Missense_Mutation_p.D390N	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	390	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTTCTCCTGATATGATGGT	0.413																																																	0													151.0	134.0	140.0					13																	103282469		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1168G>A	13.37:g.103282469G>A	ENSP00000365233:p.Asp390Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.D390N	ENST00000376065.4	37	c.1168	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859306	0.91433	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88741	-2.42;-2.42	5.79	5.79	0.91817	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.88213	0.6376	L	0.43646	1.37	0.80722	D	1	P	0.43701	0.815	B	0.43413	0.419	D	0.88555	0.3119	10	0.59425	D	0.04	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	390	P29144	TPP2_HUMAN	N	390	ENSP00000365233:D390N;ENSP00000365220:D390N	ENSP00000365220:D390N	D	+	1	0	TPP2	102080470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.186000	0.94906	2.753000	0.94483	0.557000	0.71058	GAT	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.413	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	G			103282469	+1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	1.000	A
TPR	7175	genome.wustl.edu	37	1	186286656	186286656	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:186286656G>C	ENST00000367478.4	-	49	7194	c.6898C>G	c.(6898-6900)Ctc>Gtc	p.L2300V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2300					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTGGAGGGGAGATCTGACTCA	0.433			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													92.0	94.0	93.0					1																	186286656		1909	4122	6031	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6898C>G	1.37:g.186286656G>C	ENSP00000356448:p.Leu2300Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L2300V	ENST00000367478.4	37	c.6898	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294953	0.81025	.	.	ENSG00000047410	ENST00000367478	T	0.24538	1.85	5.75	4.83	0.62350	.	0.066255	0.64402	D	0.000009	T	0.25232	0.0613	L	0.55103	1.725	0.48341	D	0.999631	P	0.38767	0.646	B	0.33121	0.158	T	0.08576	-1.0715	10	0.66056	D	0.02	.	15.1843	0.72986	0.0685:0.0:0.9315:0.0	.	2300	P12270	TPR_HUMAN	V	2300	ENSP00000356448:L2300V	ENSP00000356448:L2300V	L	-	1	0	TPR	184553279	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.325000	0.65869	2.716000	0.92895	0.655000	0.94253	CTC	TPR	-	NULL		0.433	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186286656	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	C
TPST2	8459	genome.wustl.edu	37	22	26937206	26937206	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:26937206C>T	ENST00000338754.4	-	3	661	c.391G>A	c.(391-393)Gag>Aag	p.E131K	TPST2_ENST00000403880.1_Missense_Mutation_p.E131K|TPST2_ENST00000398110.2_Missense_Mutation_p.E131K	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	131					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						TCCAGCACCTCATCCGTCACC	0.657																																																	0													38.0	30.0	33.0					22																	26937206		2202	4300	6502	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.391G>A	22.37:g.26937206C>T	ENSP00000339813:p.Glu131Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E131K	ENST00000338754.4	37	c.391	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721262	0.30503	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495	.	.	.	5.33	4.25	0.50352	Sulfotransferase domain (1);	0.237208	0.36665	N	0.002478	T	0.54046	0.1834	L	0.48362	1.52	0.58432	D	0.999995	B	0.12630	0.006	B	0.16289	0.015	T	0.53236	-0.8467	9	0.41790	T	0.15	-39.2613	12.5371	0.56147	0.0:0.6699:0.3301:0.0	.	131	O60704	TPST2_HUMAN	K	131;131;131;64;131	.	ENSP00000339813:E131K	E	-	1	0	TPST2	25267206	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	1.764000	0.38471	2.501000	0.84356	0.609000	0.83330	GAG	TPST2	-	pfam_Sulfotransferase_dom		0.657	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	C	NM_003595		26937206	-1	no_errors	ENST00000338754	ensembl	human	known	70_37	missense	SNP	1.000	T
TRABD2A	129293	genome.wustl.edu	37	2	85069129	85069129	+	Silent	SNP	G	G	A	rs78920191		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:85069129G>A	ENST00000409520.2	-	3	714	c.672C>T	c.(670-672)gtC>gtT	p.V224V	TRABD2A_ENST00000409133.1_Silent_p.V224V|TRABD2A_ENST00000335459.5_Intron	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	224					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										AAGCAAAGATGACCTAAAAGA	0.453																																																	0																																										SO:0001819	synonymous_variant	129293			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.672C>T	2.37:g.85069129G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKK8|I6UMB9	Silent	SNP	NULL	p.V224	ENST00000409520.2	37	c.672		2																																																																																			TRABD2A	-	NULL		0.453	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		G	NM_001080824		85069129	-1	no_errors	ENST00000409520	ensembl	human	known	70_37	silent	SNP	0.951	A
TRAF3IP2	10758	genome.wustl.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:111912597G>C	ENST00000340026.6	-	3	1314	c.720C>G	c.(718-720)ctC>ctG	p.L240L	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000368761.5_Silent_p.L231L|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572																																																	0													72.0	75.0	74.0					6																	111912597		2203	4300	6503	SO:0001819	synonymous_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.720C>G	6.37:g.111912597G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	pfam_SEFIR	p.L240	ENST00000340026.6	37	c.720		6																																																																																			TRAF3IP2	-	NULL		0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	G			111912597	-1	no_errors	ENST00000340026	ensembl	human	known	70_37	silent	SNP	0.640	C
TRAPPC10	7109	genome.wustl.edu	37	21	45483604	45483604	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45483604G>T	ENST00000291574.4	+	7	1151	c.976G>T	c.(976-978)Gag>Tag	p.E326*		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	326					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAGGCCGTGGGAGGTGGCCCA	0.572																																																	0													92.0	88.0	89.0					21																	45483604		2203	4300	6503	SO:0001587	stop_gained	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.976G>T	21.37:g.45483604G>T	ENSP00000291574:p.Glu326*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Nonsense_Mutation	SNP	NULL	p.E326*	ENST00000291574.4	37	c.976	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.334400	0.98764	.	.	ENSG00000160218	ENST00000291574	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9067	0.97010	0.0:0.0:1.0:0.0	.	.	.	.	X	326	.	ENSP00000291574:E326X	E	+	1	0	TRAPPC10	44308032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.277000	0.95755	2.703000	0.92315	0.655000	0.94253	GAG	TRAPPC10	-	NULL		0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	G	NM_003274		45483604	+1	no_errors	ENST00000291574	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TRAPPC11	60684	genome.wustl.edu	37	4	184606283	184606283	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:184606283C>T	ENST00000334690.6	+	16	1816	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L	TRAPPC11_ENST00000357207.4_Silent_p.L538L|TRAPPC11_ENST00000512476.1_Silent_p.L144L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	538					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L538L(1)									AAAAGAACCTCATAAATGTTT	0.294																																																	1	Substitution - coding silent(1)	large_intestine(1)											77.0	86.0	83.0					4																	184606283		2197	4297	6494	SO:0001819	synonymous_variant	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1614C>T	4.37:g.184606283C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.L538	ENST00000334690.6	37	c.1614	CCDS34112.1	4																																																																																			TRAPPC11	-	NULL		0.294	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184606283	+1	no_errors	ENST00000334690	ensembl	human	known	70_37	silent	SNP	0.997	T
TREML4	285852	genome.wustl.edu	37	6	41196699	41196699	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:41196699C>G	ENST00000341495.2	+	2	415	c.311C>G	c.(310-312)tCg>tGg	p.S104W	TREML4_ENST00000448827.2_Missense_Mutation_p.S104W	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	104	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGAATGACTCGGGATTCTAC	0.463																																																	0													90.0	85.0	86.0					6																	41196699		2203	4300	6503	SO:0001583	missense	285852			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.311C>G	6.37:g.41196699C>G	ENSP00000342570:p.Ser104Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL92	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S104W	ENST00000341495.2	37	c.311	CCDS34446.1	6	.	.	.	.	.	.	.	.	.	.	.	12.12	1.842357	0.32513	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.71222	-0.55;-0.55	4.17	-0.362	0.12560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72447	0.3461	M	0.85373	2.75	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.61123	-0.7126	9	0.87932	D	0	-11.7928	3.676	0.08292	0.0:0.4118:0.1887:0.3995	.	104	Q6UXN2	TRML4_HUMAN	W	104	ENSP00000342570:S104W;ENSP00000418078:S104W	ENSP00000342570:S104W	S	+	2	0	TREML4	41304677	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.178000	0.09782	-0.321000	0.08627	0.543000	0.68304	TCG	TREML4	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.463	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML4	HGNC	protein_coding	OTTHUMT00000043873.2	C			41196699	+1	no_errors	ENST00000341495	ensembl	human	known	70_37	missense	SNP	0.000	G
TRERF1	55809	genome.wustl.edu	37	6	42235924	42235924	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:42235924G>C	ENST00000372922.4	-	5	1967	c.1405C>G	c.(1405-1407)Cag>Gag	p.Q469E	TRERF1_ENST00000541110.1_Missense_Mutation_p.Q469E|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q469E|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q469E|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q469E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	469	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGCTGCTGATGCTGAGGC	0.607																																																	0													62.0	64.0	64.0					6																	42235924		2203	4300	6503	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1405C>G	6.37:g.42235924G>C	ENSP00000362013:p.Gln469Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.Q469E	ENST00000372922.4	37	c.1405	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906743	0.33628	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13307	2.88;2.6;2.85;2.6;2.6	5.17	5.17	0.71159	.	0.362866	0.23648	N	0.045957	T	0.03136	0.0092	N	0.24115	0.695	0.27653	N	0.947346	B;B;B;B;B	0.28636	0.135;0.083;0.083;0.218;0.218	B;B;B;B;B	0.33042	0.157;0.075;0.075;0.157;0.157	T	0.32188	-0.9916	10	0.02654	T	1	-11.5362	14.0274	0.64594	0.0:0.0:1.0:0.0	.	469;469;469;308;308	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	469	ENSP00000439689:Q469E;ENSP00000362008:Q469E;ENSP00000362013:Q469E;ENSP00000339438:Q469E;ENSP00000346285:Q469E	ENSP00000339438:Q469E	Q	-	1	0	TRERF1	42343902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.860000	0.55995	2.688000	0.91661	0.491000	0.48974	CAG	TRERF1	-	NULL		0.607	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	G	NM_033502		42235924	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIM16	10626	genome.wustl.edu	37	17	15539374	15539374	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:15539374G>A	ENST00000578237.1	-	8	1680	c.825C>T	c.(823-825)atC>atT	p.I275I	TRIM16_ENST00000581224.1_5'Flank|TRIM16_ENST00000416464.2_Silent_p.I145I|TRIM16_ENST00000577886.1_Silent_p.I59I|TRIM16_ENST00000579219.1_Silent_p.I59I|TRIM16_ENST00000336708.7_Silent_p.I275I|RP11-385D13.1_ENST00000455584.2_Silent_p.I275I			O95361	TRI16_HUMAN	tripartite motif containing 16	275					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CAGTGTTGCTGATGGCCGCCA	0.607																																																	0													125.0	98.0	107.0					17																	15539374		2187	4298	6485	SO:0001819	synonymous_variant	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.825C>T	17.37:g.15539374G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.I275	ENST00000578237.1	37	c.825	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	g	6.288	0.421317	0.11928	.	.	ENSG00000251537	ENST00000455584	.	.	.	3.97	1.96	0.26148	.	.	.	.	.	T	0.55816	0.1944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48080	-0.9066	4	.	.	.	.	8.1093	0.30905	0.2031:0.0:0.7969:0.0	.	.	.	.	L	290	.	.	S	-	2	0	RP11-385D13.1	15480099	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	1.592000	0.36676	0.470000	0.27294	-0.266000	0.10368	TCA	TRIM16	-	NULL		0.607	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	G	NM_006470		15539374	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	silent	SNP	0.990	A
TRIM16	10626	genome.wustl.edu	37	17	15584410	15584410	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:15584410G>C	ENST00000578237.1	-	4	325				TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000336708.7_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16						histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TCTATGTAATGAGACTTCAAA	0.403																																																	0																																										SO:0001627	intron_variant	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.531-143C>G	17.37:g.15584410G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	RNA	SNP	-	NULL	ENST00000578237.1	37	NULL	CCDS11171.1	17																																																																																			TRIM16	-	-		0.403	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	G	NM_006470		15584410	-1	no_errors	ENST00000579272	ensembl	human	known	70_37	rna	SNP	0.005	C
TRIM31	11074	genome.wustl.edu	37	6	30079611	30079611	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30079611C>G	ENST00000376734.3	-	3	543				TRIM31_ENST00000540829.1_Intron|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_Intron	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31						innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGGTGACACTCTCCAGGTGAG	0.527																																																	0																																										SO:0001627	intron_variant	0			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.418-91G>C	6.37:g.30079611C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	RNA	SNP	-	NULL	ENST00000376734.3	37	NULL	CCDS34374.1	6																																																																																			TRIM31-AS1	-	-		0.527	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31-AS1	HGNC	protein_coding	OTTHUMT00000076081.2	C			30079611	+1	no_errors	ENST00000440874	ensembl	human	known	70_37	rna	SNP	0.000	G
TRIM31	11074	genome.wustl.edu	37	6	30080457	30080457	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30080457C>G	ENST00000376734.3	-	2	251	c.126G>C	c.(124-126)caG>caC	p.Q42H	TRIM31_ENST00000540829.1_Missense_Mutation_p.Q42H|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	42					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTCCCCAATCTGAGTGATGC	0.483																																																	0													113.0	116.0	115.0					6																	30080457		1511	2709	4220	SO:0001583	missense	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.126G>C	6.37:g.30080457C>G	ENSP00000365924:p.Gln42His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata	p.Q42H	ENST00000376734.3	37	c.126	CCDS34374.1	6	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718523	0.30503	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	D;D	0.84442	-1.85;-1.85	3.98	-0.331	0.12679	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	2.138560	0.02980	N	0.145556	T	0.81226	0.4778	L	0.51914	1.62	0.09310	N	1	D	0.65815	0.995	D	0.67231	0.95	T	0.64390	-0.6419	10	0.54805	T	0.06	.	2.1986	0.03917	0.3097:0.2879:0.3037:0.0987	.	42	Q9BZY9	TRI31_HUMAN	H	42	ENSP00000365924:Q42H;ENSP00000444311:Q42H	ENSP00000365918:Q42H	Q	-	3	2	TRIM31	30188436	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.301000	0.01137	0.081000	0.16988	0.549000	0.68633	CAG	TRIM31	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.483	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	HGNC	protein_coding	OTTHUMT00000076081.2	C			30080457	-1	no_errors	ENST00000376734	ensembl	human	known	70_37	missense	SNP	0.000	G
TRIM5	85363	genome.wustl.edu	37	11	5701146	5701146	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5701146C>G	ENST00000380034.3	-	2	518	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	TRIM5_ENST00000396855.3_Missense_Mutation_p.E88Q|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396847.3_Missense_Mutation_p.E88Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.E88Q|TRIM5_ENST00000305836.5_Missense_Mutation_p.E88Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.E88Q	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	88					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTCTGCCCCTCTGGGCTCAAC	0.532																																																	0													159.0	144.0	149.0					11																	5701146		2201	4297	6498	SO:0001583	missense	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.262G>C	11.37:g.5701146C>G	ENSP00000369373:p.Glu88Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E88Q	ENST00000380034.3	37	c.262	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827199	0.16749	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	4.07	1.17	0.20885	Zinc finger, RING/FYVE/PHD-type (1);	0.429389	0.19971	N	0.101988	T	0.62744	0.2453	M	0.80422	2.495	0.09310	N	1	P;B;D	0.56287	0.749;0.317;0.975	B;B;P	0.55161	0.281;0.205;0.77	T	0.55398	-0.8147	10	0.72032	D	0.01	.	7.8821	0.29629	0.0:0.7093:0.0:0.2907	.	88;88;88	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	Q	88	ENSP00000380064:E88Q;ENSP00000307031:E88Q;ENSP00000369373:E88Q;ENSP00000369366:E88Q;ENSP00000380058:E88Q;ENSP00000380062:E88Q;ENSP00000388031:E88Q	ENSP00000307031:E88Q	E	-	1	0	TRIM5	5657722	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.719000	0.04974	0.274000	0.22072	0.650000	0.86243	GAG	TRIM5	-	NULL		0.532	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	C	NM_033034		5701146	-1	no_errors	ENST00000305836	ensembl	human	known	70_37	missense	SNP	0.135	G
TRIM56	81844	genome.wustl.edu	37	7	100732942	100732942	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100732942G>A	ENST00000306085.6	+	0	2646				TRIM56_ENST00000487252.1_3'UTR	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTGGAGGCCGAGGACATTTT	0.572																																					Ovarian(89;1092 1379 22756 38989 39611)												0																																										SO:0001624	3_prime_UTR_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.*81G>A	7.37:g.100732942G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	RNA	SNP	-	NULL	ENST00000306085.6	37	NULL	CCDS43625.1	7																																																																																			TRIM56	-	-		0.572	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	G	NM_030961		100732942	+1	no_errors	ENST00000487252	ensembl	human	putative	70_37	rna	SNP	0.000	A
TRIM65	201292	genome.wustl.edu	37	17	73887309	73887309	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73887309C>G	ENST00000269383.3	-	6	1170	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	369	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCAGAGCTCAAAGCTGCCG	0.657																																																	0													20.0	22.0	21.0					17																	73887309		2175	4260	6435	SO:0001583	missense	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1105G>C	17.37:g.73887309C>G	ENSP00000269383:p.Glu369Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E369Q	ENST00000269383.3	37	c.1105	CCDS11732.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.253|8.253	0.809539|0.809539	0.16537|0.16537	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.73047|.	-0.71|.	5.33|5.33	-1.1|-1.1	0.09872|0.09872	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);|.	0.501749|.	0.18149|.	N|.	0.150151|.	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.11698|0.11698	0.16|0.16	0.22531|0.22531	N|N	0.999019|0.999019	B|.	0.13145|.	0.007|.	B|.	0.10450|.	0.005|.	T|T	0.31052|0.31052	-0.9957|-0.9957	10|5	0.13853|.	T|.	0.58|.	.|.	8.7241|8.7241	0.34458|0.34458	0.0978:0.4285:0.4093:0.0643|0.0978:0.4285:0.4093:0.0643	.|.	369|.	Q6PJ69|.	TRI65_HUMAN|.	Q|F	369|220	ENSP00000269383:E369Q|.	ENSP00000269383:E369Q|.	E|L	-|-	1|3	0|2	TRIM65|TRIM65	71398904|71398904	0.023000|0.023000	0.18921|0.18921	0.791000|0.791000	0.31998|0.31998	0.288000|0.288000	0.27193|0.27193	0.230000|0.230000	0.17852|0.17852	-0.004000|-0.004000	0.14419|0.14419	-0.181000|-0.181000	0.13052|0.13052	GAG|TTG	TRIM65	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.657	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	HGNC	protein_coding	OTTHUMT00000255170.2	C	NM_173547		73887309	-1	no_errors	ENST00000269383	ensembl	human	known	70_37	missense	SNP	0.812	G
TRIM7	81786	genome.wustl.edu	37	5	180625192	180625192	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:180625192C>G	ENST00000274773.7	-	6	1076	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	TRIM7_ENST00000361809.3_Missense_Mutation_p.E131Q|TRIM7_ENST00000393315.1_Missense_Mutation_p.E131Q|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.E131Q|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E157Q|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	339	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCTTTCTCCTCTTTCTCCAGC	0.527																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													261.0	201.0	221.0					5																	180625192		2203	4300	6503	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1015G>C	5.37:g.180625192C>G	ENSP00000274773:p.Glu339Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E339Q	ENST00000274773.7	37	c.1015	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	C	7.333	0.619337	0.14129	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.57107	0.74;0.45;0.45;0.42;0.45	5.22	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.879128	0.09627	N	0.776686	T	0.49098	0.1537	N	0.13043	0.29	0.30491	N	0.77136	D;B	0.61697	0.99;0.004	P;B	0.60068	0.868;0.004	T	0.26677	-1.0096	10	0.11794	T	0.64	.	10.2411	0.43312	0.0:0.9075:0.0:0.0925	.	339;157	Q9C029;Q9C029-4	TRIM7_HUMAN;.	Q	339;131;131;157;131	ENSP00000274773:E339Q;ENSP00000376991:E131Q;ENSP00000355059:E131Q;ENSP00000376994:E157Q;ENSP00000391458:E131Q	ENSP00000274773:E339Q	E	-	1	0	TRIM7	180557798	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	4.305000	0.59110	1.326000	0.45319	-0.291000	0.09656	GAG	TRIM7	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.527	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	C	NM_203296		180625192	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM9	114088	genome.wustl.edu	37	14	51467466	51467466	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:51467466G>C	ENST00000298355.3	-	6	2520	c.1399C>G	c.(1399-1401)Ctg>Gtg	p.L467V	TRIM9_ENST00000338969.5_Missense_Mutation_p.L463V|TRIM9_ENST00000360392.4_Missense_Mutation_p.L467V	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	467	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCGTGGACAGAGGTGGCTGT	0.542																																																	0													113.0	98.0	103.0					14																	51467466		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1399C>G	14.37:g.51467466G>C	ENSP00000298355:p.Leu467Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L463V	ENST00000298355.3	37	c.1387	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352291	0.24512	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.55930	1.56;0.49;1.56	5.6	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061565	0.64402	D	0.000004	T	0.34542	0.0901	N	0.19112	0.55	0.39632	D	0.970187	B;B;B	0.21309	0.0;0.054;0.001	B;B;B	0.25506	0.002;0.061;0.009	T	0.19031	-1.0318	10	0.29301	T	0.29	.	7.9536	0.30029	0.129:0.0:0.7185:0.1525	.	467;463;467	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	V	467;463;467	ENSP00000298355:L467V;ENSP00000342970:L463V;ENSP00000353561:L467V	ENSP00000298355:L467V	L	-	1	2	TRIM9	50537216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.728000	0.54991	2.648000	0.89879	0.591000	0.81541	CTG	TRIM9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51467466	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIP12	9320	genome.wustl.edu	37	2	230633395	230633395	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:230633395C>G	ENST00000283943.5	-	40	5897	c.5719G>C	c.(5719-5721)Gat>Cat	p.D1907H	TRIP12_ENST00000389045.3_Missense_Mutation_p.D1637H|TRIP12_ENST00000389044.4_Missense_Mutation_p.D1955H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1907	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGCTCATTATCAAAACTACTG	0.358																																																	0													100.0	92.0	95.0					2																	230633395		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5719G>C	2.37:g.230633395C>G	ENSP00000283943:p.Asp1907His	Somatic		WXS	Illumina HiSeq	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.D1907H	ENST00000283943.5	37	c.5719	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025881	0.93518	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.97	5.97	0.96955	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.81807	-0.0763	10	0.66056	D	0.02	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	1637;1955;1907	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	1907;1637;1955;167	ENSP00000283943:D1907H;ENSP00000373697:D1637H;ENSP00000373696:D1955H;ENSP00000408330:D167H	ENSP00000283943:D1907H	D	-	1	0	TRIP12	230341639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.835000	0.97688	0.591000	0.81541	GAT	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.358	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	C	NM_004238		230633395	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIP12	9320	genome.wustl.edu	37	2	230636303	230636303	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:230636303C>G	ENST00000283943.5	-	38	5693	c.5515G>C	c.(5515-5517)Gat>Cat	p.D1839H	TRIP12_ENST00000389045.3_Missense_Mutation_p.D1569H|TRIP12_ENST00000389044.4_Missense_Mutation_p.D1887H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1839					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGAACGAATCAAATTGCCTA	0.368																																																	0													85.0	83.0	84.0					2																	230636303		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5515G>C	2.37:g.230636303C>G	ENSP00000283943:p.Asp1839His	Somatic		WXS	Illumina HiSeq	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.D1839H	ENST00000283943.5	37	c.5515	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790522	0.90367	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.45276	0.9;0.9;0.9	5.85	5.85	0.93711	HECT (4);	0.044715	0.85682	D	0.000000	T	0.58119	0.2100	L	0.45228	1.405	0.80722	D	1	P;P;P	0.49783	0.57;0.928;0.928	P;P;P	0.61592	0.664;0.891;0.891	T	0.57075	-0.7873	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1569;1887;1839	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	1839;1569;1887	ENSP00000283943:D1839H;ENSP00000373697:D1569H;ENSP00000373696:D1887H	ENSP00000283943:D1839H	D	-	1	0	TRIP12	230344547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.308000	0.78929	2.767000	0.95098	0.563000	0.77884	GAT	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.368	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	C	NM_004238		230636303	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	missense	SNP	1.000	G
TRMT2A	27037	genome.wustl.edu	37	22	20104027	20104027	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20104027C>G	ENST00000252136.7	-	2	521	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	TRMT2A_ENST00000404751.3_Missense_Mutation_p.E45Q|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E45Q|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E45Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	45					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCAGCGCCCTCTTTCTCCACC	0.647																																																	0													20.0	26.0	24.0					22																	20104027		2125	4150	6275	SO:0001583	missense	27037			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.133G>C	22.37:g.20104027C>G	ENSP00000252136:p.Glu45Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.E45Q	ENST00000252136.7	37	c.133	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270351	0.40194	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.50001	0.77;0.77;0.76	5.2	4.18	0.49190	.	0.871390	0.10158	N	0.708648	T	0.32526	0.0832	L	0.39898	1.24	0.25081	N	0.990929	P;B;B	0.44578	0.838;0.165;0.165	B;B;B	0.35413	0.202;0.094;0.059	T	0.05419	-1.0886	10	0.13853	T	0.58	-4.3119	8.0673	0.30667	0.1561:0.7614:0.0:0.0825	.	45;45;45	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	Q	45;45;45;45;33	ENSP00000252136:E45Q;ENSP00000385807:E45Q;ENSP00000395738:E45Q	ENSP00000252136:E45Q	E	-	1	0	TRMT2A	18484027	0.001000	0.12720	0.001000	0.08648	0.132000	0.20833	0.960000	0.29253	1.207000	0.43291	0.491000	0.48974	GAG	TRMT2A	-	NULL		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	C	NM_022727		20104027	-1	no_errors	ENST00000252136	ensembl	human	known	70_37	missense	SNP	0.002	G
TRPM4	54795	genome.wustl.edu	37	19	49714276	49714276	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49714276G>A	ENST00000252826.5	+	23	3592	c.3466G>A	c.(3466-3468)Gac>Aac	p.D1156N	TRPM4_ENST00000355712.5_Missense_Mutation_p.D802N|TRPM4_ENST00000427978.2_Missense_Mutation_p.D1011N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1156	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTCAGGGTGGACTTGGCACT	0.682																																																	0													36.0	34.0	34.0					19																	49714276		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3466G>A	19.37:g.49714276G>A	ENSP00000252826:p.Asp1156Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D1156N	ENST00000252826.5	37	c.3466	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360712	0.61403	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.60672	0.23;0.17;0.36	4.99	4.99	0.66335	.	0.065474	0.56097	D	0.000026	T	0.65091	0.2658	L	0.29908	0.895	0.40820	D	0.983492	D;D;D;D	0.89917	0.961;0.977;0.977;1.0	P;P;P;D	0.91635	0.617;0.787;0.787;0.999	T	0.67964	-0.5534	10	0.56958	D	0.05	-24.5182	14.1319	0.65260	0.0:0.0:1.0:0.0	.	802;982;1011;1156	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	N	1156;1011;802	ENSP00000252826:D1156N;ENSP00000407492:D1011N;ENSP00000347944:D802N	ENSP00000252826:D1156N	D	+	1	0	TRPM4	54406088	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.055000	0.57441	2.484000	0.83849	0.561000	0.74099	GAC	TRPM4	-	NULL		0.682	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	G	NM_017636		49714276	+1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPM7	54822	genome.wustl.edu	37	15	50875324	50875324	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:50875324C>G	ENST00000313478.7	-	29	4800	c.4519G>C	c.(4519-4521)Gac>Cac	p.D1507H	TRPM7_ENST00000561443.1_5'Flank|TRPM7_ENST00000560955.1_Missense_Mutation_p.D1506H	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1507					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCATGAGTGTCTTCGGTAGAT	0.279																																																	0													59.0	57.0	58.0					15																	50875324		1784	4051	5835	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4519G>C	15.37:g.50875324C>G	ENSP00000320239:p.Asp1507His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D1507H	ENST00000313478.7	37	c.4519	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939887	0.73557	.	.	ENSG00000092439	ENST00000313478	T	0.55234	0.53	5.39	5.39	0.77823	.	0.835512	0.11117	N	0.597816	T	0.60104	0.2243	L	0.51422	1.61	0.54753	D	0.99998	P	0.38642	0.641	B	0.43916	0.436	T	0.61148	-0.7121	10	0.72032	D	0.01	-5.8641	19.13	0.93402	0.0:1.0:0.0:0.0	.	1507	Q96QT4	TRPM7_HUMAN	H	1507	ENSP00000320239:D1507H	ENSP00000320239:D1507H	D	-	1	0	TRPM7	48662616	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.114000	0.64648	2.523000	0.85059	0.491000	0.48974	GAC	TRPM7	-	NULL		0.279	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	C	NM_017672		50875324	-1	no_errors	ENST00000313478	ensembl	human	known	70_37	missense	SNP	1.000	G
TRPM8	79054	genome.wustl.edu	37	2	234894477	234894477	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:234894477C>G	ENST00000324695.4	+	21	2947	c.2907C>G	c.(2905-2907)atC>atG	p.I969M	TRPM8_ENST00000433712.2_Missense_Mutation_p.I547M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	969					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCACCAACATCCTGCTGGTCA	0.577																																																	0													131.0	89.0	104.0					2																	234894477		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2907C>G	2.37:g.234894477C>G	ENSP00000323926:p.Ile969Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I969M	ENST00000324695.4	37	c.2907	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595011	0.66219	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.42900	0.96;0.96;0.96	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.64402	D	0.000007	T	0.69663	0.3136	M	0.87900	2.915	0.26274	N	0.978377	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.67078	-0.5761	10	0.87932	D	0	-30.825	16.7901	0.85586	0.0:1.0:0.0:0.0	.	547;969	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	M	969;547;230	ENSP00000323926:I969M;ENSP00000404423:I547M;ENSP00000414198:I230M	ENSP00000323926:I969M	I	+	3	3	TRPM8	234559216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.876000	0.56115	2.306000	0.77630	0.591000	0.81541	ATC	TRPM8	-	pfam_Ion_trans_dom		0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	C	NM_024080		234894477	+1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	1.000	G
TRPV4	59341	genome.wustl.edu	37	12	110236473	110236473	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:110236473G>A	ENST00000418703.2	-	5	1192	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	TRPV4_ENST00000261740.2_Silent_p.L366L|TRPV4_ENST00000544971.1_Silent_p.L319L|TRPV4_ENST00000536838.1_Silent_p.L332L|TRPV4_ENST00000346520.2_Silent_p.L366L|TRPV4_ENST00000537083.1_Silent_p.L366L|TRPV4_ENST00000392719.2_Silent_p.L319L|TRPV4_ENST00000541794.1_Silent_p.L319L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	366					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGTCGTTGTTGAGCACGGCCT	0.602																																																	0													81.0	65.0	70.0					12																	110236473		2203	4300	6503	SO:0001819	synonymous_variant	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1098C>T	12.37:g.110236473G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.L366	ENST00000418703.2	37	c.1098	CCDS9134.1	12																																																																																			TRPV4	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV4_channel,tigrfam_TRP_channel		0.602	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110236473	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	silent	SNP	1.000	A
TRRAP	8295	genome.wustl.edu	37	7	98491433	98491433	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:98491433G>C	ENST00000359863.4	+	6	588	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E127Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E127Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	127					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAAATGAAGAAAATGTTCT	0.323																																																	0													73.0	78.0	77.0					7																	98491433		2203	4299	6502	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.379G>C	7.37:g.98491433G>C	ENSP00000352925:p.Glu127Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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.E127Q	ENST00000359863.4	37	c.379	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034511	0.75617	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.67345	3.46;-0.26	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82467	0.5043	M	0.78456	2.415	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	D	0.84465	0.0596	10	0.72032	D	0.01	.	19.0215	0.92917	0.0:0.0:1.0:0.0	.	127;127	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	Q	127	ENSP00000352925:E127Q;ENSP00000347733:E127Q	ENSP00000347733:E127Q	E	+	1	0	TRRAP	98329369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.633000	0.98432	2.584000	0.87258	0.555000	0.69702	GAA	TRRAP	-	superfamily_ARM-type_fold		0.323	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98491433	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	C
TRPV5	56302	genome.wustl.edu	37	7	142606661	142606661	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:142606661G>A	ENST00000265310.1	-	14	2238	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	630					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCACCGCAGGAACCAGCGGT	0.617																																																	0													90.0	77.0	81.0					7																	142606661		2203	4300	6503	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1890C>T	7.37:g.142606661G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.F630	ENST00000265310.1	37	c.1890	CCDS5875.1	7																																																																																			TRPV5	-	prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel		0.617	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	G	NM_019841		142606661	-1	no_errors	ENST00000265310	ensembl	human	known	70_37	silent	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2103360	2103360	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2103360C>G	ENST00000219476.3	+	4	873	c.243C>G	c.(241-243)ctC>ctG	p.L81L	TSC2_ENST00000382538.6_Silent_p.L32L|TSC2_ENST00000568454.1_Silent_p.L92L|TSC2_ENST00000353929.4_Silent_p.L81L|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Silent_p.L81L|TSC2_ENST00000350773.4_Silent_p.L81L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	81	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAAGCACTCTGGAAGGCGG	0.677			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													21.0	19.0	20.0					16																	2103360		2194	4293	6487	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.243C>G	16.37:g.2103360C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L81	ENST00000219476.3	37	c.243	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.677	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2103360	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.739	G
TSEN54	283989	genome.wustl.edu	37	17	73517555	73517555	+	Missense_Mutation	SNP	G	G	C	rs377382148		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73517555G>C	ENST00000333213.6	+	7	623	c.587G>C	c.(586-588)gGa>gCa	p.G196A		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	196					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGAGGATGGAGATGGCAAG	0.607																																																	0													104.0	95.0	98.0					17																	73517555		2203	4300	6503	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.587G>C	17.37:g.73517555G>C	ENSP00000327487:p.Gly196Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.G196A	ENST00000333213.6	37	c.587	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145673	0.06627	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.55234	0.53	5.51	-2.47	0.06442	.	1.257390	0.05135	N	0.493185	T	0.39118	0.1066	L	0.29908	0.895	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.27905	-1.0060	10	0.14656	T	0.56	0.0137	11.4097	0.49919	0.5967:0.0:0.4033:0.0	.	196	Q7Z6J9	SEN54_HUMAN	A	95;196	ENSP00000327487:G196A	ENSP00000327487:G196A	G	+	2	0	TSEN54	71029150	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.166000	0.16583	-0.427000	0.07350	-0.140000	0.14226	GGA	TSEN54	-	NULL		0.607	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	G	NM_207346		73517555	+1	no_errors	ENST00000333213	ensembl	human	known	70_37	missense	SNP	0.000	C
TSGA13	114960	genome.wustl.edu	37	7	130357681	130357681	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:130357681G>C	ENST00000456951.1	-	7	1274	c.423C>G	c.(421-423)ctC>ctG	p.L141L	TSGA13_ENST00000356588.3_Silent_p.L141L			Q96PP4	TSG13_HUMAN	testis specific, 13	141										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGGGCAGCCAGAGGTTCTCAG	0.463																																																	0													119.0	114.0	116.0					7																	130357681		2203	4300	6503	SO:0001819	synonymous_variant	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.423C>G	7.37:g.130357681G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSC9	Silent	SNP	NULL	p.L141	ENST00000456951.1	37	c.423	CCDS5824.1	7																																																																																			TSGA13	-	NULL		0.463	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	G	NM_052933		130357681	-1	no_errors	ENST00000356588	ensembl	human	known	70_37	silent	SNP	0.000	C
TSKS	60385	genome.wustl.edu	37	19	50243365	50243365	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50243365C>T	ENST00000246801.3	-	10	1655	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	TSKS_ENST00000358830.3_Missense_Mutation_p.E325K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	525					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCAGGGCCTCGTCTTGGGCC	0.632																																																	0													71.0	73.0	72.0					19																	50243365		2203	4300	6503	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1573G>A	19.37:g.50243365C>T	ENSP00000246801:p.Glu525Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WXJ0	Missense_Mutation	SNP	NULL	p.E525K	ENST00000246801.3	37	c.1573	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335983	0.81801	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.44482	0.92;0.92	4.81	4.81	0.61882	.	0.119977	0.37483	N	0.002079	T	0.48295	0.1492	N	0.24115	0.695	0.35727	D	0.817581	D	0.76494	0.999	D	0.76575	0.988	T	0.55386	-0.8149	10	0.38643	T	0.18	-11.6883	13.2401	0.59992	0.0:1.0:0.0:0.0	.	525	Q9UJT2	TSKS_HUMAN	K	525;325	ENSP00000246801:E525K;ENSP00000351691:E325K	ENSP00000246801:E525K	E	-	1	0	TSKS	54935177	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.636000	0.54317	2.490000	0.84030	0.609000	0.83330	GAG	TSKS	-	NULL		0.632	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50243365	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	1.000	T
TSPAN8	7103	genome.wustl.edu	37	12	71531992	71531992	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:71531992G>C	ENST00000393330.2	-	8	832	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	TSPAN8_ENST00000546561.1_Missense_Mutation_p.L94V|TSPAN8_ENST00000552786.1_5'Flank|TSPAN8_ENST00000552128.1_Missense_Mutation_p.L11V|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L94V			P19075	TSN8_HUMAN	tetraspanin 8	94					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AGCAGGATCAGAAGCAAGCCT	0.403																																																	0													112.0	128.0	122.0					12																	71531992		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.280C>G	12.37:g.71531992G>C	ENSP00000377003:p.Leu94Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L94V	ENST00000393330.2	37	c.280	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.866575	0.00547	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.71	-1.39	0.08997	.	0.564784	0.18328	N	0.144579	T	0.59905	0.2228	N	0.21373	0.66	0.38052	D	0.935819	B	0.19817	0.039	B	0.20955	0.032	T	0.32455	-0.9906	10	0.22109	T	0.4	.	3.6826	0.08316	0.1472:0.3462:0.3882:0.1184	.	94	P19075	TSN8_HUMAN	V	94;94;94;11	ENSP00000377003:L94V;ENSP00000247829:L94V;ENSP00000447160:L94V;ENSP00000449820:L11V	ENSP00000247829:L94V	L	-	1	2	TSPAN8	69818259	0.060000	0.20803	0.744000	0.31058	0.175000	0.22909	-0.968000	0.03817	-0.229000	0.09854	-0.150000	0.13652	CTG	TSPAN8	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.403	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	G	NM_004616		71531992	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.978	C
TTC17	55761	genome.wustl.edu	37	11	43411241	43411241	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:43411241G>C	ENST00000039989.4	+	3	303	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.E97Q	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	97					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAAGAGAATGAGGACAGAGA	0.393																																																	0													118.0	111.0	113.0					11																	43411241		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.289G>C	11.37:g.43411241G>C	ENSP00000039989:p.Glu97Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E97Q	ENST00000039989.4	37	c.289	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613191	0.87359	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.35789	1.29;1.32	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.991;0.999	T	0.56792	-0.7920	10	0.44086	T	0.13	-17.4571	18.3743	0.90430	0.0:0.0:1.0:0.0	.	97;97;97	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Q	97	ENSP00000299240:E97Q;ENSP00000039989:E97Q	ENSP00000039989:E97Q	E	+	1	0	TTC17	43367817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.400000	0.81607	0.563000	0.77884	GAG	TTC17	-	NULL		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	G	NM_018259		43411241	+1	no_errors	ENST00000039989	ensembl	human	known	70_37	missense	SNP	1.000	C
TTC21A	199223	genome.wustl.edu	37	3	39171766	39171766	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:39171766G>A	ENST00000431162.2	+	17	2391	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	TTC21A_ENST00000440121.1_Missense_Mutation_p.E705K|TTC21A_ENST00000301819.6_Missense_Mutation_p.E754K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	753										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCTATGATGAGGCCTATAG	0.587																																																	0													46.0	47.0	47.0					3																	39171766		1935	4133	6068	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2257G>A	3.37:g.39171766G>A	ENSP00000398211:p.Glu753Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E754K	ENST00000431162.2	37	c.2260	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635564	0.29068	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.58210	0.35;0.35;0.35	4.85	2.92	0.33932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.287648	0.28125	N	0.016506	T	0.28433	0.0703	N	0.11673	0.155	0.27005	N	0.964816	B;P;P	0.43578	0.274;0.775;0.811	B;B;B	0.43838	0.112;0.306;0.433	T	0.31558	-0.9939	10	0.02654	T	1	-14.3503	8.1092	0.30905	0.0873:0.2777:0.635:0.0	.	705;754;753	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	754;736;753;705	ENSP00000301819:E754K;ENSP00000398211:E753K;ENSP00000410882:E705K	ENSP00000301819:E754K	E	+	1	0	TTC21A	39146770	0.869000	0.29996	0.664000	0.29753	0.141000	0.21300	1.467000	0.35321	1.188000	0.43014	-0.251000	0.11542	GAG	TTC21A	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.587	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755		39171766	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.561	A
TTC27	55622	genome.wustl.edu	37	2	32855589	32855589	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:32855589G>A	ENST00000317907.4	+	2	319		c.e2-1			NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27									p.?(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTATATTACAGAGAGTGGATC	0.303																																																	2	Unknown(2)	lung(2)											34.0	38.0	36.0					2																	32855589		2197	4295	6492	SO:0001630	splice_region_variant	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.89-1G>A	2.37:g.32855589G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Splice_Site	SNP	-	e2-1	ENST00000317907.4	37	c.89-1	CCDS33176.1	2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938438	0.34189	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5614	0.84567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC27	32709093	1.000000	0.71417	0.999000	0.59377	0.269000	0.26545	6.572000	0.74005	2.706000	0.92434	0.561000	0.74099	.	TTC27	-	-		0.303	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	G	NM_017735	Intron	32855589	+1	no_errors	ENST00000317907	ensembl	human	known	70_37	splice_site	SNP	1.000	A
TTC3	7267	genome.wustl.edu	37	21	38525250	38525250	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:38525250G>C	ENST00000399017.2	+	27	5160		c.e27-1		TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTATCCTTAGAAACTGTAGA	0.294																																					Ovarian(38;194 1649 35661)												0													28.0	30.0	29.0					21																	38525250		2202	4296	6498	SO:0001630	splice_region_variant	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2414-1G>C	21.37:g.38525250G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	-	e26-1	ENST00000399017.2	37	c.2414-1	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561110	0.45590	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749;ENST00000414818	.	.	.	5.51	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.20638	N	0.999875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0395	0.25013	0.0933:0.0:0.6487:0.2579	.	.	.	.	.	-1	.	.	.	+	.	.	TTC3	37447120	0.029000	0.19370	0.202000	0.23494	0.777000	0.43975	1.486000	0.35530	2.597000	0.87782	0.650000	0.86243	.	TTC3	-	-		0.294	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G		Intron	38525250	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	splice_site	SNP	0.001	C
TTC33	23548	genome.wustl.edu	37	5	40730373	40730373	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:40730373C>T	ENST00000337702.4	-	3	446	c.294G>A	c.(292-294)atG>atA	p.M98I	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	98								p.M98I(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGTGATTTCATCTCGTATA	0.368																																																	1	Substitution - Missense(1)	urinary_tract(1)											147.0	137.0	140.0					5																	40730373		2203	4300	6503	SO:0001583	missense	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.294G>A	5.37:g.40730373C>T	ENSP00000338533:p.Met98Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6G0|O95105	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M98I	ENST00000337702.4	37	c.294	CCDS3931.1	5	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549517	0.65311	.	.	ENSG00000113638	ENST00000337702	T	0.59224	0.28	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.75447	2.3	0.80722	D	1	B	0.18610	0.029	B	0.23018	0.043	T	0.57353	-0.7826	10	0.38643	T	0.18	-18.1129	18.3196	0.90232	0.0:1.0:0.0:0.0	.	98	Q6PID6	TTC33_HUMAN	I	98	ENSP00000338533:M98I	ENSP00000338533:M98I	M	-	3	0	TTC33	40766130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.484000	0.73621	2.764000	0.94973	0.655000	0.94253	ATG	TTC33	-	pfscan_TPR-contain_dom		0.368	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC33	HGNC	protein_coding	OTTHUMT00000253831.1	C	NM_012382		40730373	-1	no_errors	ENST00000337702	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP46	54777	genome.wustl.edu	37	10	134731957	134731957	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:134731957C>T	ENST00000368586.5	-	16	2026	c.1926G>A	c.(1924-1926)caG>caA	p.Q642Q	TTC40_ENST00000368582.2_Silent_p.Q642Q	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACACCTGCCTCTGCAGGACGA	0.617																																																	0																																										SO:0001819	synonymous_variant	54777																														ENST00000368586.5:c.1926G>A	10.37:g.134731957C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.Q642	ENST00000368586.5	37	c.1926	CCDS58101.1	10																																																																																			TTC40	-	NULL		0.617	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	C			134731957	-1	no_errors	ENST00000368582	ensembl	human	known	70_37	silent	SNP	0.000	T
TTF1	7270	genome.wustl.edu	37	9	135266142	135266142	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:135266142C>A	ENST00000334270.2	-	7	2103	c.2064G>T	c.(2062-2064)aaG>aaT	p.K688N		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	688	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGGGAGACATCTTCTTCAGAA	0.403																																																	0													149.0	156.0	154.0					9																	135266142		2203	4300	6503	SO:0001583	missense	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2064G>T	9.37:g.135266142C>A	ENSP00000333920:p.Lys688Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K688N	ENST00000334270.2	37	c.2064	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623438	0.66901	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11712	2.75	5.58	-0.842	0.10748	SANT domain, DNA binding (1);MYB-like (1);	0.184106	0.34750	N	0.003710	T	0.12263	0.0298	L	0.27053	0.805	0.27393	N	0.955062	D	0.63880	0.993	P	0.58391	0.838	T	0.22487	-1.0215	10	0.21540	T	0.41	.	10.364	0.44012	0.0:0.674:0.0:0.326	.	688	Q15361	TTF1_HUMAN	N	688	ENSP00000333920:K688N	ENSP00000245588:K688N	K	-	3	2	TTF1	134255963	0.608000	0.26966	0.997000	0.53966	0.868000	0.49771	-0.036000	0.12185	-0.131000	0.11578	-0.294000	0.09567	AAG	TTF1	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	C	NM_007344		135266142	-1	no_errors	ENST00000334270	ensembl	human	known	70_37	missense	SNP	0.995	A
TTLL10	254173	genome.wustl.edu	37	1	1111486	1111486	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:1111486C>G	ENST00000379290.1	+	3	146				TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Intron			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACTGCTGCTCCCAGCCGCTG	0.662																																																	0																																										SO:0001627	intron_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-28+1617C>G	1.37:g.1111486C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.662	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	C	NM_153254		1111486	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	SNP	0.367	G
TTLL11	158135	genome.wustl.edu	37	9	124632838	124632838	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:124632838G>A	ENST00000321582.5	-	7	2128	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCAGGAACCGGATAAACAAAT	0.537																																																	0													80.0	71.0	74.0					9																	124632838		692	1591	2283	SO:0001819	synonymous_variant	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.1941C>T	9.37:g.124632838G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Tub_tyr_ligase	p.I647	ENST00000321582.5	37	c.1941	CCDS48012.1	9																																																																																			TTLL11	-	NULL		0.537	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		G	XM_088486		124632838	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	silent	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179417953	179417953	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179417953C>T	ENST00000591111.1	-	285	84975	c.84751G>A	c.(84751-84753)Gat>Aat	p.D28251N	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20952N|TTN_ENST00000460472.2_Missense_Mutation_p.D20827N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21019N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D29892N|TTN_ENST00000342992.6_Missense_Mutation_p.D27324N			Q8WZ42	TITIN_HUMAN	titin	28251	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGATGAATCAGTGTTTTCA	0.398																																																	0													215.0	208.0	210.0					2																	179417953		1945	4140	6085	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84751G>A	2.37:g.179417953C>T	ENSP00000465570:p.Asp28251Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D27324N	ENST00000591111.1	37	c.81970		2	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778558	0.70107	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50154	0.1599	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48952	0.519;0.519;0.519;0.596	T	0.51466	-0.8702	9	0.87932	D	0	.	19.7818	0.96418	0.0:1.0:0.0:0.0	.	20827;20952;21019;28251	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27324;20827;21019;20952;20824	ENSP00000343764:D27324N;ENSP00000434586:D20827N;ENSP00000340554:D21019N;ENSP00000352154:D20952N	ENSP00000340554:D21019N	D	-	1	0	TTN	179126199	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	4.912000	0.63335	2.736000	0.93811	0.655000	0.94253	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179417953	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179592389	179592389	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179592389G>A	ENST00000591111.1	-	66	19189	c.18965C>T	c.(18964-18966)tCt>tTt	p.S6322F	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6639F|TTN_ENST00000342992.6_Missense_Mutation_p.S5395F			Q8WZ42	TITIN_HUMAN	titin	13098	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGTCTTAGAAGCATCCAC	0.408																																																	0													200.0	204.0	203.0					2																	179592389		2030	4198	6228	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18965C>T	2.37:g.179592389G>A	ENSP00000465570:p.Ser6322Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S5395F	ENST00000591111.1	37	c.16184		2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583936	0.28268	.	.	ENSG00000155657	ENST00000342992	T	0.48522	0.81	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67449	0.2894	M	0.91249	3.19	0.80722	D	1	P	0.50369	0.934	P	0.51016	0.656	T	0.75025	-0.3463	9	0.87932	D	0	.	14.6024	0.68450	0.069:0.0:0.931:0.0	.	6322	Q8WZ42	TITIN_HUMAN	F	5395	ENSP00000343764:S5395F	ENSP00000343764:S5395F	S	-	2	0	TTN	179300634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.709000	0.74665	2.840000	0.97914	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179592389	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	A
TTN	7273	genome.wustl.edu	37	2	179612777	179612777	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179612777C>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E4784Q|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTGCATTCTTCTTCCATT	0.443																																																	0													66.0	61.0	63.0					2																	179612777		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5073G>C	2.37:g.179612777C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E4784Q	ENST00000591111.1	37	c.14350		2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867603	0.72065	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59906	0.23	6.05	4.26	0.50523	.	.	.	.	.	T	0.49081	0.1536	L	0.40543	1.245	0.80722	D	1	P	0.49783	0.928	B	0.43103	0.408	T	0.46541	-0.9184	9	0.46703	T	0.11	.	10.9529	0.47341	0.0:0.8569:0.0:0.1431	.	4784	Q8WZ42-6	.	Q	4784;98	ENSP00000354117:E4784Q	ENSP00000304714:E98Q	E	-	1	0	TTN	179321022	0.069000	0.21087	0.069000	0.20011	0.209000	0.24338	0.862000	0.27899	0.897000	0.36392	0.650000	0.86243	GAA	TTN	-	NULL		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179612777	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.933	G
TTN	7273	genome.wustl.edu	37	2	179641473	179641473	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179641473C>T	ENST00000591111.1	-	28	5342	c.5118G>A	c.(5116-5118)aaG>aaA	p.K1706K	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.K1706K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.K1660K|TTN_ENST00000460472.2_Silent_p.K1660K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.K1660K|TTN_ENST00000589042.1_Silent_p.K1706K|TTN_ENST00000342992.6_Silent_p.K1706K			Q8WZ42	TITIN_HUMAN	titin	12535	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTTTTTTCTTGAAAAATG	0.488																																																	0													89.0	81.0	84.0					2																	179641473		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5118G>A	2.37:g.179641473C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K1706	ENST00000591111.1	37	c.5118		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641473	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
TUBA1A	7846	genome.wustl.edu	37	12	49578810	49578810	+	Missense_Mutation	SNP	C	C	T	rs1065730		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49578810C>T	ENST00000295766.5	-	4	1818	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	TUBA1A_ENST00000301071.7_Missense_Mutation_p.E447K|TUBA1A_ENST00000550767.1_Missense_Mutation_p.E412K	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	447			E -> K (in dbSNP:rs1065730).		'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TCCTCTCCTTCTTCCTCACCC	0.443																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												0													177.0	178.0	178.0					12																	49578810		2203	4300	6503	SO:0001583	missense	7846			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1339G>A	12.37:g.49578810C>T	ENSP00000439020:p.Glu447Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E447K	ENST00000295766.5	37	c.1339	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	c	13.98	2.397907	0.42512	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	T;T;T	0.79940	-1.21;-1.21;-1.32	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	D	0.85379	0.5683	M	0.85945	2.785	0.80722	D	1	P	0.34587	0.458	B	0.39152	0.292	D	0.86744	0.1956	10	0.72032	D	0.01	.	18.2109	0.89869	0.0:1.0:0.0:0.0	rs1065730;rs3206700;rs52812432	447	Q71U36	TBA1A_HUMAN	K	447;178;294;447;412	ENSP00000301071:E447K;ENSP00000439020:E447K;ENSP00000446637:E412K	ENSP00000439020:E447K	E	-	1	0	TUBA1A	47865077	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.503000	0.60407	2.581000	0.87130	0.655000	0.94253	GAA	TUBA1A	-	NULL		0.443	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	HGNC	protein_coding	OTTHUMT00000404547.2	C	NM_006009		49578810	-1	no_errors	ENST00000301071	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBA1C	84790	genome.wustl.edu	37	12	49666530	49666530	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49666530G>A	ENST00000301072.6	+	4	1145	c.870G>A	c.(868-870)gaG>gaA	p.E290E	TUBA1C_ENST00000541364.1_Silent_p.E360E|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	290					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CTGTAGCAGAGATCACCAATG	0.542																																																	0													47.0	86.0	73.0					12																	49666530		2203	4300	6503	SO:0001819	synonymous_variant	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.870G>A	12.37:g.49666530G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E290	ENST00000301072.6	37	c.870	CCDS8782.1	12																																																																																			TUBA1C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom		0.542	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	G	NM_032704		49666530	+1	no_errors	ENST00000301072	ensembl	human	known	70_37	silent	SNP	1.000	A
TUBB8	347688	genome.wustl.edu	37	10	94670	94670	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:94670G>A	ENST00000309812.4	-	3	229				TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000332708.5_Intron	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII						microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGCCACCTGCGTGGGGCGGGA	0.701																																					Pancreas(192;2041 3010 9013 18103)												0													14.0	17.0	16.0					10																	94670		2187	4243	6430	SO:0001627	intron_variant	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.167-5C>T	10.37:g.94670G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.T55M	ENST00000309812.4	37	c.164	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274428	0.05679	.	.	ENSG00000173876	ENST00000272035	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	T	0.34861	0.0912	.	.	.	0.23510	N	0.997526	.	.	.	.	.	.	T	0.37888	-0.9686	5	0.87932	D	0	.	2.6667	0.05054	0.4741:0.0:0.5259:0.0	.	.	.	.	M	55	.	ENSP00000272035:T55M	T	-	2	0	RP11-631M21.2	84670	0.086000	0.21541	0.027000	0.17364	0.027000	0.11550	-0.599000	0.05700	0.181000	0.19994	0.184000	0.17185	ACG	TUBB8	-	smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin		0.701	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	HGNC	protein_coding	OTTHUMT00000467795.1	G	NM_177987		94670	-1	no_errors	ENST00000272035	ensembl	human	putative	70_37	missense	SNP	0.488	A
TUBGCP4	27229	genome.wustl.edu	37	15	43687352	43687352	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:43687352G>A	ENST00000260383.7	+	10	1316	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	TUBGCP4_ENST00000564079.1_Silent_p.L354L|TUBGCP4_ENST00000399460.3_Silent_p.L218L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	354					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGGGTCAGCTGAAGGTAATGG	0.433																																																	0													338.0	317.0	324.0					15																	43687352		1976	4154	6130	SO:0001819	synonymous_variant	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1062G>A	15.37:g.43687352G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_Spc97_Spc98	p.L354	ENST00000260383.7	37	c.1062		15																																																																																			TUBGCP4	-	pfam_Spc97_Spc98		0.433	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	G	NM_014444		43687352	+1	no_errors	ENST00000260383	ensembl	human	known	70_37	silent	SNP	0.983	A
TULP1	7287	genome.wustl.edu	37	6	35473852	35473852	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:35473852C>T	ENST00000229771.6	-	10	1006	c.927G>A	c.(925-927)ctG>ctA	p.L309L	TULP1_ENST00000322263.4_Silent_p.L256L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	309					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCCCGGGTCAGCCGGCAGC	0.672																																					GBM(55;1027 1091 11115 23439)												0													58.0	65.0	62.0					6																	35473852		2203	4300	6503	SO:0001819	synonymous_variant	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.927G>A	6.37:g.35473852C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43536|Q5TGM5|Q8N571	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.L309	ENST00000229771.6	37	c.927	CCDS4807.1	6																																																																																			TULP1	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.672	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2	C			35473852	-1	no_errors	ENST00000229771	ensembl	human	known	70_37	silent	SNP	0.924	T
TXNDC17	84817	genome.wustl.edu	37	17	6545058	6545058	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6545058C>G	ENST00000250101.5	+	2	470				TXNDC17_ENST00000570330.1_Intron|KIAA0753_ENST00000572370.1_5'Flank|KIAA0753_ENST00000361413.3_5'Flank|TXNDC17_ENST00000574838.1_Intron|TXNDC17_ENST00000577146.1_Intron	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17						oxidation-reduction process (GO:0055114)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|peroxidase activity (GO:0004601)|protein-disulfide reductase activity (GO:0047134)			endometrium(1)|kidney(1)|ovary(1)	3						TATTTTATCTCAACTTTTTTT	0.433																																																	0													84.0	82.0	83.0					17																	6545058		2203	4300	6503	SO:0001627	intron_variant	84817			BC006405	CCDS11077.1	17p13.2	2007-08-16	2007-08-16	2007-08-16	ENSG00000129235	ENSG00000129235			28218	protein-coding gene	gene with protein product	"""thioredoxin (Trx)-related protein, 14 kDa"""		"""thioredoxin-like 5"""	TXNL5		14607844, 14607843	Standard	NM_032731		Approved	MGC14353, TRP14	uc002gdf.4	Q9BRA2	OTTHUMG00000102053	ENST00000250101.5:c.146-15C>G	17.37:g.6545058C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E8	RNA	SNP	-	NULL	ENST00000250101.5	37	NULL	CCDS11077.1	17																																																																																			TXNDC17	-	-		0.433	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC17	HGNC	protein_coding	OTTHUMT00000219854.2	C	NM_032731		6545058	+1	no_errors	ENST00000571029	ensembl	human	known	70_37	rna	SNP	0.000	G
TXNRD2	10587	genome.wustl.edu	37	22	19906448	19906448	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:19906448C>T	ENST00000400521.1	-	4	315	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TXNRD2_ENST00000542719.1_Silent_p.L73L|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Silent_p.L73L|TXNRD2_ENST00000400519.1_Silent_p.L102L|TXNRD2_ENST00000535882.1_Silent_p.L102L|TXNRD2_ENST00000334363.9_Silent_p.L103L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	103					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCAGGCCTCCCAGCAGTGCCG	0.652																																																	0													39.0	43.0	42.0					22																	19906448		2022	4164	6186	SO:0001819	synonymous_variant	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.309G>A	22.37:g.19906448C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.L102	ENST00000400521.1	37	c.306	CCDS42981.1	22																																																																																			TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.652	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	C	NM_006440		19906448	-1	no_errors	ENST00000535882	ensembl	human	known	70_37	silent	SNP	0.996	T
UACA	55075	genome.wustl.edu	37	15	70960113	70960113	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:70960113C>T	ENST00000322954.6	-	16	3095	c.2910G>A	c.(2908-2910)caG>caA	p.Q970Q	UACA_ENST00000560441.1_Silent_p.Q955Q|UACA_ENST00000379983.2_Silent_p.Q957Q|UACA_ENST00000539319.1_Silent_p.Q861Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	970					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCTCCTTCTTCTGGGCTTTAA	0.423																																																	0													180.0	168.0	172.0					15																	70960113		2199	4298	6497	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2910G>A	15.37:g.70960113C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.Q970	ENST00000322954.6	37	c.2910	CCDS10235.1	15																																																																																			UACA	-	NULL		0.423	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70960113	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	1.000	T
UBA7	7318	genome.wustl.edu	37	3	49848801	49848801	+	Nonsense_Mutation	SNP	C	C	A	rs372779063		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49848801C>A	ENST00000333486.3	-	9	1185	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	343	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTAGGGCCTCAtccagtggc	0.612																																																	0													138.0	107.0	117.0					3																	49848801		2203	4300	6503	SO:0001587	stop_gained	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1027G>T	3.37:g.49848801C>A	ENSP00000333266:p.Glu343*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BRB2	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.E343*	ENST00000333486.3	37	c.1027	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.510187	0.96386	.	.	ENSG00000182179	ENST00000333486	.	.	.	5.76	3.94	0.45596	.	0.049025	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-13.1977	8.764	0.34692	0.1483:0.776:0.0:0.0757	.	.	.	.	X	343	.	ENSP00000333266:E343X	E	-	1	0	UBA7	49823805	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.538000	0.53597	0.760000	0.33108	0.462000	0.41574	GAG	UBA7	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49848801	-1	no_errors	ENST00000333486	ensembl	human	known	70_37	nonsense	SNP	1.000	A
UBAP2	55833	genome.wustl.edu	37	9	33953364	33953364	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:33953364G>A	ENST00000379238.1	-	12	1092	c.975C>T	c.(973-975)ttC>ttT	p.F325F	UBAP2_ENST00000379239.4_Silent_p.F58F|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000360802.1_Silent_p.F325F|UBAP2_ENST00000418786.2_Silent_p.F272F|UBAP2_ENST00000449054.1_Silent_p.F325F|UBAP2_ENST00000539807.1_Silent_p.F80F					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCGAATTTGTGAAGACAAGGG	0.512																																																	0													94.0	94.0	94.0					9																	33953364		2203	4300	6503	SO:0001819	synonymous_variant	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.975C>T	9.37:g.33953364G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.F325	ENST00000379238.1	37	c.975	CCDS6547.1	9																																																																																			UBAP2	-	NULL		0.512	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	G	NM_018449		33953364	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	silent	SNP	1.000	A
UBAP2L	9898	genome.wustl.edu	37	1	154241466	154241466	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154241466C>T	ENST00000361546.2	+	25	3210				UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ttcccttcctcttccttccta	0.547																																																	0													68.0	64.0	65.0					1																	154241466		2203	4300	6503	SO:0001627	intron_variant	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3168+36C>T	1.37:g.154241466C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-		0.547	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154241466	+1	no_errors	ENST00000484819	ensembl	human	known	70_37	rna	SNP	0.991	T
UBE2L6	9246	genome.wustl.edu	37	11	57335082	57335082	+	Start_Codon_SNP	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57335082C>G	ENST00000287156.4	-	1	198	c.3G>C	c.(1-3)atG>atC	p.M1I	UBE2L6_ENST00000340573.4_Intron	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	1					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						TGCTCGCCATCATGTCGGGAC	0.701																																																	0													140.0	94.0	110.0					11																	57335082		2201	4296	6497	SO:0001582	initiator_codon_variant	9246			AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.3G>C	11.37:g.57335082C>G	ENSP00000287156:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.M1I	ENST00000287156.4	37	c.3	CCDS7960.1	11	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025074	0.19433	.	.	ENSG00000156587	ENST00000287156	T	0.40225	1.04	3.69	2.78	0.32641	Ubiquitin-conjugating enzyme/RWD-like (1);	0.495156	0.17095	N	0.187230	T	0.28797	0.0714	.	.	.	0.09310	N	1	P	0.43477	0.808	B	0.35607	0.206	T	0.20306	-1.0279	9	0.87932	D	0	.	7.2465	0.26125	0.0:0.8797:0.0:0.1203	.	1	O14933	UB2L6_HUMAN	I	1	ENSP00000287156:M1I	ENSP00000287156:M1I	M	-	3	0	UBE2L6	57091658	0.966000	0.33281	0.122000	0.21767	0.032000	0.12392	2.831000	0.48144	1.147000	0.42369	0.561000	0.74099	ATG	UBE2L6	-	superfamily_UBQ-conjugating_enzyme/RWD		0.701	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	C	NM_004223	Missense_Mutation	57335082	-1	no_errors	ENST00000287156	ensembl	human	known	70_37	missense	SNP	0.146	G
UBE3D	90025	genome.wustl.edu	37	6	83759489	83759489	+	Intron	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:83759489C>A	ENST00000369747.3	-	3	488					NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										TGTTTCAAATCATCTGAAAAT	0.423																																																	0																																										SO:0001627	intron_variant	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.365+4377G>T	6.37:g.83759489C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Nonstop_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.*123L	ENST00000369747.3	37	c.368	CCDS34491.1	6																																																																																			UBE3D	-	NULL		0.423	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	C	NM_198920		83759489	-1	no_errors	ENST00000430071	ensembl	human	known	70_37	nonstop	SNP	0.000	A
UBQLN1	29979	genome.wustl.edu	37	9	86294834	86294834	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:86294834G>C	ENST00000376395.4	-	4	1090	c.567C>G	c.(565-567)atC>atG	p.I189M	UBQLN1_ENST00000257468.7_Missense_Mutation_p.I189M	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	189					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATTTTCCATGATCTGGACCA	0.428																																					Melanoma(186;1284 2073 12755 14558 18426)												0													182.0	175.0	177.0					9																	86294834		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.567C>G	9.37:g.86294834G>C	ENSP00000365576:p.Ile189Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.I189M	ENST00000376395.4	37	c.567	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596313	0.28445	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	D;D	0.87256	-2.23;-2.23	5.54	2.17	0.27698	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.16833	0.445	0.45194	D	0.998201	B;B	0.32203	0.039;0.36	B;B	0.25614	0.053;0.062	T	0.61715	-0.7006	10	0.02654	T	1	-36.0301	2.6268	0.04932	0.1891:0.115:0.462:0.234	.	189;189	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	M	189	ENSP00000365576:I189M;ENSP00000257468:I189M	ENSP00000257468:I189M	I	-	3	3	UBQLN1	85484654	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.356000	0.20181	0.677000	0.31305	0.650000	0.86243	ATC	UBQLN1	-	smart_STI1_HS-bd		0.428	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86294834	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	missense	SNP	1.000	C
UBR3	130507	genome.wustl.edu	37	2	170917915	170917915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:170917915C>T	ENST00000272793.5	+	35	5031	c.4981C>T	c.(4981-4983)Cag>Tag	p.Q1661*	UBR3_ENST00000418381.1_Nonsense_Mutation_p.Q1661*|UBR3_ENST00000392631.1_Nonsense_Mutation_p.Q482*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1661					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAGCCTTCTTCAGCACCACCT	0.403																																																	0													178.0	177.0	177.0					2																	170917915		2203	4300	6503	SO:0001587	stop_gained	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4981C>T	2.37:g.170917915C>T	ENSP00000272793:p.Gln1661*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Q1661*	ENST00000272793.5	37	c.4981		2	.	.	.	.	.	.	.	.	.	.	C	37	6.529952	0.97641	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	.	.	.	5.92	5.92	0.95590	.	0.097598	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9123	0.97029	0.0:1.0:0.0:0.0	.	.	.	.	X	1661;1690;1661;482;361	.	ENSP00000272793:Q1661X	Q	+	1	0	UBR3	170626161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.733000	0.74796	2.801000	0.96364	0.650000	0.86243	CAG	UBR3	-	NULL		0.403	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	C	NM_172070		170917915	+1	no_errors	ENST00000272793	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19490755	19490755	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:19490755C>T	ENST00000375254.3	-	33	4719	c.4692G>A	c.(4690-4692)ctG>ctA	p.L1564L	UBR4_ENST00000375226.2_Silent_p.L1564L|UBR4_ENST00000375267.2_Silent_p.L1564L|UBR4_ENST00000375217.2_Silent_p.L1564L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1564					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCTGCTCAGCCAATCCA	0.448																																																	0													72.0	61.0	65.0					1																	19490755		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4692G>A	1.37:g.19490755C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1564	ENST00000375254.3	37	c.4692	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19490755	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	T
UGT2B15	7366	genome.wustl.edu	37	4	69519921	69519921	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:69519921C>G	ENST00000338206.5	-	5	1156	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	383					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TAGATCGCCTCATAGATGCCA	0.423																																																	0													189.0	188.0	188.0					4																	69519921		2203	4296	6499	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1147G>C	4.37:g.69519921C>G	ENSP00000341045:p.Glu383Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E383Q	ENST00000338206.5	37	c.1147	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	13.68	2.309176	0.40895	.	.	ENSG00000196620	ENST00000338206	T	0.78246	-1.16	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	D	0.90424	0.7002	H	0.97315	3.98	0.31667	N	0.644833	D	0.76494	0.999	D	0.65773	0.938	D	0.90739	0.4648	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	383	P54855	UDB15_HUMAN	Q	383	ENSP00000341045:E383Q	ENSP00000341045:E383Q	E	-	1	0	UGT2B15	69202516	1.000000	0.71417	0.969000	0.41365	0.126000	0.20510	6.905000	0.75714	1.421000	0.47157	0.455000	0.32223	GAG	UGT2B15	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.423	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69519921	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	1.000	G
UGT8	7368	genome.wustl.edu	37	4	115589440	115589440	+	Silent	SNP	G	G	T	rs145525328		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:115589440G>T	ENST00000310836.6	+	5	1764	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	UGT8_ENST00000394511.3_Silent_p.V414V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	414					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAGCACTAGTGAAGGTTATCA	0.358																																																	0													83.0	82.0	82.0					4																	115589440		2203	4300	6503	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1242G>T	4.37:g.115589440G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V414	ENST00000310836.6	37	c.1242	CCDS3705.1	4																																																																																			UGT8	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.358	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	G	NM_003360		115589440	+1	no_errors	ENST00000310836	ensembl	human	known	70_37	silent	SNP	0.518	T
UHRF1BP1L	23074	genome.wustl.edu	37	12	100451410	100451410	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:100451410C>T	ENST00000279907.7	-	15	3575	c.3363G>A	c.(3361-3363)atG>atA	p.M1121I	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.M771I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1121										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTCCAATATCATGCTGTCAA	0.363																																																	0													121.0	113.0	116.0					12																	100451410		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3363G>A	12.37:g.100451410C>T	ENSP00000279907:p.Met1121Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.M1121I	ENST00000279907.7	37	c.3363	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906658	0.33628	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.17213	2.29;2.29	5.7	5.7	0.88788	.	0.152676	0.64402	D	0.000008	T	0.21145	0.0509	L	0.57536	1.79	0.80722	D	1	B	0.18310	0.027	B	0.21151	0.033	T	0.01198	-1.1421	10	0.39692	T	0.17	-17.3413	15.6572	0.77150	0.0:0.8635:0.1365:0.0	.	1121	A0JNW5	UH1BL_HUMAN	I	1121;771	ENSP00000279907:M1121I;ENSP00000444824:M771I	ENSP00000279907:M1121I	M	-	3	0	UHRF1BP1L	98975541	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	2.423000	0.44705	2.846000	0.97976	0.650000	0.86243	ATG	UHRF1BP1L	-	NULL		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	C	NM_001006947		100451410	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	0.998	T
ULK2	9706	genome.wustl.edu	37	17	19680994	19680994	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19680994C>T	ENST00000395544.4	-	26	3451	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q	ULK2_ENST00000361658.2_Silent_p.Q984Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	984	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TATCTTCGGTCTGCTGAAACA	0.408																																																	0													87.0	81.0	83.0					17																	19680994		2203	4300	6503	SO:0001819	synonymous_variant	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2952G>A	17.37:g.19680994C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY69|O75119	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q984	ENST00000395544.4	37	c.2952	CCDS11213.1	17																																																																																			ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.408	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	C	NM_014683		19680994	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	silent	SNP	1.000	T
ULK2	9706	genome.wustl.edu	37	17	19699456	19699456	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19699456C>T	ENST00000395544.4	-	19	2448	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	ULK2_ENST00000580130.1_5'Flank|ULK2_ENST00000361658.2_Missense_Mutation_p.G650E	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	650					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCTCTCACTTCCTTGCACTAA	0.483																																																	0													114.0	105.0	108.0					17																	19699456		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1949G>A	17.37:g.19699456C>T	ENSP00000378914:p.Gly650Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G650E	ENST00000395544.4	37	c.1949	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874607	0.17395	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.31247	1.5;1.5	6.02	5.06	0.68205	.	0.280456	0.41712	N	0.000833	T	0.30417	0.0764	L	0.57536	1.79	0.37315	D	0.909293	B	0.02656	0.0	B	0.04013	0.001	T	0.18650	-1.0330	10	0.44086	T	0.13	-12.086	11.2296	0.48903	0.0:0.8027:0.1279:0.0695	.	650	Q8IYT8	ULK2_HUMAN	E	650	ENSP00000354877:G650E;ENSP00000378914:G650E	ENSP00000354877:G650E	G	-	2	0	ULK2	19640048	0.971000	0.33674	0.836000	0.33094	0.222000	0.24845	1.590000	0.36654	1.566000	0.49654	0.655000	0.94253	GGA	ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.483	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	C	NM_014683		19699456	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	missense	SNP	0.959	T
UNC93A	54346	genome.wustl.edu	37	6	167728877	167728877	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:167728877C>G	ENST00000230256.3	+	8	1486	c.1311C>G	c.(1309-1311)atC>atG	p.I437M	UNC93A_ENST00000366829.2_Missense_Mutation_p.I395M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	437						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAACCCGATCAGACCCCACG	0.537																																																	0													187.0	202.0	197.0					6																	167728877		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1311C>G	6.37:g.167728877C>G	ENSP00000230256:p.Ile437Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.I437M	ENST00000230256.3	37	c.1311	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	C	5.979	0.364532	0.11296	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.04809	3.55;3.55	3.86	0.876	0.19138	Major facilitator superfamily domain, general substrate transporter (1);	3.677010	0.02413	N	0.081866	T	0.01061	0.0035	N	0.22421	0.69	0.09310	N	1	B;B	0.23990	0.095;0.001	B;B	0.18561	0.022;0.003	T	0.45483	-0.9258	10	0.40728	T	0.16	0.1598	2.2705	0.04089	0.1587:0.3845:0.3122:0.1446	.	395;437	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	437;395	ENSP00000230256:I437M;ENSP00000355794:I395M	ENSP00000230256:I437M	I	+	3	3	UNC93A	167648867	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.307000	0.19296	0.230000	0.21059	-0.371000	0.07208	ATC	UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.537	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	C	NM_018974		167728877	+1	no_errors	ENST00000230256	ensembl	human	known	70_37	missense	SNP	0.000	G
USP11	8237	genome.wustl.edu	37	X	47106748	47106748	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:47106748G>A	ENST00000218348.3	+	19	2595	c.2595G>A	c.(2593-2595)tcG>tcA	p.S865S	USP11_ENST00000377107.2_Silent_p.S822S	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	865	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGAATGAGTCGAATCCGGAGC	0.562																																																	0													70.0	63.0	66.0					X																	47106748		2203	4300	6503	SO:0001819	synonymous_variant	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2595G>A	X.37:g.47106748G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.S865	ENST00000218348.3	37	c.2595	CCDS14277.1	X																																																																																			USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47106748	+1	no_errors	ENST00000218348	ensembl	human	known	70_37	silent	SNP	0.000	A
UPRT	139596	genome.wustl.edu	37	X	74523424	74523424	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:74523424G>A	ENST00000373383.4	+	0	1175				UPRT_ENST00000530743.1_3'UTR|UPRT_ENST00000373379.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)						female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TGATTCACTTGAGGGTGGCAG	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	139596			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.*78G>A	X.37:g.74523424G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	RNA	SNP	-	NULL	ENST00000373383.4	37	NULL	CCDS14429.1	X																																																																																			UPRT	-	-		0.279	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPRT	HGNC	protein_coding	OTTHUMT00000057278.1	G	NM_145052		74523424	+1	no_errors	ENST00000474175	ensembl	human	known	70_37	rna	SNP	0.285	A
USP19	10869	genome.wustl.edu	37	3	49147778	49147778	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49147778C>T	ENST00000398888.2	-	25	3886	c.3568G>A	c.(3568-3570)Gac>Aac	p.D1190N	USP19_ENST00000398896.1_Missense_Mutation_p.D998N|USP19_ENST00000417901.1_Missense_Mutation_p.D1293N|USP19_ENST00000434032.2_Missense_Mutation_p.D1291N|USP19_ENST00000398892.3_Missense_Mutation_p.D1230N|USP19_ENST00000398898.2_Missense_Mutation_p.D1230N|USP19_ENST00000453664.1_Missense_Mutation_p.D1281N	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1190	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGTGCTGTCATCAAACAAG	0.587																																																	0													54.0	60.0	58.0					3																	49147778		2162	4260	6422	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3568G>A	3.37:g.49147778C>T	ENSP00000381863:p.Asp1190Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.D1190N	ENST00000398888.2	37	c.3568	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951761	0.92660	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.93976	0.8071	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.997;1.0	D	0.95612	0.8673	10	0.87932	D	0	-25.3709	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1291;1281;1190;1230;998	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	N	998;1230;1293;1281;1230;1190;1291	ENSP00000381870:D998N;ENSP00000381872:D1230N;ENSP00000395260:D1293N;ENSP00000400090:D1281N;ENSP00000381867:D1230N;ENSP00000381863:D1190N;ENSP00000401197:D1291N	ENSP00000381863:D1190N	D	-	1	0	USP19	49122782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	GAC	USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.587	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49147778	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	T
USP24	23358	genome.wustl.edu	37	1	55680734	55680734	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:55680734G>C	ENST00000294383.6	-	1	52	c.53C>G	c.(52-54)tCa>tGa	p.S18*	USP24_ENST00000407756.1_Nonsense_Mutation_p.S10*|RP11-101C11.1_ENST00000451250.1_lincRNA	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	18	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGCGGGGTCTGAGAAGCCCAT	0.682																																																	0													21.0	28.0	26.0					1																	55680734		2145	4238	6383	SO:0001587	stop_gained	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.53C>G	1.37:g.55680734G>C	ENSP00000294383:p.Ser18*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.S18*	ENST00000294383.6	37	c.53	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	37	6.255507	0.97417	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	2.43	2.43	0.29744	.	0.246709	0.25961	U	0.027198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.7977	0.57567	0.0:0.0:1.0:0.0	.	.	.	.	X	18;10	.	ENSP00000294383:S18X	S	-	2	0	USP24	55453322	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	5.880000	0.69698	1.347000	0.45714	0.305000	0.20034	TCA	USP24	-	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk		0.682	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55680734	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	nonsense	SNP	1.000	C
USP31	57478	genome.wustl.edu	37	16	23116857	23116857	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:23116857G>A	ENST00000219689.7	-	5	993	c.994C>T	c.(994-996)Cac>Tac	p.H332Y		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTCATGCAGTGAGAACATTTG	0.438																																																	0													115.0	93.0	101.0					16																	23116857		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.994C>T	16.37:g.23116857G>A	ENSP00000219689:p.His332Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H332Y	ENST00000219689.7	37	c.994	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885777	0.72410	.	.	ENSG00000103404	ENST00000219689	T	0.08370	3.1	4.69	4.69	0.59074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.122893	0.53938	D	0.000057	T	0.19525	0.0469	L	0.39326	1.205	0.80722	D	1	D	0.60575	0.988	P	0.62382	0.901	T	0.00809	-1.1557	10	0.72032	D	0.01	-13.3742	16.637	0.85061	0.0:0.0:1.0:0.0	.	332	Q70CQ4	UBP31_HUMAN	Y	332	ENSP00000219689:H332Y	ENSP00000219689:H332Y	H	-	1	0	USP31	23024358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.430000	0.80321	2.157000	0.67596	0.655000	0.94253	CAC	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.438	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23116857	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A
USP37	57695	genome.wustl.edu	37	2	219362460	219362460	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:219362460C>G	ENST00000258399.3	-	13	1690	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	USP37_ENST00000415516.1_Missense_Mutation_p.Q354H|USP37_ENST00000418019.1_Missense_Mutation_p.Q426H|USP37_ENST00000454775.1_Missense_Mutation_p.Q426H|RN7SKP38_ENST00000410782.1_RNA	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	426	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TACTCACATTCTGCATATAAC	0.408																																																	0													116.0	117.0	117.0					2																	219362460		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1278G>C	2.37:g.219362460C>G	ENSP00000258399:p.Gln426His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.Q426H	ENST00000258399.3	37	c.1278	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	18.54	3.647031	0.67358	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.48	1.04	0.20106	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.056706	0.64402	D	0.000001	T	0.65698	0.2716	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66264	-0.5967	10	0.87932	D	0	-3.1645	11.033	0.47785	0.0:0.6291:0.0:0.3709	.	354;426	Q86T82-2;Q86T82	.;UBP37_HUMAN	H	426;426;354;426	ENSP00000258399:Q426H;ENSP00000393662:Q426H;ENSP00000400902:Q354H;ENSP00000396585:Q426H	ENSP00000258399:Q426H	Q	-	3	2	USP37	219070704	0.979000	0.34478	1.000000	0.80357	0.986000	0.74619	0.240000	0.18042	0.270000	0.21984	0.551000	0.68910	CAG	USP37	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.408	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935		219362460	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	missense	SNP	0.998	G
USP4	7375	genome.wustl.edu	37	3	49349008	49349008	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49349008G>C	ENST00000265560.4	-	7	821	c.775C>G	c.(775-777)Ctc>Gtc	p.L259V	USP4_ENST00000351842.4_Intron|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	259					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L259V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTGCAATGAGAGAGGCAGAC	0.507																																																	1	Substitution - Missense(1)	cervix(1)											134.0	125.0	128.0					3																	49349008		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.775C>G	3.37:g.49349008G>C	ENSP00000265560:p.Leu259Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L259V	ENST00000265560.4	37	c.775	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.211|8.211	0.800383|0.800383	0.16397|0.16397	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000265560|ENST00000431357	T|T	0.19105|0.25250	2.17|1.81	5.39|5.39	4.52|4.52	0.55395|0.55395	.|.	0.552916|.	0.19648|.	N|.	0.109295|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.10177|0.10177	-1.0641|-1.0641	10|7	0.11485|0.72032	T|D	0.65|0.01	-3.7361|-3.7361	5.3812|5.3812	0.16192|0.16192	0.1668:0.0:0.6712:0.162|0.1668:0.0:0.6712:0.162	.|.	259|.	Q13107|.	UBP4_HUMAN|.	V|C	259|15	ENSP00000265560:L259V|ENSP00000399079:S15C	ENSP00000265560:L259V|ENSP00000399079:S15C	L|S	-|-	1|2	0|0	USP4|USP4	49324012|49324012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.465000|2.465000	0.45075|0.45075	1.272000|1.272000	0.44329|0.44329	0.462000|0.462000	0.41574|0.41574	CTC|TCT	USP4	-	NULL		0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	G	NM_199443		49349008	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	C
USP47	55031	genome.wustl.edu	37	11	11924287	11924287	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:11924287G>C	ENST00000399455.2	+	7	799	c.679G>C	c.(679-681)Gat>Cat	p.D227H	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.D139H|USP47_ENST00000527733.1_Missense_Mutation_p.D207H	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	227	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ATCTGAAGAAGATCCAGTGAC	0.274																																																	0													85.0	78.0	80.0					11																	11924287		1790	4058	5848	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.679G>C	11.37:g.11924287G>C	ENSP00000382382:p.Asp227His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D227H	ENST00000399455.2	37	c.679		11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402474	0.83230	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.30448	1.53;1.53;1.53	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.64080	1.96	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.72982	0.979;0.964	T	0.53308	-0.8457	10	0.52906	T	0.07	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	207;139	E9PM46;Q96K76-2	.;.	H	139;207;227;227	ENSP00000339957:D139H;ENSP00000433146:D207H;ENSP00000382382:D227H	ENSP00000339957:D139H	D	+	1	0	USP47	11880863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.534000	0.85438	0.555000	0.69702	GAT	USP47	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.274	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	G	NM_017944		11924287	+1	no_errors	ENST00000399455	ensembl	human	known	70_37	missense	SNP	1.000	C
USP54	159195	genome.wustl.edu	37	10	75277418	75277418	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75277418G>T	ENST00000339859.4	-	19	2866	c.2766C>A	c.(2764-2766)ttC>ttA	p.F922L	USP54_ENST00000428547.1_Missense_Mutation_p.F772L|USP54_ENST00000408019.1_Missense_Mutation_p.F922L|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.F104L|USP54_ENST00000394811.2_Missense_Mutation_p.F10L|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	922					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTGAATGGAAGAAAGAACTGG	0.512																																					Colon(195;880 2046 8854 25025 38456)												0													57.0	57.0	57.0					10																	75277418		2203	4300	6503	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2766C>A	10.37:g.75277418G>T	ENSP00000345216:p.Phe922Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F922L	ENST00000339859.4	37	c.2766	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045373	0.36085	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.39406	1.69;1.69;1.67;1.08;1.56	5.78	0.633	0.17712	.	0.173317	0.36854	U	0.002377	T	0.29423	0.0733	L	0.49350	1.555	0.58432	D	0.999998	B;B	0.19583	0.037;0.001	B;B	0.19148	0.024;0.002	T	0.06552	-1.0820	10	0.41790	T	0.15	-1.9455	2.7796	0.05357	0.1254:0.2275:0.4123:0.2348	.	104;922	E7EW90;Q70EL1	.;UBP54_HUMAN	L	922;922;772;10;104	ENSP00000345216:F922L;ENSP00000386080:F922L;ENSP00000408714:F772L;ENSP00000378290:F10L;ENSP00000407368:F104L	ENSP00000345216:F922L	F	-	3	2	USP54	74947424	0.998000	0.40836	0.092000	0.20876	0.887000	0.51463	1.804000	0.38873	-0.123000	0.11745	-0.172000	0.13284	TTC	USP54	-	NULL		0.512	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75277418	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	missense	SNP	0.784	T
UTP14C	9724	genome.wustl.edu	37	13	52604690	52604690	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:52604690G>C	ENST00000521776.2	+	2	2483	c.1750G>C	c.(1750-1752)Gat>Cat	p.D584H		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	584					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGAGCTGGAAGATGAAGAGGA	0.473																																																	0													91.0	93.0	92.0					13																	52604690		2203	4300	6503	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1750G>C	13.37:g.52604690G>C	ENSP00000428619:p.Asp584His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.D584H	ENST00000521776.2	37	c.1750	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630417	0.46944	.	.	ENSG00000253797	ENST00000521776	T	0.19806	2.12	2.9	2.9	0.33743	.	0.247869	0.45361	D	0.000379	T	0.48484	0.1502	M	0.88105	2.93	0.47183	D	0.999346	D	0.76494	0.999	D	0.71656	0.974	T	0.57688	-0.7768	9	.	.	.	-17.4577	11.5533	0.50733	0.0:0.0:1.0:0.0	.	584	Q5TAP6	UT14C_HUMAN	H	584	ENSP00000428619:D584H	.	D	+	1	0	UTP14C	51502691	0.224000	0.23674	0.968000	0.41197	0.908000	0.53690	1.038000	0.30254	1.631000	0.50456	0.455000	0.32223	GAT	UTP14C	-	pfam_SSU_processome_Utp14		0.473	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	G	NM_021645		52604690	+1	no_errors	ENST00000521776	ensembl	human	known	70_37	missense	SNP	0.985	C
UTP20	27340	genome.wustl.edu	37	12	101711383	101711383	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:101711383G>C	ENST00000261637.4	+	22	2854	c.2680G>C	c.(2680-2682)Gag>Cag	p.E894Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	894					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTGGAGGAAGAGGCAGTGCC	0.498																																																	0													92.0	87.0	89.0					12																	101711383		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2680G>C	12.37:g.101711383G>C	ENSP00000261637:p.Glu894Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E894Q	ENST00000261637.4	37	c.2680	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958949	0.74016	.	.	ENSG00000120800	ENST00000261637	T	0.20738	2.05	5.36	5.36	0.76844	Armadillo-type fold (1);	0.230244	0.44902	D	0.000408	T	0.20251	0.0487	M	0.65975	2.015	0.49130	D	0.999758	B	0.31227	0.314	B	0.25405	0.06	T	0.03068	-1.1076	10	0.26408	T	0.33	-9.5935	9.0379	0.36300	0.0771:0.1492:0.7737:0.0	.	894	O75691	UTP20_HUMAN	Q	894	ENSP00000261637:E894Q	ENSP00000261637:E894Q	E	+	1	0	UTP20	100235514	1.000000	0.71417	0.764000	0.31436	0.623000	0.37688	4.587000	0.60991	2.518000	0.84900	0.591000	0.81541	GAG	UTP20	-	superfamily_ARM-type_fold		0.498	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101711383	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.895	C
UVRAG	7405	genome.wustl.edu	37	11	75776812	75776812	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:75776812C>T	ENST00000356136.3	+	13	1526	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	UVRAG_ENST00000528420.1_Silent_p.L328L|UVRAG_ENST00000532130.1_Silent_p.L57L|UVRAG_ENST00000533454.1_Silent_p.L57L|UVRAG_ENST00000531818.1_Silent_p.L57L|UVRAG_ENST00000539288.1_Silent_p.L57L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	429					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTCTATCTTCTGAACAAAAA	0.383																																																	0													189.0	182.0	184.0					11																	75776812		2200	4293	6493	SO:0001819	synonymous_variant	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1285C>T	11.37:g.75776812C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTC1|O00392	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L429	ENST00000356136.3	37	c.1285	CCDS8241.1	11																																																																																			UVRAG	-	NULL		0.383	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	C	NM_003369		75776812	+1	no_errors	ENST00000356136	ensembl	human	known	70_37	silent	SNP	1.000	T
VIM	7431	genome.wustl.edu	37	10	17278316	17278316	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:17278316C>T	ENST00000224237.5	+	8	1442	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.L433L			P08670	VIME_HUMAN	vimentin	433	Tail.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.L433M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCACTCCCTCTGGTTGATAC	0.353																																																	1	Substitution - Missense(1)	pancreas(1)											149.0	164.0	159.0					10																	17278316		2203	4300	6503	SO:0001819	synonymous_variant	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1297C>T	10.37:g.17278316C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.L433	ENST00000224237.5	37	c.1297	CCDS7120.1	10																																																																																			VIM	-	NULL		0.353	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	C	NM_003380		17278316	+1	no_errors	ENST00000224237	ensembl	human	known	70_37	silent	SNP	1.000	T
VIT	5212	genome.wustl.edu	37	2	36970381	36970381	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:36970381G>A	ENST00000389975.3	+	4	559	c.257G>A	c.(256-258)tGt>tAt	p.C86Y	VIT_ENST00000379242.3_Missense_Mutation_p.C86Y|VIT_ENST00000401530.1_Missense_Mutation_p.C86Y|VIT_ENST00000457137.2_Missense_Mutation_p.C86Y|VIT_ENST00000404084.1_Missense_Mutation_p.C64Y|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.C86Y	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	86	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCAGTGTGTGTGGCGCTGCC	0.483																																																	0													115.0	97.0	103.0					2																	36970381		2203	4300	6503	SO:0001583	missense	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.257G>A	2.37:g.36970381G>A	ENSP00000374625:p.Cys86Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.C86Y	ENST00000389975.3	37	c.257	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843338	0.51057	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23;-4.23	4.78	4.78	0.61160	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.95151	3.63	0.80722	D	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	0.999;1.0;0.999;1.0;0.999;0.999	D	0.99572	1.0971	10	0.87932	D	0	-11.1013	16.3882	0.83523	0.0:0.0:1.0:0.0	.	86;86;86;86;86;86	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	Y	86;86;86;86;64;86;86	ENSP00000368544:C86Y;ENSP00000374625:C86Y;ENSP00000393561:C86Y;ENSP00000384154:C64Y;ENSP00000368543:C86Y;ENSP00000385658:C86Y	ENSP00000368543:C86Y	C	+	2	0	VIT	36823885	1.000000	0.71417	0.976000	0.42696	0.179000	0.23085	9.112000	0.94314	2.363000	0.80096	0.655000	0.94253	TGT	VIT	-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL		0.483	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		G			36970381	+1	no_errors	ENST00000379242	ensembl	human	known	70_37	missense	SNP	1.000	A
VN1R2	317701	genome.wustl.edu	37	19	53761997	53761997	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:53761997C>G	ENST00000341702.3	+	1	453	c.369C>G	c.(367-369)tcC>tcG	p.S123S		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	123					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCCAAGATCCACAGATTTGA	0.403																																																	0													85.0	90.0	88.0					19																	53761997		2203	4300	6503	SO:0001819	synonymous_variant	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.369C>G	19.37:g.53761997C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L411|Q8TDU4	Silent	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.S123	ENST00000341702.3	37	c.369	CCDS12862.1	19																																																																																			VN1R2	-	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1		0.403	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	C	NM_173856		53761997	+1	no_errors	ENST00000341702	ensembl	human	known	70_37	silent	SNP	0.000	G
VNN2	8875	genome.wustl.edu	37	6	133072503	133072503	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:133072503G>C	ENST00000326499.6	-	5	1105	c.981C>G	c.(979-981)atC>atG	p.I327M	VNN2_ENST00000526192.1_5'Flank|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.I274M|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	327	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.I327I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAAATGGTTTGATGGTGGTGG	0.443																																																	1	Substitution - coding silent(1)	lung(1)											95.0	95.0	95.0					6																	133072503		2203	4300	6503	SO:0001583	missense	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.981C>G	6.37:g.133072503G>C	ENSP00000322276:p.Ile327Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.I327M	ENST00000326499.6	37	c.981	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388191	0.25118	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.87966	-2.32;-2.32	5.42	0.353	0.16058	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.303544	0.26899	N	0.021935	T	0.70928	0.3280	M	0.80982	2.52	0.09310	N	1	P	0.35124	0.485	B	0.35859	0.212	T	0.62053	-0.6935	10	0.22109	T	0.4	.	3.1322	0.06428	0.1309:0.1111:0.3023:0.4557	.	327	O95498	VNN2_HUMAN	M	327;274	ENSP00000322276:I327M;ENSP00000436822:I274M	ENSP00000322276:I327M	I	-	3	3	VNN2	133114196	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.441000	0.02409	-0.157000	0.11059	0.650000	0.86243	ATC	VNN2	-	pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.443	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	G			133072503	-1	no_errors	ENST00000326499	ensembl	human	known	70_37	missense	SNP	0.000	C
VPS13B	157680	genome.wustl.edu	37	8	100533164	100533164	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:100533164G>C	ENST00000358544.2	+	30	4857	c.4746G>C	c.(4744-4746)aaG>aaC	p.K1582N	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1557N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1582					protein transport (GO:0015031)			p.K1582N(1)|p.K1557N(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTTTTGAAGATTGGCTCTG	0.408																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	lung(2)											146.0	132.0	137.0					8																	100533164		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4746G>C	8.37:g.100533164G>C	ENSP00000351346:p.Lys1582Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.K1582N	ENST00000358544.2	37	c.4746	CCDS6280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.939229|2.939229	0.52972|0.52972	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000357162;ENST00000358544|ENST00000521559	T;T|.	0.70516|.	-0.49;-0.48|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|.	0.061993|.	0.64402|.	D|.	0.000010|.	T|T	0.62950|0.62950	0.2470|0.2470	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.59357|.	0.856;0.722|.	T|T	0.61836|0.61836	-0.6981|-0.6981	10|5	0.72032|.	D|.	0.01|.	.|.	9.3699|9.3699	0.38248|0.38248	0.2175:0.0:0.7825:0.0|0.2175:0.0:0.7825:0.0	.|.	1557;1582|.	Q7Z7G8-2;Q7Z7G8|.	.;VP13B_HUMAN|.	N|T	1557;1582|13	ENSP00000349685:K1557N;ENSP00000351346:K1582N|.	ENSP00000349685:K1557N|.	K|R	+|+	3|2	2|0	VPS13B|VPS13B	100602340|100602340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.528000|3.528000	0.53524|0.53524	1.336000|1.336000	0.45506|0.45506	0.557000|0.557000	0.71058|0.71058	AAG|AGA	VPS13B	-	NULL		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100533164	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS45	11311	genome.wustl.edu	37	1	150040827	150040827	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:150040827G>A	ENST00000369130.3	+	2	774				VPS45_ENST00000535106.1_Intron|VPS45_ENST00000369128.5_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGGTACTGCATAAACTGA	0.388																																																	0													103.0	88.0	93.0					1																	150040827		2203	4300	6503	SO:0001627	intron_variant	11311			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.228+6G>A	1.37:g.150040827G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	RNA	SNP	-	NULL	ENST00000369130.3	37	NULL	CCDS944.1	1																																																																																			VPS45	-	-		0.388	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	G	NM_007259		150040827	+1	no_errors	ENST00000478999	ensembl	human	known	70_37	rna	SNP	0.012	A
VPS53	55275	genome.wustl.edu	37	17	600665	600666	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:600665_600666CC>GT	ENST00000571805.1	-	4	413_414	c.277_278GG>AC	c.(277-279)GGa>ACa	p.G93T	VPS53_ENST00000401468.3_Missense_Mutation_p.G93T|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.G93T|VPS53_ENST00000291074.5_Missense_Mutation_p.G93T			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	93					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTTGCCGTCCATCCTGCCCC	0.465																																																	0																																										SO:0001583	missense	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.277_278delinsGT	17.37:g.600665_600666delinsGT	ENSP00000459312:p.Gly93Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.G93A|p.G93R	ENST00000571805.1	37	c.278|c.277		17																																																																																			VPS53	-	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54		0.465	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	C	NM_018289		600665|600666	-1	no_errors	ENST00000437048	ensembl	human	known	70_37	missense	SNP	1.000	G|T
VPS8	23355	genome.wustl.edu	37	3	184573498	184573498	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184573498G>C	ENST00000437079.3	+	14	1206		c.e14-1		VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000436792.2_Splice_Site|VPS8_ENST00000287546.4_Splice_Site	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)								zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCCTACTTAGATGGATCCTT	0.408																																																	0													164.0	154.0	157.0					3																	184573498		1883	4106	5989	SO:0001630	splice_region_variant	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1036-1G>C	3.37:g.184573498G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Splice_Site	SNP	-	e12-1	ENST00000437079.3	37	c.1036-1	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529928	0.64860	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8505	0.88746	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS8	186056192	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.556000	0.98127	2.443000	0.82685	0.650000	0.86243	.	VPS8	-	-		0.408	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		G	NM_015303	Intron	184573498	+1	no_errors	ENST00000287546	ensembl	human	known	70_37	splice_site	SNP	1.000	C
VRTN	55237	genome.wustl.edu	37	14	74823763	74823763	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:74823763C>G	ENST00000256362.4	+	2	518	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	93					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCAGCATGCTGCTGTGGGG	0.647																																																	0													49.0	45.0	46.0					14																	74823763		2203	4299	6502	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.277C>G	14.37:g.74823763C>G	ENSP00000256362:p.Leu93Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.L93V	ENST00000256362.4	37	c.277	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107610	0.56291	.	.	ENSG00000133980	ENST00000256362	T	0.45276	0.9	4.91	1.87	0.25490	.	0.000000	0.52532	D	0.000072	T	0.45377	0.1339	N	0.24115	0.695	0.38904	D	0.95739	D	0.76494	0.999	D	0.80764	0.994	T	0.47935	-0.9078	10	0.87932	D	0	-3.6468	9.2036	0.37275	0.0:0.7378:0.0:0.2622	.	93	Q9H8Y1	VRTN_HUMAN	V	93	ENSP00000256362:L93V	ENSP00000256362:L93V	L	+	1	2	VRTN	73893516	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.063000	0.41423	0.663000	0.31027	0.561000	0.74099	CTG	VRTN	-	NULL		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	C	NM_018228		74823763	+1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	1.000	G
VSIG1	340547	genome.wustl.edu	37	X	107304672	107304672	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:107304672C>T	ENST00000217957.5	+	2	330				VSIG1_ENST00000415430.3_Silent_p.L76L	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTCGTGCCTCAGTACTGAGG	0.493																																																	0													88.0	73.0	77.0					X																	107304672		692	1591	2283	SO:0001627	intron_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.213+3241C>T	X.37:g.107304672C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L76	ENST00000217957.5	37	c.228	CCDS14535.1	X																																																																																			VSIG1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.493	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	C	NM_182607		107304672	+1	no_errors	ENST00000415430	ensembl	human	known	70_37	silent	SNP	0.997	T
VSTM1	284415	genome.wustl.edu	37	19	54561966	54561966	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:54561966C>T	ENST00000338372.2	-	2	230	c.55G>A	c.(55-57)Gat>Aat	p.D19N	VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000425006.2_Missense_Mutation_p.D19N|VSTM1_ENST00000376626.1_Missense_Mutation_p.D19N	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	19					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTTTTCTCATCTTCGTAGCCC	0.403																																																	0													107.0	110.0	109.0					19																	54561966		2203	4300	6503	SO:0001583	missense	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.55G>A	19.37:g.54561966C>T	ENSP00000343366:p.Asp19Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.D19N	ENST00000338372.2	37	c.55	CCDS12872.1	19	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072830	0.55646	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.00543	6.9;6.68;6.7	3.04	3.04	0.35103	.	0.240961	0.21458	N	0.074215	T	0.01029	0.0034	L	0.48642	1.525	0.09310	N	1	D;D	0.76494	0.999;0.997	D;P	0.63381	0.914;0.878	T	0.59408	-0.7460	10	0.21540	T	0.41	-6.9641	9.778	0.40632	0.0:1.0:0.0:0.0	.	19;19	D2DJS4;Q6UX27	.;VSTM1_HUMAN	N	19	ENSP00000343366:D19N;ENSP00000365813:D19N;ENSP00000413006:D19N	ENSP00000343366:D19N	D	-	1	0	VSTM1	59253778	0.003000	0.15002	0.029000	0.17559	0.276000	0.26787	0.834000	0.27518	1.976000	0.57569	0.467000	0.42956	GAT	VSTM1	-	NULL		0.403	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3	C	NM_198481		54561966	-1	no_errors	ENST00000338372	ensembl	human	known	70_37	missense	SNP	0.041	T
VWA3B	200403	genome.wustl.edu	37	2	98737818	98737818	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98737818C>G	ENST00000477737.1	+	5	803	c.599C>G	c.(598-600)tCc>tGc	p.S200C	VWA3B_ENST00000451075.2_Missense_Mutation_p.S50C|VWA3B_ENST00000435344.1_Missense_Mutation_p.S200C	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	200										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCGAACAGTCCATAGCTACT	0.547																																																	0													90.0	96.0	94.0					2																	98737818		2004	4184	6188	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.599C>G	2.37:g.98737818C>G	ENSP00000417955:p.Ser200Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S200C	ENST00000477737.1	37	c.599	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038435	0.19669	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.16743	2.99;2.99;2.32	5.33	4.4	0.53042	.	0.193413	0.37095	N	0.002256	T	0.24774	0.0601	M	0.67953	2.075	0.09310	N	0.999998	B;B;B	0.34015	0.131;0.414;0.435	B;B;B	0.38378	0.057;0.272;0.178	T	0.18366	-1.0339	10	0.87932	D	0	.	14.8884	0.70587	0.1434:0.8566:0.0:0.0	.	50;200;200	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	C	200;200;50	ENSP00000401959:S200C;ENSP00000417955:S200C;ENSP00000389463:S50C	ENSP00000411168:S200C	S	+	2	0	VWA3B	98104250	0.322000	0.24634	0.098000	0.21074	0.086000	0.17979	1.440000	0.35024	2.669000	0.90835	0.655000	0.94253	TCC	VWA3B	-	NULL		0.547	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	C	NM_144992		98737818	+1	no_errors	ENST00000477737	ensembl	human	known	70_37	missense	SNP	0.327	G
VWA5B1	127731	genome.wustl.edu	37	1	20674846	20674846	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20674846G>A	ENST00000375079.2	+	18	3066	c.2870G>A	c.(2869-2871)gGa>gAa	p.G957E	VWA5B1_ENST00000289815.8_Missense_Mutation_p.G957E|VWA5B1_ENST00000375083.4_Missense_Mutation_p.G957E|VWA5B1_ENST00000525343.1_3'UTR	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	957						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						TCGGCACCAGGAAATGGTAAA	0.607																																																	0													32.0	37.0	35.0					1																	20674846		692	1591	2283	SO:0001583	missense	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.2870G>A	1.37:g.20674846G>A	ENSP00000364220:p.Gly957Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G957E	ENST00000375079.2	37	c.2870		1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757835	0.31137	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000375079	T;T;T	0.04083	3.86;3.71;3.97	3.75	2.83	0.33086	.	0.645519	0.14443	N	0.319248	T	0.06462	0.0166	N	0.11560	0.145	0.51767	D	0.999935	P;D;D	0.89917	0.907;0.999;1.0	B;D;D	0.97110	0.366;0.959;1.0	T	0.52801	-0.8527	10	0.12766	T	0.61	.	7.0654	0.25149	0.1232:0.0:0.8768:0.0	.	957;958;958	Q5TIE3;Q5TIE3-5;Q5TIE3-2	VW5B1_HUMAN;.;.	E	957	ENSP00000289815:G957E;ENSP00000364224:G957E;ENSP00000364220:G957E	ENSP00000289815:G957E	G	+	2	0	VWA5B1	20547433	0.351000	0.24887	0.598000	0.28837	0.023000	0.10783	1.503000	0.35715	1.163000	0.42636	0.551000	0.68910	GGA	VWA5B1	-	NULL		0.607	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	G	XM_001722222		20674846	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	missense	SNP	0.647	A
WBP1	23559	genome.wustl.edu	37	2	74685760	74685760	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:74685760G>C	ENST00000233615.2	+	1	305	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	WBP1_ENST00000409737.1_Missense_Mutation_p.E11Q|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Missense_Mutation_p.E11Q	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	11							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GAACGGCAGCGAGGAGGCCTG	0.647																																																	0													14.0	15.0	15.0					2																	74685760		2168	4240	6408	SO:0001583	missense	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.31G>C	2.37:g.74685760G>C	ENSP00000233615:p.Glu11Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE02|O95637	Missense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.E11Q	ENST00000233615.2	37	c.31	CCDS1943.1	2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890314	0.52014	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737	.	.	.	5.14	4.23	0.50019	.	.	.	.	.	T	0.29817	0.0745	N	0.19112	0.55	0.27043	N	0.963979	B;B	0.32203	0.36;0.36	B;B	0.33846	0.119;0.171	T	0.13361	-1.0512	8	0.48119	T	0.1	-9.1503	10.7168	0.46017	0.0:0.2084:0.7916:0.0	.	11;11	B8ZZ95;Q96G27	.;WBP1_HUMAN	Q	11	.	ENSP00000233615:E11Q	E	+	1	0	WBP1	74539268	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.823000	0.48081	2.676000	0.91093	0.561000	0.74099	GAG	WBP1	-	NULL		0.647	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	G	NM_012477		74685760	+1	no_errors	ENST00000233615	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR13	64743	genome.wustl.edu	37	X	48456174	48456174	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48456174G>A	ENST00000218056.5	+	0	295				WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Intron	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCACCCGGGCGCTGCCCAGGA	0.632																																																	0																																												64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119		X.37:g.48456174G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	RNA	SNP	-	NULL	ENST00000218056.5	37	NULL	CCDS14302.1	X																																																																																			WDR13	-	-		0.632	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	G			48456174	+1	no_errors	ENST00000486125	ensembl	human	known	70_37	rna	SNP	0.001	A
WDR18	57418	genome.wustl.edu	37	19	991247	991247	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:991247C>T	ENST00000251289.5	+	7	850	c.827C>T	c.(826-828)tCa>tTa	p.S276L	WDR18_ENST00000587001.2_Missense_Mutation_p.S276L	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	276					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ACTTGCCTGTCAGTGTCCACT	0.672																																																	0													47.0	32.0	37.0					19																	991247		2180	4279	6459	SO:0001583	missense	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.827C>T	19.37:g.991247C>T	ENSP00000251289:p.Ser276Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S276L	ENST00000251289.5	37	c.827	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620408	0.66787	.	.	ENSG00000065268	ENST00000251289	T	0.62364	0.03	3.72	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065356	0.64402	D	0.000005	T	0.74831	0.3768	M	0.69358	2.11	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	T	0.76206	-0.3044	10	0.72032	D	0.01	.	11.8783	0.52560	0.0:0.822:0.178:0.0	.	276	Q9BV38	WDR18_HUMAN	L	276	ENSP00000251289:S276L	ENSP00000251289:S276L	S	+	2	0	WDR18	942247	1.000000	0.71417	0.465000	0.27155	0.336000	0.28762	7.343000	0.79319	0.711000	0.32018	0.591000	0.81541	TCA	WDR18	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.672	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	HGNC	protein_coding	OTTHUMT00000458225.2	C			991247	+1	no_errors	ENST00000251289	ensembl	human	known	70_37	missense	SNP	0.995	T
WDR33	55339	genome.wustl.edu	37	2	128481925	128481925	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:128481925C>T	ENST00000322313.4	-	11	1336	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	393					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTCATTTGAGCCTGAGCAGAG	0.418																																																	0													107.0	99.0	102.0					2																	128481925		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1178G>A	2.37:g.128481925C>T	ENSP00000325377:p.Gly393Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G393D	ENST00000322313.4	37	c.1178	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262842	0.80358	.	.	ENSG00000136709	ENST00000322313	T	0.72167	-0.63	5.52	5.52	0.82312	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	D	0.88930	0.6571	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91125	0.4933	10	0.87932	D	0	-6.8946	19.8024	0.96513	0.0:1.0:0.0:0.0	.	393	Q9C0J8	WDR33_HUMAN	D	393	ENSP00000325377:G393D	ENSP00000325377:G393D	G	-	2	0	WDR33	128198395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.752000	0.94435	0.655000	0.94253	GGC	WDR33	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128481925	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR44	54521	genome.wustl.edu	37	X	117528026	117528026	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117528026G>C	ENST00000254029.3	+	5	1230	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	WDR44_ENST00000371825.3_Missense_Mutation_p.E279Q|WDR44_ENST00000371822.5_Missense_Mutation_p.E254Q	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	279						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTTCCCAAAGAGAATATTAC	0.393																																																	0													92.0	82.0	85.0					X																	117528026		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.835G>C	X.37:g.117528026G>C	ENSP00000254029:p.Glu279Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E279Q	ENST00000254029.3	37	c.835	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968626|3.968626	0.74131|0.74131	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.73897|.	-0.79;-0.19;-0.07|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.361255|.	0.31257|.	N|.	0.007964|.	T|T	0.53318|0.53318	0.1789|0.1789	N|N	0.19112|0.19112	0.55|0.55	0.44539|0.44539	D|D	0.997497|0.997497	B;P;P|.	0.40578|.	0.097;0.515;0.722|.	B;B;B|.	0.39876|.	0.079;0.23;0.312|.	T|T	0.49588|0.49588	-0.8924|-0.8924	10|5	0.42905|.	T|.	0.14|.	-13.8677|-13.8677	18.2594|18.2594	0.90030|0.90030	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254;279;279|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	Q|T	254;279;279|178	ENSP00000360887:E254Q;ENSP00000254029:E279Q;ENSP00000360890:E279Q|.	ENSP00000254029:E279Q|.	E|R	+|+	1|2	0|0	WDR44|WDR44	117412054|117412054	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	7.141000|7.141000	0.77330|0.77330	2.250000|2.250000	0.74265|0.74265	0.600000|0.600000	0.82982|0.82982	GAG|AGA	WDR44	-	NULL		0.393	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	G	NM_019045		117528026	+1	no_errors	ENST00000254029	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR44	54521	genome.wustl.edu	37	X	117532408	117532408	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117532408G>A	ENST00000254029.3	+	8	1644	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	WDR44_ENST00000371825.3_Missense_Mutation_p.D417N|WDR44_ENST00000371822.5_Missense_Mutation_p.D392N	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	417						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACAGATACTGATGGTGGAAG	0.348																																																	0													145.0	125.0	132.0					X																	117532408		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1249G>A	X.37:g.117532408G>A	ENSP00000254029:p.Asp417Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D417N	ENST00000254029.3	37	c.1249	CCDS14572.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.472614	0.96274	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.75477	-0.94;-0.34;-0.21	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.76494	0.998;0.986;0.999;0.996	D;P;D;D	0.71184	0.962;0.835;0.972;0.954	T	0.83188	-0.0085	10	0.72032	D	0.01	-16.7344	18.0906	0.89474	0.0:0.0:1.0:0.0	.	392;417;417;417	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	N	392;417;417	ENSP00000360887:D392N;ENSP00000254029:D417N;ENSP00000360890:D417N	ENSP00000254029:D417N	D	+	1	0	WDR44	117416436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.569000	0.98170	2.495000	0.84180	0.600000	0.82982	GAT	WDR44	-	NULL		0.348	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	G	NM_019045		117532408	+1	no_errors	ENST00000254029	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR5B	54554	genome.wustl.edu	37	3	122134139	122134139	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:122134139G>C	ENST00000330689.4	-	1	743	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	79										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TATGACCATAGAGTGTTTTCT	0.378																																																	0													132.0	135.0	134.0					3																	122134139		2203	4300	6503	SO:0001819	synonymous_variant	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.237C>G	3.37:g.122134139G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCM9|Q9NUL4	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L79	ENST00000330689.4	37	c.237	CCDS3012.1	3																																																																																			WDR5B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5B	HGNC	protein_coding	OTTHUMT00000355753.1	G	NM_019069		122134139	-1	no_errors	ENST00000330689	ensembl	human	known	70_37	silent	SNP	0.005	C
WDR62	284403	genome.wustl.edu	37	19	36594670	36594670	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36594670G>A	ENST00000270301.7	+	30	3925	c.3925G>A	c.(3925-3927)Gat>Aat	p.D1309N	WDR62_ENST00000401500.2_Missense_Mutation_p.D1314N			O43379	WDR62_HUMAN	WD repeat domain 62	1309					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCCCGTGGATACCCAGCC	0.672																																																	0													71.0	61.0	65.0					19																	36594670		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3925G>A	19.37:g.36594670G>A	ENSP00000270301:p.Asp1309Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1314N	ENST00000270301.7	37	c.3940	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922266	0.17982	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.44881	1.0;0.91	5.06	2.91	0.33838	.	0.903898	0.09516	N	0.791611	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.22208	-1.0223	10	0.49607	T	0.09	-1.9651	7.6986	0.28608	0.1904:0.0:0.8096:0.0	.	1314;1309	O43379-4;O43379	.;WDR62_HUMAN	N	1314;1309	ENSP00000384792:D1314N;ENSP00000270301:D1309N	ENSP00000270301:D1309N	D	+	1	0	WDR62	41286510	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.168000	0.31859	0.721000	0.32231	0.555000	0.69702	GAT	WDR62	-	NULL		0.672	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	G	NM_015671		36594670	+1	no_errors	ENST00000401500	ensembl	human	known	70_37	missense	SNP	0.001	A
WDR64	128025	genome.wustl.edu	37	1	241920750	241920750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:241920750C>T	ENST00000366552.2	+	14	2113	c.1906C>T	c.(1906-1908)Caa>Taa	p.Q636*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.Q636*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	636										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAACTTTTCTCAACCTACTGA	0.348																																																	0													147.0	137.0	140.0					1																	241920750		2203	4300	6503	SO:0001587	stop_gained	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1906C>T	1.37:g.241920750C>T	ENSP00000355510:p.Gln636*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q636*	ENST00000366552.2	37	c.1906		1	.	.	.	.	.	.	.	.	.	.	C	37	6.376383	0.97515	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	.	.	.	4.99	3.03	0.35002	.	1.911430	0.02156	N	0.058380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	0.2199	7.7291	0.28777	0.0:0.6236:0.2874:0.089	.	.	.	.	X	636;636;407	.	ENSP00000355510:Q636X	Q	+	1	0	WDR64	239987373	0.882000	0.30256	0.058000	0.19502	0.003000	0.03518	1.409000	0.34680	1.075000	0.40932	-0.157000	0.13467	CAA	WDR64	-	superfamily_WD40_repeat_dom		0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		C	NM_144625		241920750	+1	no_errors	ENST00000366552	ensembl	human	known	70_37	nonsense	SNP	0.138	T
WDR81	124997	genome.wustl.edu	37	17	1629280	1629280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1629280G>T	ENST00000409644.1	+	1	1027	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	343	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)		CACTGGCCAGGAGGAACTTCG	0.627																																																	0													59.0	58.0	58.0					17																	1629280		692	1590	2282	SO:0001587	stop_gained	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.1027G>T	17.37:g.1629280G>T	ENSP00000386609:p.Glu343*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Nonsense_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.E343*	ENST00000409644.1	37	c.1027	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369114	0.61624	.	.	ENSG00000167716	ENST00000409644	.	.	.	5.93	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	4.6917	0.12785	0.3312:0.279:0.3898:0.0	.	.	.	.	X	343	.	ENSP00000386609:E343X	E	+	1	0	WDR81	1576030	0.973000	0.33851	0.974000	0.42286	0.031000	0.12232	0.877000	0.28106	0.374000	0.24650	0.563000	0.77884	GAG	WDR81	-	pfscan_BEACH_dom		0.627	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629280	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	nonsense	SNP	0.949	T
WDR81	124997	genome.wustl.edu	37	17	1629456	1629456	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1629456G>A	ENST00000409644.1	+	1	1203	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	401	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)		ACCTGCGCAAGTCCAAGTTCC	0.657																																																	0													33.0	37.0	36.0					17																	1629456		692	1590	2282	SO:0001819	synonymous_variant	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.1203G>A	17.37:g.1629456G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	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.K401	ENST00000409644.1	37	c.1203	CCDS54062.1	17																																																																																			WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629456	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1629718	1629718	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1629718G>A	ENST00000409644.1	+	1	1465	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	489	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)		CTGGACCCCGGATGAGTGCAT	0.647																																																	0													22.0	26.0	25.0					17																	1629718		692	1585	2277	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.1465G>A	17.37:g.1629718G>A	ENSP00000386609:p.Asp489Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	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.D489N	ENST00000409644.1	37	c.1465	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031142	0.75504	.	.	ENSG00000167716	ENST00000409644	T	0.80480	-1.38	5.4	5.4	0.78164	.	.	.	.	.	D	0.89181	0.6642	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90135	0.4209	6	0.72032	D	0.01	.	19.1633	0.93543	0.0:0.0:1.0:0.0	.	.	.	.	N	489	ENSP00000386609:D489N	ENSP00000386609:D489N	D	+	1	0	WDR81	1576468	1.000000	0.71417	0.629000	0.29254	0.388000	0.30384	9.765000	0.98953	2.530000	0.85305	0.462000	0.41574	GAT	WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629718	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1634540	1634540	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1634540C>T	ENST00000409644.1	+	4	4145	c.4145C>T	c.(4144-4146)tCc>tTc	p.S1382F	WDR81_ENST00000446363.1_Missense_Mutation_p.S21F|WDR81_ENST00000309182.5_Missense_Mutation_p.S331F|WDR81_ENST00000437219.2_Missense_Mutation_p.S179F|WDR81_ENST00000545662.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.S155F	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1382					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)		TTCCTCACCTCCCTCGTCACG	0.642																																																	0													62.0	49.0	53.0					17																	1634540		2203	4300	6503	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.4145C>T	17.37:g.1634540C>T	ENSP00000386609:p.Ser1382Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	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.S1382F	ENST00000409644.1	37	c.4145	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.240912	0.95272	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T;T	0.62639	2.1;2.08;0.01;2.11;0.36	5.82	5.82	0.92795	.	0.116385	0.64402	D	0.000012	T	0.78246	0.4253	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.991;0.998;0.999	P;D;D	0.64042	0.77;0.915;0.921	T	0.79533	-0.1764	10	0.87932	D	0	.	19.0936	0.93240	0.0:1.0:0.0:0.0	.	179;509;331	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	F	179;331;21;155;1382;133	ENSP00000391074:S179F;ENSP00000312074:S331F;ENSP00000401560:S21F;ENSP00000407845:S155F;ENSP00000386609:S1382F	ENSP00000312074:S331F	S	+	2	0	WDR81	1581290	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	7.500000	0.81588	2.757000	0.94681	0.655000	0.94253	TCC	WDR81	-	NULL		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1634540	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR87	83889	genome.wustl.edu	37	19	38377815	38377815	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:38377815C>T	ENST00000303868.5	-	6	6603	c.6379G>A	c.(6379-6381)Gaa>Aaa	p.E2127K	WDR87_ENST00000447313.2_Missense_Mutation_p.E2166K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2127	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GATCGTTTTTCAGAAAAATCC	0.368																																																	0													110.0	78.0	87.0					19																	38377815		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6379G>A	19.37:g.38377815C>T	ENSP00000368025:p.Glu2127Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2166K	ENST00000303868.5	37	c.6496	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124410	0.37533	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.45276	0.9;0.9	4.52	-1.7	0.08159	.	.	.	.	.	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.09377	0.004;0.004	T	0.20638	-1.0269	9	0.23302	T	0.38	.	4.8705	0.13629	0.0:0.2882:0.1868:0.525	.	2127;2166	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	K	2166;2127	ENSP00000405012:E2166K;ENSP00000368025:E2127K	ENSP00000368025:E2127K	E	-	1	0	WDR87	43069655	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.794000	0.04584	-0.075000	0.12798	-0.344000	0.07964	GAA	WDR87	-	superfamily_ARM-type_fold		0.368	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	C	XM_940478		38377815	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	missense	SNP	0.000	T
WEE2	494551	genome.wustl.edu	37	7	141429462	141429462	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:141429462C>T	ENST00000397541.2	+	11	2073	c.1667C>T	c.(1666-1668)tCa>tTa	p.S556L	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	556					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCAAGGTCTTCAAGCTTTACC	0.542																																																	0													78.0	76.0	76.0					7																	141429462		1880	4117	5997	SO:0001583	missense	494551			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1667C>T	7.37:g.141429462C>T	ENSP00000380675:p.Ser556Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.S556L	ENST00000397541.2	37	c.1667	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	C	7.620	0.676666	0.14841	.	.	ENSG00000214102	ENST00000397541	T	0.53423	0.62	5.53	2.6	0.31112	.	0.811739	0.10694	U	0.644800	T	0.26195	0.0639	N	0.26042	0.785	0.24286	N	0.995184	B	0.06786	0.001	B	0.06405	0.002	T	0.29458	-1.0011	10	0.07813	T	0.8	.	2.4826	0.04591	0.2142:0.4474:0.0:0.3384	.	556	P0C1S8	WEE2_HUMAN	L	556	ENSP00000380675:S556L	ENSP00000380675:S556L	S	+	2	0	WEE2	141075931	0.152000	0.22762	0.999000	0.59377	0.997000	0.91878	0.953000	0.29162	1.474000	0.48178	0.655000	0.94253	TCA	WEE2	-	pirsf_Wee1-like_protein_kinase		0.542	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	C	NM_001105558		141429462	+1	no_errors	ENST00000397541	ensembl	human	known	70_37	missense	SNP	0.975	T
WFIKKN1	117166	genome.wustl.edu	37	16	682597	682597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:682597G>T	ENST00000319070.2	+	2	509	c.187G>T	c.(187-189)Gag>Tag	p.E63*		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	63	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				TGCGGCTGCTGAGAAGTGCTG	0.701																																																	0													22.0	24.0	23.0					16																	682597		2175	4292	6467	SO:0001587	stop_gained	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.187G>T	16.37:g.682597G>T	ENSP00000324763:p.Glu63*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LDW0|Q8NBQ1|Q96S20	Nonsense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E63*	ENST00000319070.2	37	c.187	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	38	6.776868	0.97829	.	.	ENSG00000127578	ENST00000319070	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.7221	0.77721	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000324763:E63X	E	+	1	0	WFIKKN1	622598	1.000000	0.71417	0.780000	0.31762	0.844000	0.47949	9.356000	0.97091	2.293000	0.77203	0.486000	0.48141	GAG	WFIKKN1	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core		0.701	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	G	NM_053284		682597	+1	no_errors	ENST00000319070	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WFIKKN1	117166	genome.wustl.edu	37	16	683146	683146	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:683146G>A	ENST00000319070.2	+	2	1058	c.736G>A	c.(736-738)Ggg>Agg	p.G246R		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	246	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CACCAGCATCGGGCAGCTGGT	0.652																																																	0													26.0	27.0	27.0					16																	683146		2187	4285	6472	SO:0001583	missense	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.736G>A	16.37:g.683146G>A	ENSP00000324763:p.Gly246Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.G246R	ENST00000319070.2	37	c.736	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	29.6	5.016636	0.93404	.	.	ENSG00000127578	ENST00000319070	T	0.66638	-0.22	4.7	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057094	0.64402	D	0.000001	D	0.83394	0.5245	M	0.85197	2.74	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	D	0.86805	0.1994	10	0.87932	D	0	.	16.2106	0.82151	0.0:0.0:1.0:0.0	.	246	Q96NZ8	WFKN1_HUMAN	R	246	ENSP00000324763:G246R	ENSP00000324763:G246R	G	+	1	0	WFIKKN1	623147	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.314000	0.72848	2.164000	0.68074	0.556000	0.70494	GGG	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	G	NM_053284		683146	+1	no_errors	ENST00000319070	ensembl	human	known	70_37	missense	SNP	1.000	A
WHAMMP2	440253	genome.wustl.edu	37	15	28991241	28991241	+	RNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:28991241C>T	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		CTCTGCAACTCATGAGAGCGA	0.393																																																	0																																												440253			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28991241C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-		0.393	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	C	NR_026589		28991241	+1	no_errors	ENST00000508764	ensembl	human	putative	70_37	rna	SNP	1.000	T
WHAMM	123720	genome.wustl.edu	37	15	83499708	83499708	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:83499708C>G	ENST00000286760.4	+	9	2098	c.1999C>G	c.(1999-2001)Caa>Gaa	p.Q667E		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	667	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CTCATCCTCTCAAGCTGCAAC	0.612																																																	0													39.0	41.0	41.0					15																	83499708		2050	4193	6243	SO:0001583	missense	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1999C>G	15.37:g.83499708C>G	ENSP00000286760:p.Gln667Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.Q667E	ENST00000286760.4	37	c.1999	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100184	0.08731	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.38722	1.12	4.26	3.34	0.38264	.	2.119390	0.02051	N	0.050078	T	0.29458	0.0734	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27123	-1.0083	10	0.02654	T	1	.	9.6359	0.39806	0.0:0.8995:0.0:0.1005	.	667	Q8TF30	WHAMM_HUMAN	E	667	ENSP00000286760:Q667E	ENSP00000234505:Q667E	Q	+	1	0	WHAMM	81296762	0.100000	0.21855	0.001000	0.08648	0.614000	0.37383	0.750000	0.26334	1.143000	0.42306	0.205000	0.17691	CAA	WHAMM	-	NULL		0.612	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	C			83499708	+1	no_errors	ENST00000286760	ensembl	human	known	70_37	missense	SNP	0.003	G
WHSC1L1	54904	genome.wustl.edu	37	8	38173490	38173490	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:38173490C>G	ENST00000317025.8	-	10	2443	c.1926G>C	c.(1924-1926)atG>atC	p.M642I	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.M642I|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.M642I|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	642					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGAACTAGTCATTTCTACAT	0.423			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													153.0	147.0	149.0					8																	38173490		2096	4222	6318	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1926G>C	8.37:g.38173490C>G	ENSP00000313983:p.Met642Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.M642I	ENST00000317025.8	37	c.1926	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074843	0.36566	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95307	-3.67;-3.67;-3.67	5.85	5.85	0.93711	.	0.379623	0.22094	U	0.064705	D	0.88742	0.6519	N	0.19112	0.55	0.80722	D	1	B;B;B	0.19200	0.02;0.034;0.02	B;B;B	0.15484	0.006;0.013;0.006	D	0.83631	0.0145	10	0.23302	T	0.38	.	13.3692	0.60703	0.0:0.9284:0.0:0.0716	.	642;642;642	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	I	642;642;579;642	ENSP00000393284:M642I;ENSP00000313983:M642I;ENSP00000434730:M642I	ENSP00000313983:M642I	M	-	3	0	WHSC1L1	38292647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.076000	0.50081	2.772000	0.95346	0.650000	0.86243	ATG	WHSC1L1	-	NULL		0.423	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38173490	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	missense	SNP	1.000	G
WIPI2	26100	genome.wustl.edu	37	7	5256388	5256388	+	Intron	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:5256388G>A	ENST00000288828.4	+	5	710				WIPI2_ENST00000404704.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000484262.1_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2						autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AGGTTCCGCAGATGAGACAGA	0.398																																																	0																																										SO:0001627	intron_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.478+98G>A	7.37:g.5256388G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	RNA	SNP	-	NULL	ENST00000288828.4	37	NULL	CCDS5339.1	7																																																																																			WIPI2	-	-		0.398	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	G	NM_015610		5256388	+1	no_errors	ENST00000488359	ensembl	human	known	70_37	rna	SNP	0.000	A
WISP3	8838	genome.wustl.edu	37	6	112389478	112389478	+	Silent	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:112389478C>A	ENST00000368666.2	+	4	946	c.660C>A	c.(658-660)tcC>tcA	p.S220S	WISP3_ENST00000230529.5_Silent_p.S220S|WISP3_ENST00000604763.1_Silent_p.S220S|TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Silent_p.S197S|WISP3_ENST00000361714.1_Silent_p.S238S	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	220	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCCCTGCTCCAGAACATGTG	0.383																																																	0													72.0	66.0	68.0					6																	112389478		2203	4300	6503	SO:0001819	synonymous_variant	8838			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.660C>A	6.37:g.112389478C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KR29|Q5H8W4|Q6UXH6	Silent	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.S238	ENST00000368666.2	37	c.714	CCDS5098.1	6	.	.	.	.	.	.	.	.	.	.	C	9.176	1.022408	0.19433	.	.	ENSG00000112761	ENST00000541400	.	.	.	5.8	1.55	0.23275	.	.	.	.	.	T	0.52964	0.1767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57636	-0.7777	5	0.66056	D	0.02	.	10.1711	0.42911	0.0:0.6105:0.0:0.3895	.	.	.	.	Q	220	.	ENSP00000438104:P220Q	P	+	2	0	WISP3	112496171	0.987000	0.35691	1.000000	0.80357	0.968000	0.65278	0.280000	0.18790	0.385000	0.24970	-0.140000	0.14226	CCA	WISP3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt		0.383	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	C	NM_003880		112389478	+1	no_errors	ENST00000361714	ensembl	human	known	70_37	silent	SNP	0.997	A
WNK1	65125	genome.wustl.edu	37	12	977104	977104	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:977104C>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.H823D|WNK1_ENST00000537687.1_Missense_Mutation_p.H738D|WNK1_ENST00000574564.1_Missense_Mutation_p.H37D|WNK1_ENST00000340908.4_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCAACTATTCATGAACGTCC	0.498																																					Colon(19;451 567 6672 12618 28860)												0													80.0	83.0	82.0					12																	977104		1925	4122	6047	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3327C>G	12.37:g.977104C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H823D	ENST00000315939.6	37	c.2467	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733821	0.48939	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.42513	0.97;0.97	5.8	5.8	0.92144	.	.	.	.	.	T	0.63838	0.2545	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	T	0.58418	-0.7640	8	0.33940	T	0.23	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	823	F5H2M7	.	D	738;823	ENSP00000444465:H738D;ENSP00000433548:H823D	ENSP00000433548:H823D	H	+	1	0	WNK1	847365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CAT	WNK1	-	NULL		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		977104	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	G
WNK1	65125	genome.wustl.edu	37	12	994616	994616	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:994616C>T	ENST00000315939.6	+	19	5289	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	WNK1_ENST00000535572.1_Missense_Mutation_p.S1302F|WNK1_ENST00000530271.2_Missense_Mutation_p.S2047F|WNK1_ENST00000537687.1_Missense_Mutation_p.S1809F|WNK1_ENST00000340908.4_Missense_Mutation_p.S1142F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1549					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCACCATCTTCCTCTTCCTCT	0.468																																					Colon(19;451 567 6672 12618 28860)												0													378.0	335.0	350.0					12																	994616		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4646C>T	12.37:g.994616C>T	ENSP00000313059:p.Ser1549Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S2047F	ENST00000315939.6	37	c.6140	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961379	0.53400	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.74351	0.3705	L	0.56769	1.78	0.43394	D	0.995518	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.73380	0.98;0.952;0.942	T	0.75569	-0.3272	10	0.87932	D	0	-11.1982	19.8046	0.96525	0.0:1.0:0.0:0.0	.	1302;1302;1549	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	F	1302;1549;1809;722;2047;1142	ENSP00000441972:S1302F;ENSP00000313059:S1549F;ENSP00000444465:S1809F;ENSP00000433548:S2047F;ENSP00000341292:S1142F	ENSP00000252477:S722F	S	+	2	0	WNK1	864877	0.613000	0.27009	0.904000	0.35570	0.631000	0.37964	3.845000	0.55880	2.748000	0.94277	0.655000	0.94253	TCC	WNK1	-	NULL		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		994616	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	0.894	T
WNK2	65268	genome.wustl.edu	37	9	96000536	96000536	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:96000536G>C	ENST00000297954.4	+	5	1255	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	WNK2_ENST00000395477.2_Missense_Mutation_p.E419Q|WNK2_ENST00000427277.2_Missense_Mutation_p.E31Q|WNK2_ENST00000349097.3_Missense_Mutation_p.E31Q|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.E405Q	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	419	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCAGCTTTGAGAAAGTGCA	0.562																																																	0													95.0	86.0	89.0					9																	96000536		2203	4300	6503	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1255G>C	9.37:g.96000536G>C	ENSP00000297954:p.Glu419Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E419Q	ENST00000297954.4	37	c.1255		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.50|15.50|15.50	2.852910|2.852910|2.852910	0.51270|0.51270|0.51270	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000432730|ENST00000411624	T;T;T;T;T;T|.|.	0.24538|.|.	1.85;1.85;1.85;1.85;1.85;1.85|.|.	4.65|4.65|4.65	3.74|3.74|3.74	0.42951|0.42951|0.42951	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.248403|.|.	0.41938|.|.	D|.|.	0.000783|.|.	T|T|.	0.50360|0.50360|.	0.1611|0.1611|.	N|N|N	0.25144|0.25144|0.25144	0.715|0.715|0.715	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;D;D|.|.	0.71674|.|.	0.998;0.949;0.996;0.998;0.998|.|.	P;P;P;P;D|.|.	0.68483|.|.	0.899;0.578;0.852;0.899;0.958|.|.	T|T|.	0.41998|0.41998|.	-0.9477|-0.9477|.	10|5|.	0.54805|.|.	T|.|.	0.06|.|.	.|.|.	14.4731|14.4731|14.4731	0.67529|0.67529|0.67529	0.0:0.0:0.8521:0.1479|0.0:0.0:0.8521:0.1479|0.0:0.0:0.8521:0.1479	.|.|.	419;419;22;419;419|.|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	Q|F|S	419;419;419;405;31;31|414|22	ENSP00000412465:E419Q;ENSP00000297954:E419Q;ENSP00000378860:E419Q;ENSP00000378858:E405Q;ENSP00000297876:E31Q;ENSP00000411181:E31Q|.|.	ENSP00000297954:E419Q|.|.	E|L|X	+|+|+	1|3|2	0|2|2	WNK2|WNK2|WNK2	95040357|95040357|95040357	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.546000|3.546000|3.546000	0.53656|0.53656|0.53656	1.017000|1.017000|1.017000	0.39495|0.39495|0.39495	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|TTG|TGA	WNK2	-	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		0.562	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	G	NM_006648		96000536	+1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	1.000	C
WNK3	65267	genome.wustl.edu	37	X	54337697	54337697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:54337697G>A	ENST00000375159.2	-	2	564	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.Q189*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q189*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGAATCTTTGCTGCTCAGCT	0.368																																																	0													103.0	92.0	96.0					X																	54337697		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.565C>T	X.37:g.54337697G>A	ENSP00000364301:p.Gln189*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q189*	ENST00000375159.2	37	c.565	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.455167	0.97581	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.398	17.1065	0.86665	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000346667:Q189X	Q	-	1	0	WNK3	54354422	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.756000	0.98918	2.391000	0.81399	0.594000	0.82650	CAA	WNK3	-	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		0.368	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54337697	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WNT2	7472	genome.wustl.edu	37	7	116962987	116962987	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:116962987G>A	ENST00000265441.3	-	1	356	c.57C>T	c.(55-57)ctC>ctT	p.L19L	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCGGGGGTGAGCCAGGTCA	0.607																																																	0													85.0	83.0	84.0					7																	116962987		2203	4300	6503	SO:0001819	synonymous_variant	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.57C>T	7.37:g.116962987G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0V1|Q75N05|Q9UDP9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.L19	ENST00000265441.3	37	c.57	CCDS5771.1	7																																																																																			WNT2	-	NULL		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	HGNC	protein_coding	OTTHUMT00000059749.3	G	NM_003391		116962987	-1	no_errors	ENST00000265441	ensembl	human	known	70_37	silent	SNP	1.000	A
WSCD1	23302	genome.wustl.edu	37	17	5991361	5991361	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:5991361G>C	ENST00000574946.1	+	3	869	c.479G>C	c.(478-480)gGa>gCa	p.G160A	WSCD1_ENST00000317744.5_Missense_Mutation_p.G160A|WSCD1_ENST00000573634.1_Missense_Mutation_p.G44A|WSCD1_ENST00000539421.1_Missense_Mutation_p.G160A|WSCD1_ENST00000574232.1_Missense_Mutation_p.G160A			Q658N2	WSCD1_HUMAN	WSC domain containing 1	160	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTCTGAAAGGAGCTGTGTTT	0.542																																																	0													178.0	151.0	160.0					17																	5991361		2203	4300	6503	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.479G>C	17.37:g.5991361G>C	ENSP00000460825:p.Gly160Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.G160A	ENST00000574946.1	37	c.479	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227645	0.79576	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.55588	0.51;0.51	5.83	5.83	0.93111	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.059638	0.64402	D	0.000003	T	0.56645	0.1999	L	0.61036	1.89	0.45330	D	0.998325	P	0.51933	0.949	P	0.47573	0.55	T	0.58578	-0.7612	10	0.49607	T	0.09	-47.2602	13.2279	0.59924	0.0:0.1594:0.8406:0.0	.	160	Q658N2	WSCD1_HUMAN	A	160	ENSP00000323087:G160A;ENSP00000446032:G160A	ENSP00000323087:G160A	G	+	2	0	WSCD1	5932085	1.000000	0.71417	0.983000	0.44433	0.943000	0.58893	5.367000	0.66127	2.756000	0.94617	0.655000	0.94253	GGA	WSCD1	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd		0.542	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	G	NM_015253		5991361	+1	no_errors	ENST00000317744	ensembl	human	known	70_37	missense	SNP	0.995	C
XDH	7498	genome.wustl.edu	37	2	31572578	31572578	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:31572578C>T	ENST00000379416.3	-	26	2991	c.2943G>A	c.(2941-2943)cgG>cgA	p.R981R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	981					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTCACTCTTCCGAGCATGAT	0.478																																					Colon(66;682 1445 30109 40147)												0													165.0	159.0	161.0					2																	31572578		2203	4300	6503	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2943G>A	2.37:g.31572578C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16681|Q16712|Q4PJ16	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.R981	ENST00000379416.3	37	c.2943	CCDS1775.1	2																																																																																			XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH		0.478	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	C	NM_000379		31572578	-1	no_errors	ENST00000379416	ensembl	human	known	70_37	silent	SNP	0.857	T
XIRP2	129446	genome.wustl.edu	37	2	168096425	168096425	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:168096425G>A	ENST00000409728.1	+	7	1107	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E307K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E85K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E85K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E340K|XIRP2_ENST00000409195.1_Missense_Mutation_p.E307K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E307K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E307K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	132					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCAAGAAATGAACAAGAAGG	0.418																																																	0													95.0	95.0	95.0					2																	168096425		1875	4112	5987	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1018G>A	2.37:g.168096425G>A	ENSP00000386619:p.Glu340Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.E307K	ENST00000409728.1	37	c.919	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770878	0.49680	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;4.21;-1.12;-1.12;4.21;4.22;-1.12	5.36	3.47	0.39725	.	0.727691	0.13083	N	0.415199	T	0.78323	0.4265	L	0.49126	1.545	0.34691	D	0.725706	B;P;P;B;B	0.46277	0.016;0.846;0.875;0.021;0.047	B;P;P;B;B	0.53035	0.009;0.561;0.716;0.016;0.018	T	0.79921	-0.1599	10	0.49607	T	0.09	-8.1369	6.3862	0.21561	0.2282:0.0:0.7718:0.0	.	132;307;340;132;85	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	K	307;340;307;307;340;307;85;85	ENSP00000386454:E307K;ENSP00000386619:E340K;ENSP00000386840:E307K;ENSP00000386724:E307K;ENSP00000415541:E340K;ENSP00000295237:E307K;ENSP00000387255:E85K;ENSP00000386981:E85K	ENSP00000295237:E307K	E	+	1	0	XIRP2	167804671	0.579000	0.26725	0.998000	0.56505	0.446000	0.32137	0.405000	0.21015	1.185000	0.42971	0.650000	0.86243	GAA	XIRP2	-	NULL		0.418	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168096425	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.951	A
TSIX	9383	genome.wustl.edu	37	X	73046913	73046913	+	lincRNA	SNP	C	C	G	rs376968973		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:73046913C>G	ENST00000604411.1	+	0	34874				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CTCAAACCATCTGTCTTATAC	0.473																																																	0													140.0	132.0	135.0					X																	73046913		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046913C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.473	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	C	NR_003255		73046913	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.772	G
XPNPEP1	7511	genome.wustl.edu	37	10	111651574	111651574	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:111651574G>A	ENST00000502935.1	-	5	440	c.321C>T	c.(319-321)atC>atT	p.I107I	XPNPEP1_ENST00000369680.4_Silent_p.I64I|XPNPEP1_ENST00000322238.8_Silent_p.I107I|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_5'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTCTGTGATGATGGCTGTGC	0.488																																																	0													126.0	114.0	118.0					10																	111651574		2203	4300	6503	SO:0001819	synonymous_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.321C>T	10.37:g.111651574G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I107	ENST00000502935.1	37	c.321	CCDS7560.2	10																																																																																			XPNPEP1	-	pfam_Creatinase		0.488	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	G			111651574	-1	no_errors	ENST00000502935	ensembl	human	known	70_37	silent	SNP	0.987	A
XPO6	23214	genome.wustl.edu	37	16	28143700	28143700	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:28143700C>G	ENST00000304658.5	-	12	2061	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	521					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAATAAACTTCTAAATTGTCC	0.299																																																	0													44.0	38.0	40.0					16																	28143700		1819	4066	5885	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1561G>C	16.37:g.28143700C>G	ENSP00000302790:p.Glu521Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E521Q	ENST00000304658.5	37	c.1561	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094071	0.36952	.	.	ENSG00000169180	ENST00000304658	T	0.65178	-0.14	5.26	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.169318	0.52532	D	0.000062	T	0.37293	0.0998	N	0.08118	0	0.46336	D	0.998992	B;B	0.16396	0.013;0.017	B;B	0.14023	0.01;0.006	T	0.13737	-1.0498	10	0.13853	T	0.58	-4.6453	9.9814	0.41815	0.0:0.9056:0.0:0.0944	.	521;521	B7ZM10;Q96QU8	.;XPO6_HUMAN	Q	521	ENSP00000302790:E521Q	ENSP00000302790:E521Q	E	-	1	0	XPO6	28051201	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.365000	0.66116	1.190000	0.43042	0.563000	0.77884	GAA	XPO6	-	superfamily_ARM-type_fold		0.299	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	C	XM_055195		28143700	-1	no_errors	ENST00000304658	ensembl	human	known	70_37	missense	SNP	1.000	G
XPO7	23039	genome.wustl.edu	37	8	21856640	21856640	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:21856640C>G	ENST00000252512.9	+	23	2567	c.2467C>G	c.(2467-2469)Cag>Gag	p.Q823E	XPO7_ENST00000433566.4_Missense_Mutation_p.Q824E|XPO7_ENST00000434536.1_Missense_Mutation_p.Q832E	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	823					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCCAAAGGATCAGGTCTATGC	0.473																																																	0													229.0	219.0	222.0					8																	21856640		2059	4227	6286	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2467C>G	8.37:g.21856640C>G	ENSP00000252512:p.Gln823Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q832E	ENST00000252512.9	37	c.2494	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784105	0.70222	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	D;D;D	0.82619	-1.63;-1.63;-1.63	5.87	5.87	0.94306	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.67517	2.055	0.80722	D	1	B;B;B	0.19935	0.04;0.001;0.001	B;B;B	0.18561	0.022;0.002;0.002	T	0.75434	-0.3319	10	0.02654	T	1	-12.5922	19.802	0.96511	0.0:1.0:0.0:0.0	.	824;832;823	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	E	832;823;824	ENSP00000404853:Q832E;ENSP00000252512:Q823E;ENSP00000410249:Q824E	ENSP00000252512:Q823E	Q	+	1	0	XPO7	21912586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.779000	0.95612	0.655000	0.94253	CAG	XPO7	-	superfamily_ARM-type_fold		0.473	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	C	NM_015024		21856640	+1	no_errors	ENST00000434536	ensembl	human	known	70_37	missense	SNP	1.000	G
XRCC1	7515	genome.wustl.edu	37	19	44047769	44047769	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44047769C>G	ENST00000262887.5	-	16	2330	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	XRCC1_ENST00000543982.1_Missense_Mutation_p.E564Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	595	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CTCACCTCCTCAAAGCTGGGA	0.552								Other BER factors																																									0													169.0	160.0	163.0					19																	44047769		2203	4300	6503	SO:0001583	missense	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1783G>C	19.37:g.44047769C>G	ENSP00000262887:p.Glu595Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBS4|Q9HCB1	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E595Q	ENST00000262887.5	37	c.1783	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156637	0.78114	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.80738	-1.41;-1.41	5.17	5.17	0.71159	BRCT (4);	0.056916	0.64402	D	0.000002	D	0.84442	0.5473	L	0.54323	1.7	0.47994	D	0.999565	D;D	0.67145	0.988;0.996	P;P	0.59595	0.722;0.86	T	0.82238	-0.0556	10	0.30854	T	0.27	-33.6512	14.5959	0.68407	0.0:1.0:0.0:0.0	.	564;595	F5H8D7;P18887	.;XRCC1_HUMAN	Q	609;595;564	ENSP00000262887:E595Q;ENSP00000443671:E564Q	ENSP00000262887:E595Q	E	-	1	0	XRCC1	48739609	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.246000	0.58740	2.614000	0.88457	0.549000	0.68633	GAG	XRCC1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.552	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	C	NM_006297		44047769	-1	no_errors	ENST00000262887	ensembl	human	known	70_37	missense	SNP	1.000	G
XRN1	54464	genome.wustl.edu	37	3	142074286	142074286	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:142074286C>T	ENST00000264951.4	-	32	3842	c.3725G>A	c.(3724-3726)gGa>gAa	p.G1242E	XRN1_ENST00000392981.2_Missense_Mutation_p.G1242E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1242					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						CTTTCCAGATCCCTGTAAGGA	0.303																																																	0													89.0	93.0	92.0					3																	142074286		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.3725G>A	3.37:g.142074286C>T	ENSP00000264951:p.Gly1242Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.G1242E	ENST00000264951.4	37	c.3725	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013939	0.35511	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.27890	1.64;1.64	4.77	0.85	0.18980	.	0.640885	0.16563	N	0.208958	T	0.14399	0.0348	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.29088	-1.0023	10	0.02654	T	1	-2.7391	5.3739	0.16154	0.0:0.568:0.1342:0.2978	.	1242;1242	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1242	ENSP00000264951:G1242E;ENSP00000376707:G1242E	ENSP00000264951:G1242E	G	-	2	0	XRN1	143556976	0.027000	0.19231	0.975000	0.42487	0.966000	0.64601	0.269000	0.18589	-0.057000	0.13199	0.460000	0.39030	GGA	XRN1	-	pirsf_5_3_exoribonuclease_1		0.303	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	C	NM_019001		142074286	-1	no_errors	ENST00000264951	ensembl	human	known	70_37	missense	SNP	0.997	T
YARS	8565	genome.wustl.edu	37	1	33256707	33256707	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:33256707C>T	ENST00000373477.4	-	6	1593					NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTTCAGTCCTCAATCTCTCCA	0.403																																																	0																																										SO:0001627	intron_variant	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.684+55G>A	1.37:g.33256707C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWK4|D3DPQ4|O43276|Q53EN1	RNA	SNP	-	NULL	ENST00000373477.4	37	NULL	CCDS368.1	1																																																																																			YARS	-	-		0.403	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	C	NM_003680		33256707	-1	no_errors	ENST00000470377	ensembl	human	known	70_37	rna	SNP	0.000	T
YARS2	51067	genome.wustl.edu	37	12	32908137	32908137	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:32908137G>C	ENST00000324868.8	-	1	699	c.672C>G	c.(670-672)ctC>ctG	p.L224L		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	224					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CATAGGCCTGGAGCACCTGGT	0.572											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86.0	93.0	91.0					12																	32908137		2203	4300	6503	SO:0001819	synonymous_variant	51067			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.672C>G	12.37:g.32908137G>C		Somatic	836	WXS	Illumina HiSeq	Phase_IV	D3DUW8|Q9H817	Silent	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.L224	ENST00000324868.8	37	c.672	CCDS31770.1	12																																																																																			YARS2	-	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase		0.572	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	G	NM_015936		32908137	-1	no_errors	ENST00000324868	ensembl	human	known	70_37	silent	SNP	0.995	C
YIPF2	78992	genome.wustl.edu	37	19	11034248	11034248	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11034248C>T	ENST00000586748.1	-	8	929	c.757G>A	c.(757-759)Gag>Aag	p.E253K	YIPF2_ENST00000253031.2_Missense_Mutation_p.E253K|YIPF2_ENST00000590329.1_Missense_Mutation_p.E214K			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	253						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CTGGTGTCCTCACGGACCACG	0.682																																																	0													37.0	41.0	40.0					19																	11034248		2203	4298	6501	SO:0001583	missense	78992			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.757G>A	19.37:g.11034248C>T	ENSP00000466055:p.Glu253Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Yip1	p.E253K	ENST00000586748.1	37	c.757	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570524	0.28003	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.32	1.97	0.26223	.	0.539371	0.20368	N	0.093711	T	0.19685	0.0473	N	0.16130	0.375	0.09310	N	1	B	0.30146	0.27	B	0.31812	0.136	T	0.13710	-1.0499	9	0.48119	T	0.1	-22.778	6.3726	0.21489	0.3373:0.5661:0.0:0.0966	.	253	Q9BWQ6	YIPF2_HUMAN	K	253	.	ENSP00000253031:E253K	E	-	1	0	YIPF2	10895248	0.064000	0.20934	0.829000	0.32907	0.171000	0.22731	2.280000	0.43443	0.979000	0.38497	0.462000	0.41574	GAG	YIPF2	-	NULL		0.682	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	C	NM_024029		11034248	-1	no_errors	ENST00000253031	ensembl	human	known	70_37	missense	SNP	0.051	T
YTHDF3	253943	genome.wustl.edu	37	8	64124494	64124494	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:64124494C>G	ENST00000517371.1	+	0	2613				YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCCACCTTCTCTTCCTTCTTG	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2230C>G	8.37:g.64124494C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-		0.338	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	C	NM_152758		64124494	+1	no_errors	ENST00000517371	ensembl	human	known	70_37	rna	SNP	1.000	G
YWHAE	7531	genome.wustl.edu	37	17	1265207	1265207	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1265207G>C	ENST00000264335.8	-	3	627	c.360C>G	c.(358-360)ttC>ttG	p.F120L	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.F98L	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	120					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TTTTATAATAGAAAACCTTGG	0.358			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																	Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	0													26.0	26.0	26.0					17																	1265207		2202	4283	6485	SO:0001583	missense	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.360C>G	17.37:g.1265207G>C	ENSP00000264335:p.Phe120Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.F120L	ENST00000264335.8	37	c.360	CCDS11001.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663978	0.88251	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.61392	0.11	5.18	5.18	0.71444	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.79839	0.4515	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83792	0.0231	10	0.87932	D	0	-32.5302	9.8206	0.40880	0.0929:0.0:0.9071:0.0	.	120	P62258	1433E_HUMAN	L	120;98	ENSP00000264335:F120L	ENSP00000264335:F120L	F	-	3	2	YWHAE	1211957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.420000	0.82092	0.558000	0.71614	TTC	YWHAE	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.358	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAE	HGNC	protein_coding	OTTHUMT00000259354.3	G	NM_006761		1265207	-1	no_errors	ENST00000264335	ensembl	human	known	70_37	missense	SNP	1.000	C
ZAP70	7535	genome.wustl.edu	37	2	98351063	98351063	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98351063G>A	ENST00000264972.5	+	9	1185	c.970G>A	c.(970-972)Gag>Aag	p.E324K	ZAP70_ENST00000442208.1_Missense_Mutation_p.E198K|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E17K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	324	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGACCCAGAGGAGCTCAAGGA	0.587																																																	0													136.0	115.0	122.0					2																	98351063		2203	4300	6503	SO:0001583	missense	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.970G>A	2.37:g.98351063G>A	ENSP00000264972:p.Glu324Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E324K	ENST00000264972.5	37	c.970	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.390583	0.95988	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.73047	-0.71;-0.7;-0.61	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.000000	0.50627	D	0.000112	D	0.83788	0.5330	M	0.77820	2.39	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.67103	0.949;0.84	D	0.85559	0.1226	10	0.87932	D	0	.	17.0749	0.86583	0.0:0.0:1.0:0.0	.	198;324	P43403-3;P43403	.;ZAP70_HUMAN	K	324;198;17	ENSP00000264972:E324K;ENSP00000411141:E198K;ENSP00000400475:E17K	ENSP00000264972:E324K	E	+	1	0	ZAP70	97717495	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GAG	ZAP70	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.587	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	G			98351063	+1	no_errors	ENST00000264972	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB1	22890	genome.wustl.edu	37	14	64990313	64990313	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64990313G>C	ENST00000554015.1	+	4	2522	c.2091G>C	c.(2089-2091)ttG>ttC	p.L697F	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Intron|ZBTB1_ENST00000394712.2_Missense_Mutation_p.L697F			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	697					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AATTTAATTTGAGGAAAGATA	0.353																																																	0													100.0	80.0	86.0					14																	64990313		692	1591	2283	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.2091G>C	14.37:g.64990313G>C	ENSP00000451000:p.Leu697Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S8|Q86SW8	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.L697F	ENST00000554015.1	37	c.2091	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936942	0.34189	.	.	ENSG00000126804	ENST00000554015;ENST00000394712	T;T	0.15603	2.41;2.41	5.66	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.47284	0.1437	M	0.87381	2.88	0.46774	D	0.999194	D	0.76494	0.999	D	0.91635	0.999	T	0.52426	-0.8577	8	.	.	.	-9.1369	15.5415	0.76052	0.077:0.0:0.923:0.0	.	697	Q9Y2K1	ZBTB1_HUMAN	F	697	ENSP00000451000:L697F;ENSP00000378201:L697F	.	L	+	3	2	ZBTB1	64060066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.234000	0.51320	2.688000	0.91661	0.650000	0.86243	TTG	ZBTB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	G			64990313	+1	no_errors	ENST00000394712	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB17	7709	genome.wustl.edu	37	1	16268388	16268388	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16268388C>G	ENST00000375743.4	-	0	2720				ZBTB17_ENST00000537142.1_3'UTR|ZBTB17_ENST00000375733.2_3'UTR	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTATTCTCTCTAGGGAAC	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.*76G>C	1.37:g.16268388C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	RNA	SNP	-	NULL	ENST00000375743.4	37	NULL	CCDS165.1	1																																																																																			ZBTB17	-	-		0.547	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16268388	-1	no_errors	ENST00000462525	ensembl	human	known	70_37	rna	SNP	1.000	G
ZBTB17	7709	genome.wustl.edu	37	1	16268529	16268529	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16268529C>T	ENST00000375743.4	-	16	2579	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E701K|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E790K	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	783	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGGCCCTCAGCCCCGTCG	0.657																																																	0													31.0	33.0	33.0					1																	16268529		2201	4298	6499	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2347G>A	1.37:g.16268529C>T	ENSP00000364895:p.Glu783Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E790K	ENST00000375743.4	37	c.2368	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411312	0.62399	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.13420	2.6;2.59;2.82	4.97	4.97	0.65823	.	0.458938	0.20909	N	0.083508	T	0.12689	0.0308	N	0.24115	0.695	0.80722	D	1	B;B;B	0.24721	0.11;0.103;0.023	B;B;B	0.25140	0.04;0.058;0.01	T	0.09907	-1.0653	10	0.52906	T	0.07	.	18.2039	0.89848	0.0:1.0:0.0:0.0	.	790;701;783	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	K	783;790;702;701	ENSP00000364895:E783K;ENSP00000364885:E790K;ENSP00000438529:E701K	ENSP00000364885:E790K	E	-	1	0	ZBTB17	16141116	0.078000	0.21339	0.302000	0.25058	0.668000	0.39293	1.138000	0.31491	2.467000	0.83353	0.563000	0.77884	GAG	ZBTB17	-	NULL		0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16268529	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	0.960	T
ZBTB17	7709	genome.wustl.edu	37	1	16269081	16269081	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269081C>T	ENST00000375743.4	-	14	2213	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	ZBTB17_ENST00000537142.1_Missense_Mutation_p.D579N|ZBTB17_ENST00000375733.2_Missense_Mutation_p.D661N	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	661	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACCATGTCATCCACAGTG	0.637																																																	0													80.0	67.0	71.0					1																	16269081		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1981G>A	1.37:g.16269081C>T	ENSP00000364895:p.Asp661Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D661N	ENST00000375743.4	37	c.1981	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.794370|4.794370	0.90453|0.90453	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000444358	T;T;T|.	0.07327|.	3.2;3.2;3.2|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55784|0.55784	0.1942|0.1942	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;B|.	0.69078|.	0.997;0.976;0.416|.	D;P;B|.	0.66196|.	0.942;0.724;0.064|.	T|T	0.50415|0.50415	-0.8831|-0.8831	10|5	0.87932|.	D|.	0|.	.|.	19.0967|19.0967	0.93255|0.93255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	661;579;661|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	N|I	661;661;580;579;217|217	ENSP00000364895:D661N;ENSP00000364885:D661N;ENSP00000438529:D579N|.	ENSP00000364881:D217N|.	D|M	-|-	1|3	0|0	ZBTB17|ZBTB17	16141668|16141668	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.917000|0.917000	0.54804|0.54804	5.554000|5.554000	0.67294|0.67294	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GAC|ATG	ZBTB17	-	NULL		0.637	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269081	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	0.996	T
ZBTB17	7709	genome.wustl.edu	37	1	16269105	16269105	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269105C>T	ENST00000375743.4	-	14	2189	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E571K|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E653K	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	653	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTGACCTCACTGCCCTCC	0.642																																																	0													78.0	64.0	69.0					1																	16269105		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1957G>A	1.37:g.16269105C>T	ENSP00000364895:p.Glu653Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E653K	ENST00000375743.4	37	c.1957	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176918	0.57692	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	T;T;T	0.07327	3.2;3.2;3.2	5.19	5.19	0.71726	.	0.069455	0.56097	D	0.000028	T	0.10208	0.0250	N	0.24115	0.695	0.80722	D	1	D;D;B	0.59767	0.986;0.973;0.029	P;P;B	0.50405	0.64;0.64;0.017	T	0.23547	-1.0185	10	0.30854	T	0.27	.	14.6813	0.69020	0.0:0.855:0.145:0.0	.	653;571;653	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	K	653;653;572;571;209	ENSP00000364895:E653K;ENSP00000364885:E653K;ENSP00000438529:E571K	ENSP00000364881:E209K	E	-	1	0	ZBTB17	16141692	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	7.712000	0.84684	2.579000	0.87056	0.563000	0.77884	GAG	ZBTB17	-	NULL		0.642	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269105	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB17	7709	genome.wustl.edu	37	1	16269117	16269117	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269117C>T	ENST00000375743.4	-	14	2177	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E567K|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E649K	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	649	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTCCTCGGGCTCCAGG	0.627																																																	0													75.0	62.0	66.0					1																	16269117		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1945G>A	1.37:g.16269117C>T	ENSP00000364895:p.Glu649Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E649K	ENST00000375743.4	37	c.1945	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.696370|2.696370	0.48202|0.48202	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	T;T;T|.	0.10382|.	2.88;2.88;2.88|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.406771|.	0.24866|.	N|.	0.034970|.	T|T	0.51415|0.51415	0.1673|0.1673	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;P;B|.	0.38280|.	0.473;0.625;0.005|.	B;B;B|.	0.28305|.	0.062;0.088;0.003|.	T|T	0.45804|0.45804	-0.9236|-0.9236	10|5	0.87932|.	D|.	0|.	.|.	16.2955|16.2955	0.82768|0.82768	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	649;567;649|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	K|Q	649;649;568;567;205|48	ENSP00000364895:E649K;ENSP00000364885:E649K;ENSP00000438529:E567K|.	ENSP00000364881:E205K|.	E|R	-|-	1|2	0|0	ZBTB17|ZBTB17	16141704|16141704	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.840000|0.840000	0.47671|0.47671	3.152000|3.152000	0.50677|0.50677	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GAG|CGA	ZBTB17	-	NULL		0.627	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269117	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB17	7709	genome.wustl.edu	37	1	16269231	16269231	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269231C>G	ENST00000375743.4	-	14	2063	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E529Q|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E611Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	611					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGGCTTCTCTCCTGGGGGA	0.592																																																	0													49.0	39.0	43.0					1																	16269231		2202	4300	6502	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1831G>C	1.37:g.16269231C>G	ENSP00000364895:p.Glu611Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E611Q	ENST00000375743.4	37	c.1831	CCDS165.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	29.3|29.3|29.3	4.998073|4.998073|4.998073	0.93227|0.93227|0.93227	.|.|.	.|.|.	ENSG00000116809|ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	.|T;T;T|.	.|0.25912|.	.|1.77;1.77;1.77|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.76343|0.76343|0.76343	0.3974|0.3974|0.3974	M|M|M	0.71871|0.71871|0.71871	2.18|2.18|2.18	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;D|.	.|0.89917|.	.|0.998;0.811;1.0|.	.|D;P;D|.	.|0.91635|.	.|0.994;0.554;0.999|.	T|T|T	0.74940|0.74940|0.74940	-0.3493|-0.3493|-0.3493	6|10|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	19.4289|19.4289|19.4289	0.94756|0.94756|0.94756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|611;529;611|.	.|Q13105-2;F5H411;Q13105|.	.|.;.;ZBT17_HUMAN|.	D|Q|T	167|611;611;530;529;167|10	.|ENSP00000364895:E611Q;ENSP00000364885:E611Q;ENSP00000438529:E529Q|.	.|ENSP00000364881:E167Q|.	E|E|R	-|-|-	3|1|2	2|0|0	ZBTB17|ZBTB17|ZBTB17	16141818|16141818|16141818	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.978000|0.978000|0.978000	0.69477|0.69477|0.69477	3.873000|3.873000|3.873000	0.56093|0.56093|0.56093	2.579000|2.579000|2.579000	0.87056|0.87056|0.87056	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GAG|AGA	ZBTB17	-	pfscan_Znf_C2H2		0.592	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269231	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB17	7709	genome.wustl.edu	37	1	16269299	16269299	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269299C>T	ENST00000375743.4	-	14	2061				ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000375733.2_Intron	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGGCCCTCAATGACTCGT	0.597																																																	0																																										SO:0001627	intron_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1829-66G>A	1.37:g.16269299C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	RNA	SNP	-	NULL	ENST00000375743.4	37	NULL	CCDS165.1	1																																																																																			ZBTB17	-	-		0.597	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269299	-1	no_errors	ENST00000488008	ensembl	human	known	70_37	rna	SNP	0.000	T
ZBTB17	7709	genome.wustl.edu	37	1	16270203	16270203	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16270203C>T	ENST00000375743.4	-	11	1699	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L	ZBTB17_ENST00000537142.1_Silent_p.L407L|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.L489L	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	489					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCCGCTTCAGGTTCCCTG	0.697																																																	0													46.0	44.0	45.0					1																	16270203		2203	4300	6503	SO:0001819	synonymous_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1467G>A	1.37:g.16270203C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L489	ENST00000375743.4	37	c.1467	CCDS165.1	1																																																																																			ZBTB17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16270203	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	silent	SNP	0.950	T
ZBTB17	7709	genome.wustl.edu	37	1	16270867	16270867	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16270867C>G	ENST00000375743.4	-	9	1531	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	ZBTB17_ENST00000537142.1_Missense_Mutation_p.K351N|ZBTB17_ENST00000448462.2_Missense_Mutation_p.K370N|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.K433N	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	433					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGCGCATCTTGGAAGTGG	0.647																																																	0													71.0	59.0	63.0					1																	16270867		2187	4277	6464	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1299G>C	1.37:g.16270867C>G	ENSP00000364895:p.Lys433Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K433N	ENST00000375743.4	37	c.1299	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124416|4.124416	0.77436|0.77436	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375729|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000444358;ENST00000448462	.|T;T;T;T	.|0.15017	.|3.16;3.16;3.16;2.46	5.47|5.47	4.55|4.55	0.56014|0.56014	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29190|0.29190	0.0726|0.0726	L|L	0.38175|0.38175	1.15|1.15	0.49687|0.49687	D|D	0.999814|0.999814	.|D;D;D;D;D	.|0.89917	.|1.0;0.997;1.0;0.999;0.999	.|D;D;D;D;D	.|0.91635	.|0.999;0.996;0.996;0.977;0.991	T|T	0.01018|0.01018	-1.1479|-1.1479	6|10	0.87932|0.66056	D|D	0|0.02	.|.	10.2256|10.2256	0.43222|0.43222	0.0:0.794:0.0:0.206|0.0:0.794:0.0:0.206	.|.	.|389;370;433;351;433	.|B4DYU5;E7EPQ4;Q13105-2;F5H411;Q13105	.|.;.;.;.;ZBT17_HUMAN	H|N	19|433;433;352;351;19;370	.|ENSP00000364895:K433N;ENSP00000364885:K433N;ENSP00000438529:K351N;ENSP00000391002:K370N	ENSP00000364881:D19H|ENSP00000364885:K433N	D|K	-|-	1|3	0|2	ZBTB17|ZBTB17	16143454|16143454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.416000|4.416000	0.59815|0.59815	2.564000|2.564000	0.86499|0.86499	0.561000|0.561000	0.74099|0.74099	GAT|AAG	ZBTB17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16270867	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB17	7709	genome.wustl.edu	37	1	16271564	16271564	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16271564C>T	ENST00000375743.4	-	7	1027	c.795G>A	c.(793-795)gaG>gaA	p.E265E	ZBTB17_ENST00000537142.1_Silent_p.E183E|ZBTB17_ENST00000448462.2_Silent_p.E202E|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.E265E	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	265					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCTCGTTCTCCTCGGGGG	0.672																																																	0													71.0	67.0	68.0					1																	16271564		2202	4300	6502	SO:0001819	synonymous_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.795G>A	1.37:g.16271564C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E265	ENST00000375743.4	37	c.795	CCDS165.1	1																																																																																			ZBTB17	-	NULL		0.672	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16271564	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	silent	SNP	0.037	T
ZBTB17	7709	genome.wustl.edu	37	1	16271600	16271600	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16271600C>T	ENST00000375743.4	-	7	991	c.759G>A	c.(757-759)gaG>gaA	p.E253E	ZBTB17_ENST00000537142.1_Silent_p.E171E|ZBTB17_ENST00000448462.2_Silent_p.E190E|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.E253E	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	253					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGGAACCCTCCTCCTTGA	0.662																																																	0													87.0	78.0	81.0					1																	16271600		2203	4300	6503	SO:0001819	synonymous_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.759G>A	1.37:g.16271600C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E253	ENST00000375743.4	37	c.759	CCDS165.1	1																																																																																			ZBTB17	-	NULL		0.662	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16271600	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	silent	SNP	0.732	T
ZBTB17	7709	genome.wustl.edu	37	1	16271638	16271638	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16271638C>G	ENST00000375743.4	-	7	953	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E159Q|ZBTB17_ENST00000448462.2_Missense_Mutation_p.E178Q|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E241Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	241					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		Ccctcctcctcttgctcctct	0.632																																																	0													104.0	90.0	95.0					1																	16271638		2199	4297	6496	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.721G>C	1.37:g.16271638C>G	ENSP00000364895:p.Glu241Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E241Q	ENST00000375743.4	37	c.721	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883967	0.33255	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	T;T;T;T	0.12774	2.66;2.65;2.96;2.85	5.37	3.43	0.39272	.	0.643291	0.14403	N	0.321774	T	0.14787	0.0357	L	0.29908	0.895	0.31631	N	0.64902	D;P;B;B;B;B	0.58970	0.984;0.828;0.009;0.033;0.048;0.005	P;B;B;B;B;B	0.53360	0.724;0.341;0.008;0.008;0.037;0.004	T	0.03576	-1.1023	10	0.14656	T	0.56	.	9.2986	0.37831	0.0:0.6549:0.2704:0.0747	.	165;178;241;159;241;241	B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	Q	241;241;160;159;178	ENSP00000364895:E241Q;ENSP00000364885:E241Q;ENSP00000438529:E159Q;ENSP00000391002:E178Q	ENSP00000364885:E241Q	E	-	1	0	ZBTB17	16144225	0.003000	0.15002	0.037000	0.18230	0.347000	0.29111	-1.065000	0.03458	1.221000	0.43506	0.561000	0.74099	GAG	ZBTB17	-	NULL		0.632	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16271638	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	0.903	G
ZBTB17	7709	genome.wustl.edu	37	1	16272374	16272374	+	Intron	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16272374C>T	ENST00000375743.4	-	6	768				ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Intron|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Intron	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTACCCTCTGCCCAGGGG	0.677																																																	0													28.0	33.0	31.0					1																	16272374		2202	4300	6502	SO:0001627	intron_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.536-39G>A	1.37:g.16272374C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	RNA	SNP	-	NULL	ENST00000375743.4	37	NULL	CCDS165.1	1																																																																																			ZBTB17	-	-		0.677	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16272374	-1	no_errors	ENST00000479282	ensembl	human	known	70_37	rna	SNP	0.009	T
ZBTB17	7709	genome.wustl.edu	37	1	16274987	16274987	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16274987C>A	ENST00000375743.4	-	3	236	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D2Y|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Missense_Mutation_p.D2Y	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	2	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGAAAGTCCATGGCTGAA	0.567																																																	0													46.0	45.0	46.0					1																	16274987		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.4G>T	1.37:g.16274987C>A	ENSP00000364895:p.Asp2Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D2Y	ENST00000375743.4	37	c.4	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.091020	0.94149	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.71103	1.99;1.99;-0.54	5.3	5.3	0.74995	BTB/POZ fold (2);	0.061993	0.64402	D	0.000005	T	0.80959	0.4724	L	0.46157	1.445	0.46416	D	0.999033	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;P;D	0.85130	0.946;0.997;0.906;0.997;0.887;0.988	T	0.82319	-0.0516	10	0.87932	D	0	.	18.3218	0.90241	0.0:1.0:0.0:0.0	.	2;2;2;2;2;2	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	Y	2	ENSP00000364895:D2Y;ENSP00000364885:D2Y;ENSP00000391002:D2Y	ENSP00000364885:D2Y	D	-	1	0	ZBTB17	16147574	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.666000	0.83877	2.649000	0.89929	0.561000	0.74099	GAC	ZBTB17	-	superfamily_BTB/POZ_fold		0.567	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16274987	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB40	9923	genome.wustl.edu	37	1	22835630	22835630	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22835630G>C	ENST00000375647.4	+	9	1944	c.1737G>C	c.(1735-1737)ctG>ctC	p.L579L	ZBTB40_ENST00000404138.1_Silent_p.L579L|ZBTB40_ENST00000374651.4_Silent_p.L467L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	579					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACAATCCTGAGGCATAACC	0.463																																																	0													152.0	146.0	148.0					1																	22835630		2203	4300	6503	SO:0001819	synonymous_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1737G>C	1.37:g.22835630G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75066|Q5TFU5|Q8N1R1	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L579	ENST00000375647.4	37	c.1737	CCDS224.1	1																																																																																			ZBTB40	-	NULL		0.463	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	G	NM_014870		22835630	+1	no_errors	ENST00000375647	ensembl	human	known	70_37	silent	SNP	1.000	C
ZC3H11A	9877	genome.wustl.edu	37	1	203765597	203765597	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:203765597G>A	ENST00000332127.4	+	0	266				ZC3H11A_ENST00000367212.3_5'UTR|ZC3H11A_ENST00000367214.1_5'UTR|ZC3H11A_ENST00000545588.1_5'Flank|ZC3H11A_ENST00000466470.1_3'UTR|ZBED6_ENST00000550078.1_5'UTR			O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAACCGTAATGAAGAACACCC	0.522																																																	0																																										SO:0001623	5_prime_UTR_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000332127.4:c.-592G>A	1.37:g.203765597G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	SNP	-	NULL	ENST00000332127.4	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-		0.522	ZC3H11A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087691.1	G	NM_014827		203765597	+1	no_errors	ENST00000466470	ensembl	human	known	70_37	rna	SNP	0.947	A
ZC3H11A	9877	genome.wustl.edu	37	1	203821344	203821344	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:203821344G>A	ENST00000545588.1	+	17	6077	c.2250G>A	c.(2248-2250)atG>atA	p.M750I	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.M750I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.M750I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.M750I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.M750I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	750					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCCAAATGAGCATGAAAA	0.488																																																	0													24.0	28.0	27.0					1																	203821344		2180	4264	6444	SO:0001583	missense	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2250G>A	1.37:g.203821344G>A	ENSP00000438527:p.Met750Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.M750I	ENST00000545588.1	37	c.2250	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	0	-2.740626	0.00088	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.56	2.66	0.31614	.	1.253910	0.05012	N	0.471217	T	0.27241	0.0668	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23013	-1.0200	10	0.35671	T	0.21	-31.6244	1.3244	0.02123	0.2256:0.1578:0.4535:0.1631	.	750	O75152	ZC11A_HUMAN	I	750;696;750;750;750;750	ENSP00000356183:M750I;ENSP00000356181:M750I;ENSP00000333253:M750I;ENSP00000438527:M750I;ENSP00000356179:M750I	ENSP00000333253:M750I	M	+	3	0	ZC3H11A	202087967	0.000000	0.05858	0.061000	0.19648	0.008000	0.06430	0.139000	0.16036	0.705000	0.31890	-0.310000	0.09108	ATG	ZC3H11A	-	NULL		0.488	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	G	NM_014827		203821344	+1	no_errors	ENST00000332127	ensembl	human	known	70_37	missense	SNP	0.003	A
ZC3H18	124245	genome.wustl.edu	37	16	88694028	88694028	+	Splice_Site	SNP	A	A	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:88694028A>T	ENST00000301011.5	+	14	2308		c.e14-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							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)		TTGTGTGTCCAGGTCCCTGAG	0.602																																					Ovarian(121;375 2276 20373 38669)												0													138.0	98.0	112.0					16																	88694028		2198	4300	6498	SO:0001630	splice_region_variant	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.2109-1A>T	16.37:g.88694028A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DG4|Q96MP7	Splice_Site	SNP	-	e13-2	ENST00000301011.5	37	c.2109-2	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875711	0.33162	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4408	0.67314	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87221529	1.000000	0.71417	0.890000	0.34922	0.102000	0.19082	8.932000	0.92897	1.882000	0.54519	0.402000	0.26972	.	ZC3H18	-	-		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	A	NM_144604	Intron	88694028	+1	no_errors	ENST00000301011	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ZCCHC8	55596	genome.wustl.edu	37	12	122958743	122958743	+	Silent	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:122958743G>C	ENST00000336229.4	-	14	1555	c.1425C>G	c.(1423-1425)ctC>ctG	p.L475L	ZCCHC8_ENST00000536306.1_Silent_p.L237L|ZCCHC8_ENST00000538116.1_Silent_p.L86L|ZCCHC8_ENST00000543897.1_Silent_p.L237L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	475	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTCCCCGGGGGAGTGGAGGAG	0.552																																																	0													57.0	63.0	61.0					12																	122958743		2068	4216	6284	SO:0001819	synonymous_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1425C>G	12.37:g.122958743G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.L475	ENST00000336229.4	37	c.1425		12																																																																																			ZCCHC8	-	NULL		0.552	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		G	NM_017612		122958743	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	silent	SNP	0.198	C
ZCCHC8	55596	genome.wustl.edu	37	12	122958781	122958781	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:122958781G>C	ENST00000336229.4	-	14	1517	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q225E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q74E|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Q225E	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	463					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGTTGAAACTGAAAACTTTCG	0.483																																																	0													62.0	67.0	65.0					12																	122958781		2028	4194	6222	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1387C>G	12.37:g.122958781G>C	ENSP00000337313:p.Gln463Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.Q463E	ENST00000336229.4	37	c.1387		12	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877038	0.17395	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.48522	0.87;0.87;0.86;0.81	5.96	3.99	0.46301	.	0.525243	0.23316	N	0.049510	T	0.38401	0.1039	L	0.52364	1.645	0.38692	D	0.952785	B	0.09022	0.002	B	0.04013	0.001	T	0.25813	-1.0121	10	0.16896	T	0.51	0.2624	10.4788	0.44680	0.0:0.1299:0.6013:0.2688	.	463	Q6NZY4	ZCHC8_HUMAN	E	225;225;463;74;74	ENSP00000441423:Q225E;ENSP00000438993:Q225E;ENSP00000337313:Q463E;ENSP00000440028:Q74E	ENSP00000337313:Q463E	Q	-	1	0	ZCCHC8	121524734	1.000000	0.71417	0.016000	0.15963	0.264000	0.26372	2.223000	0.42936	1.468000	0.48064	0.650000	0.86243	CAG	ZCCHC8	-	NULL		0.483	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		G	NM_017612		122958781	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	0.997	C
ZCWPW2	152098	genome.wustl.edu	37	3	28454782	28454782	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:28454782G>A	ENST00000383768.2	+	3	411	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E75K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	75							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CTCAATTTCTGAAGAAGACTT	0.393																																																	0													124.0	121.0	122.0					3																	28454782		2203	4300	6503	SO:0001583	missense	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.223G>A	3.37:g.28454782G>A	ENSP00000373278:p.Glu75Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.E75K	ENST00000383768.2	37	c.223	CCDS33723.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203802	0.79127	.	.	ENSG00000206559	ENST00000420223;ENST00000383768;ENST00000421010	T;T	0.42513	0.97;0.97	5.41	4.52	0.55395	Zinc finger, CW-type (2);	0.000000	0.64402	D	0.000017	T	0.68183	0.2973	M	0.88775	2.98	0.31671	N	0.644324	D	0.76494	0.999	D	0.87578	0.998	T	0.77308	-0.2636	10	0.87932	D	0	-16.9375	12.0985	0.53769	0.0:0.1733:0.8267:0.0	.	75	Q504Y3	ZCPW2_HUMAN	K	75	ENSP00000373278:E75K;ENSP00000412386:E75K	ENSP00000373278:E75K	E	+	1	0	ZCWPW2	28429786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.337000	0.65941	1.243000	0.43853	0.655000	0.94253	GAA	ZCWPW2	-	pfam_Znf_CW,pfscan_Znf_CW		0.393	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCWPW2	HGNC	protein_coding	OTTHUMT00000341318.1	G	XM_087384		28454782	+1	no_errors	ENST00000383768	ensembl	human	known	70_37	missense	SNP	1.000	A
ZDBF2	57683	genome.wustl.edu	37	2	207173771	207173771	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:207173771C>G	ENST00000374423.3	+	5	4905	c.4519C>G	c.(4519-4521)Caa>Gaa	p.Q1507E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1507							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTTCCTTTTCAAATAGTAGT	0.408																																																	0													92.0	92.0	92.0					2																	207173771		1876	4103	5979	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4519C>G	2.37:g.207173771C>G	ENSP00000363545:p.Gln1507Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.Q1507E	ENST00000374423.3	37	c.4519	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	6.356	0.433737	0.12045	.	.	ENSG00000204186	ENST00000374423	T	0.59364	0.27	4.03	2.2	0.27929	.	.	.	.	.	T	0.43456	0.1248	L	0.37850	1.14	0.24774	N	0.992857	B	0.21452	0.056	B	0.15870	0.014	T	0.23297	-1.0192	9	0.16420	T	0.52	.	10.5438	0.45047	0.0:0.5855:0.4145:0.0	.	1507	Q9HCK1	ZDBF2_HUMAN	E	1507	ENSP00000363545:Q1507E	ENSP00000363545:Q1507E	Q	+	1	0	ZDBF2	206882016	0.999000	0.42202	0.999000	0.59377	0.496000	0.33645	0.590000	0.23954	0.642000	0.30620	-0.165000	0.13383	CAA	ZDBF2	-	NULL		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207173771	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	1.000	G
ZDBF2	57683	genome.wustl.edu	37	2	207173891	207173891	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:207173891C>G	ENST00000374423.3	+	5	5025	c.4639C>G	c.(4639-4641)Cag>Gag	p.Q1547E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1547							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TATTCCCCTTCAGTTAGTGAC	0.403																																																	0													48.0	49.0	49.0					2																	207173891		1860	4092	5952	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4639C>G	2.37:g.207173891C>G	ENSP00000363545:p.Gln1547Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.Q1547E	ENST00000374423.3	37	c.4639	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273105	0.23221	.	.	ENSG00000204186	ENST00000374423	T	0.60920	0.15	3.79	-0.366	0.12545	.	.	.	.	.	T	0.58104	0.2099	L	0.53249	1.67	0.09310	N	1	D	0.53151	0.958	P	0.51550	0.673	T	0.51545	-0.8692	9	0.56958	D	0.05	.	8.3055	0.32041	0.1644:0.3652:0.4704:0.0	.	1547	Q9HCK1	ZDBF2_HUMAN	E	1547	ENSP00000363545:Q1547E	ENSP00000363545:Q1547E	Q	+	1	0	ZDBF2	206882136	0.932000	0.31603	0.024000	0.17045	0.247000	0.25773	0.412000	0.21131	-0.068000	0.12953	-0.179000	0.13096	CAG	ZDBF2	-	NULL		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207173891	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.033	G
ZDHHC8P1	150244	genome.wustl.edu	37	22	23742637	23742637	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:23742637G>A	ENST00000255890.4	-	0	572									zinc finger, DHHC-type containing 8 pseudogene 1																		CAGAGGCGCTGAGCGGTGGGG	0.652																																																	0																																												150244					22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23742637G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			ZDHHC8P1	-	-		0.652	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1	G	NR_003950		23742637	-1	no_errors	ENST00000255890	ensembl	human	known	70_37	rna	SNP	0.895	A
ZFHX2	85446	genome.wustl.edu	37	14	23992487	23992487	+	Missense_Mutation	SNP	G	G	A	rs372654874	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:23992487G>A	ENST00000419474.3	-	9	7019	c.6664C>T	c.(6664-6666)Cgc>Tgc	p.R2222C	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|ZFHX2_ENST00000606808.1_5'Flank	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	2222	Pro-rich.				adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GGCGCCAGGCGAGGCAAGGTT	0.662													g|||	6	0.00119808	0.0045	0.0	5008	,	,		16911	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	85446			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.6664C>T	14.37:g.23992487G>A	ENSP00000413418:p.Arg2222Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPU6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R2222C	ENST00000419474.3	37	c.6664	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348801	0.41599	.	.	ENSG00000136367	ENST00000419474	T	0.79352	-1.26	4.59	4.59	0.56863	.	0.000000	0.45361	D	0.000361	T	0.81143	0.4761	L	0.54323	1.7	0.46901	D	0.999244	D	0.76494	0.999	P	0.56474	0.799	T	0.81488	-0.0910	10	0.48119	T	0.1	.	12.7646	0.57385	0.0:0.0:1.0:0.0	.	2222	Q9C0A1	ZFHX2_HUMAN	C	2222	ENSP00000413418:R2222C	ENSP00000413418:R2222C	R	-	1	0	ZFHX2	23062327	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	3.553000	0.53713	2.385000	0.81259	0.455000	0.32223	CGC	ZFHX2	-	NULL		0.662	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	G	NM_014894		23992487	-1	no_errors	ENST00000419474	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72827610	72827610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:72827610G>A	ENST00000268489.5	-	9	9643	c.8971C>T	c.(8971-8973)Cag>Tag	p.Q2991*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q2077*|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2991					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACCAGACCTGAACGACTCTC	0.468																																																	0													138.0	132.0	134.0					16																	72827610		2198	4300	6498	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8971C>T	16.37:g.72827610G>A	ENSP00000268489:p.Gln2991*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q2991*	ENST00000268489.5	37	c.8971	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	52	19.827647	0.99924	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	6.17	6.17	0.99709	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	2991;2077	.	ENSP00000268489:Q2991X	Q	-	1	0	ZFHX3	71385111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAG	ZFHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.468	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72827610	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZFP14	57677	genome.wustl.edu	37	19	36831229	36831229	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36831229C>T	ENST00000270001.7	-	5	1614	c.1499G>A	c.(1498-1500)aGa>aAa	p.R500K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	500					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)	p.R500I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGGTGTTG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											70.0	69.0	70.0					19																	36831229		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1499G>A	19.37:g.36831229C>T	ENSP00000270001:p.Arg500Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD23	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.R500K	ENST00000270001.7	37	c.1499	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	c	13.82	2.349722	0.41599	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.18338	2.22	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000243	T	0.13500	0.0327	N	0.13299	0.325	0.80722	D	1	B;B	0.21309	0.052;0.054	B;B	0.31812	0.127;0.136	T	0.14035	-1.0487	10	0.46703	T	0.11	.	15.22	0.73303	0.0:1.0:0.0:0.0	.	500;500	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	K	500	ENSP00000270001:R500K	ENSP00000270001:R500K	R	-	2	0	ZFP14	41523069	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.471000	0.22100	2.177000	0.69029	0.551000	0.68910	AGA	ZFP14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	C	NM_020917		36831229	-1	no_errors	ENST00000270001	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFP36	7538	genome.wustl.edu	37	19	39898893	39898893	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39898893C>T	ENST00000248673.3	+	2	593	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZFP36_ENST00000597629.1_Missense_Mutation_p.P185S|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	179					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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 tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCCACCCTCCTGTGCTTCG	0.677																																					NSCLC(67;1164 1324 12056 21056 30097)												0													58.0	70.0	66.0					19																	39898893		2203	4299	6502	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.535C>T	19.37:g.39898893C>T	ENSP00000248673:p.Pro179Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P185S	ENST00000248673.3	37	c.553		19	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968846	0.53614	.	.	ENSG00000128016	ENST00000248673	T	0.23348	1.91	4.35	4.35	0.52113	.	0.295756	0.31601	N	0.007366	T	0.15739	0.0379	N	0.22421	0.69	0.27937	N	0.93764	B	0.31318	0.319	B	0.28916	0.096	T	0.10474	-1.0628	10	0.09338	T	0.73	-3.0222	14.448	0.67364	0.0:1.0:0.0:0.0	.	179	P26651	TTP_HUMAN	S	179	ENSP00000248673:P179S	ENSP00000248673:P179S	P	+	1	0	ZFP36	44590733	0.096000	0.21769	0.713000	0.30519	0.790000	0.44656	3.384000	0.52478	2.280000	0.76307	0.442000	0.29010	CCT	ZFP36	-	NULL		0.677	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		C			39898893	+1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.902	T
ZFP28	140612	genome.wustl.edu	37	19	57065070	57065070	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:57065070G>A	ENST00000301318.3	+	8	987	c.916G>A	c.(916-918)Gag>Aag	p.E306K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	306					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTGTACATGAGACCCAGGA	0.378																																					Ovarian(124;554 1662 19430 21141 52494)												0													64.0	60.0	61.0					19																	57065070		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.916G>A	19.37:g.57065070G>A	ENSP00000301318:p.Glu306Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.E306K	ENST00000301318.3	37	c.916	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030646	0.35797	.	.	ENSG00000196867	ENST00000301318	T	0.05513	3.43	4.82	3.73	0.42828	.	0.154659	0.30356	N	0.009811	T	0.04407	0.0121	N	0.17723	0.515	0.30011	N	0.81519	P	0.40970	0.734	B	0.40165	0.321	T	0.16541	-1.0399	10	0.07813	T	0.8	.	12.948	0.58384	0.0:0.1632:0.8368:0.0	.	306	Q8NHY6	ZFP28_HUMAN	K	306	ENSP00000301318:E306K	ENSP00000301318:E306K	E	+	1	0	ZFP28	61756882	0.013000	0.17824	0.836000	0.33094	0.532000	0.34746	1.664000	0.37439	2.493000	0.84123	0.655000	0.94253	GAG	ZFP28	-	NULL		0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	G	NM_020828		57065070	+1	no_errors	ENST00000301318	ensembl	human	known	70_37	missense	SNP	0.113	A
ZFP36L2	678	genome.wustl.edu	37	2	43452364	43452364	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:43452364C>G	ENST00000282388.3	-	2	872	c.579G>C	c.(577-579)aaG>aaC	p.K193N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	193	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ACAGCTCGGTCTTGTACTTCG	0.657																																																	0													45.0	41.0	42.0					2																	43452364		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.579G>C	2.37:g.43452364C>G	ENSP00000282388:p.Lys193Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.K193N	ENST00000282388.3	37	c.579	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348936	0.61183	.	.	ENSG00000152518	ENST00000282388	T	0.59083	0.29	4.44	4.44	0.53790	Zinc finger, CCCH-type (3);	0.128726	0.50627	N	0.000114	D	0.83119	0.5185	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.89272	0.3605	10	0.87932	D	0	-27.0877	15.9071	0.79439	0.0:1.0:0.0:0.0	.	193	P47974	TISD_HUMAN	N	193	ENSP00000282388:K193N	ENSP00000282388:K193N	K	-	3	2	ZFP36L2	43305868	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	1.703000	0.37846	2.025000	0.59659	0.555000	0.69702	AAG	ZFP36L2	-	pfam_Znf_CCCH,smart_Znf_CCCH		0.657	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452364	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	1.000	G
ZFR	51663	genome.wustl.edu	37	5	32387714	32387714	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:32387714C>G	ENST00000265069.8	-	14	2542	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	814	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GAAGGTTTCTCTGAGCACAGC	0.403																																																	0													125.0	123.0	124.0					5																	32387714		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2440G>C	5.37:g.32387714C>G	ENSP00000265069:p.Glu814Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E814Q	ENST00000265069.8	37	c.2440	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594996	0.28445	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.47177	0.85	5.7	5.7	0.88788	DZF (2);	0.045348	0.85682	D	0.000000	T	0.44767	0.1309	L	0.48642	1.525	0.58432	D	0.999999	P	0.37914	0.611	B	0.35114	0.196	T	0.31336	-0.9947	10	0.33141	T	0.24	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	814	Q96KR1	ZFR_HUMAN	Q	814;792	ENSP00000265069:E814Q	ENSP00000265069:E814Q	E	-	1	0	ZFR	32423471	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.629000	0.61290	2.683000	0.91414	0.650000	0.86243	GAG	ZFR	-	pfam_DZF,smart_DZF		0.403	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	C			32387714	-1	no_errors	ENST00000265069	ensembl	human	known	70_37	missense	SNP	1.000	G
ZFX	7543	genome.wustl.edu	37	X	24197734	24197734	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:24197734G>A	ENST00000379177.1	+	6	920	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	ZFX_ENST00000304543.5_Missense_Mutation_p.E165K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.E165K|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.E204K|ZFX_ENST00000338565.3_Missense_Mutation_p.E165K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	165					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGTGGAAGCAGAAATTGTCAC	0.453																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													236.0	182.0	200.0					X																	24197734		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.493G>A	X.37:g.24197734G>A	ENSP00000368475:p.Glu165Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E204K	ENST00000379177.1	37	c.610	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454382	0.84209	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.97	5.97	0.96955	Transcriptional activator, Zfx / Zfy domain (1);	0.078207	0.52532	D	0.000070	T	0.65249	0.2673	L	0.56769	1.78	0.80722	D	1	P;D;P;D	0.55385	0.879;0.971;0.505;0.967	P;P;B;P	0.55260	0.676;0.716;0.171;0.772	T	0.62263	-0.6891	9	.	.	.	-1.1415	19.371	0.94484	0.0:0.0:1.0:0.0	.	204;165;165;169	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	165;165;165;165;204;165	ENSP00000368486:E165K;ENSP00000368475:E165K;ENSP00000304985:E165K;ENSP00000441382:E204K;ENSP00000343384:E165K	.	E	+	1	0	ZFX	24107655	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.094000	0.64523	2.527000	0.85204	0.600000	0.82982	GAA	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.453	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	G	NM_003410		24197734	+1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFYVE1	53349	genome.wustl.edu	37	14	73490808	73490808	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:73490808C>G	ENST00000556143.1	-	2	1129	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.E137Q|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.E137Q	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	137					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.E137K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGGTCTCCTCATCCATCTCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											212.0	222.0	218.0					14																	73490808		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.409G>C	14.37:g.73490808C>G	ENSP00000450742:p.Glu137Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E137Q	ENST00000556143.1	37	c.409	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268354	0.40095	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.64991	-0.13;-0.13;-0.13	5.68	5.68	0.88126	.	0.256872	0.38492	N	0.001666	T	0.44074	0.1276	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.31971	-0.9924	10	0.27082	T	0.32	-32.9689	12.7278	0.57180	0.0:0.9243:0.0:0.0757	.	137;137	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Q	137	ENSP00000452442:E137Q;ENSP00000326921:E137Q;ENSP00000450742:E137Q	ENSP00000326921:E137Q	E	-	1	0	ZFYVE1	72560561	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.609000	0.36858	2.695000	0.91970	0.650000	0.86243	GAG	ZFYVE1	-	superfamily_Growth_fac_rcpt		0.463	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	C	NM_021260		73490808	-1	no_errors	ENST00000553891	ensembl	human	known	70_37	missense	SNP	1.000	G
ZGPAT	84619	genome.wustl.edu	37	20	62340158	62340158	+	Missense_Mutation	SNP	G	G	A	rs201544347		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:62340158G>A	ENST00000328969.5	+	2	353	c.226G>A	c.(226-228)Gat>Aat	p.D76N	ZGPAT_ENST00000357119.4_Missense_Mutation_p.D76N|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D76N|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D76N|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D76N|ARFRP1_ENST00000609142.1_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	76					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCGCCAGGAAGATGCTGAGTA	0.652																																																	0													45.0	52.0	49.0					20																	62340158		2203	4300	6503	SO:0001583	missense	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.226G>A	20.37:g.62340158G>A	ENSP00000332013:p.Asp76Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.D76N	ENST00000328969.5	37	c.226	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912438	0.33721	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.09	4.09	0.47781	.	0.837653	0.10503	N	0.667065	T	0.37348	0.1000	M	0.70595	2.14	0.09310	N	1	B;P;P	0.42961	0.326;0.795;0.754	B;B;B	0.32805	0.091;0.141;0.153	T	0.38478	-0.9659	10	0.59425	D	0.04	2.0974	14.5037	0.67739	0.0:0.0:1.0:0.0	.	76;76;76	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	N	76	ENSP00000391176:D76N;ENSP00000348242:D76N;ENSP00000349634:D76N;ENSP00000403966:D76N;ENSP00000358984:D76N;ENSP00000332013:D76N	ENSP00000332013:D76N	D	+	1	0	ZGPAT	61810602	0.935000	0.31712	0.004000	0.12327	0.034000	0.12701	3.244000	0.51399	1.832000	0.53329	0.561000	0.74099	GAT	ZGPAT	-	NULL		0.652	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	G	NM_181484		62340158	+1	no_errors	ENST00000328969	ensembl	human	known	70_37	missense	SNP	0.028	A
ZMYM2	7750	genome.wustl.edu	37	13	20633604	20633604	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:20633604G>C	ENST00000382874.2	+	17	2831	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E881Q|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E881Q	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	881					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTGGAGGACAGAATATGTTCC	0.363																																																	0													216.0	188.0	197.0					13																	20633604		1903	4133	6036	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2641G>C	13.37:g.20633604G>C	ENSP00000372327:p.Glu881Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.E881Q	ENST00000382874.2	37	c.2641	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	3.997	-0.003406	0.07773	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.17528	2.27	5.32	5.32	0.75619	.	0.044323	0.85682	D	0.000000	T	0.11024	0.0269	N	0.21142	0.635	0.80722	D	1	P	0.52842	0.956	B	0.43990	0.438	T	0.06481	-1.0824	10	0.02654	T	1	-10.706	12.045	0.53475	0.0799:0.0:0.9201:0.0	.	881	Q9UBW7	ZMYM2_HUMAN	Q	881;881;879;879;259	ENSP00000372322:E881Q	ENSP00000372322:E881Q	E	+	1	0	ZMYM2	19531604	1.000000	0.71417	0.942000	0.38095	0.418000	0.31294	5.857000	0.69525	2.501000	0.84356	0.563000	0.77884	GAA	ZMYM2	-	NULL		0.363	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	G	NM_003453		20633604	+1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	C
ZIC5	85416	genome.wustl.edu	37	13	100622612	100622612	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:100622612C>T	ENST00000267294.4	-	1	1551	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	440					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCACCAGCTCGTGCATGGTG	0.741																																																	0													50.0	49.0	49.0					13																	100622612		2203	4300	6503	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1318G>A	13.37:g.100622612C>T	ENSP00000267294:p.Glu440Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E440K	ENST00000267294.4	37	c.1318	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	C	33	5.223777	0.95139	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.35605	1.3	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.41190	0.1148	M	0.74546	2.27	0.80722	D	1	P	0.50943	0.94	B	0.40285	0.325	T	0.55573	-0.8120	9	0.87932	D	0	.	15.7566	0.78037	0.0:1.0:0.0:0.0	.	440	Q96T25	ZIC5_HUMAN	K	78;440	ENSP00000267294:E440K	ENSP00000267294:E440K	E	-	1	0	ZIC5	99420613	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.357000	0.79456	1.983000	0.57843	0.313000	0.20887	GAG	ZIC5	-	smart_Znf_C2H2-like		0.741	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	C	NM_033132		100622612	-1	no_errors	ENST00000267294	ensembl	human	novel	70_37	missense	SNP	1.000	T
ZMYM3	9203	genome.wustl.edu	37	X	70469443	70469443	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:70469443C>G	ENST00000353904.2	-	7	1525	c.1338G>C	c.(1336-1338)ctG>ctC	p.L446L	ZMYM3_ENST00000373978.1_Nonstop_Mutation_p.*350S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Silent_p.L446L|ZMYM3_ENST00000373982.1_Silent_p.L448L|ZMYM3_ENST00000373988.1_Silent_p.L448L|ZMYM3_ENST00000314425.5_Silent_p.L446L|ZMYM3_ENST00000373981.1_Silent_p.L446L|ZMYM3_ENST00000373984.3_Silent_p.L448L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	446					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGTTGGTTTTCAGTCCCTTGT	0.562																																																	0													149.0	95.0	113.0					X																	70469443		2203	4300	6503	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1338G>C	X.37:g.70469443C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVV3|O15089|Q96E26	Nonstop_Mutation	SNP	NULL	p.*350S	ENST00000353904.2	37	c.1049	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	9.719	1.159214	0.21454	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.43	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5573	7.2138	0.25949	0.0:0.6781:0.0:0.3219	.	.	.	.	S	350	.	.	X	-	2	2	ZMYM3	70386168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.759000	0.26461	0.807000	0.34208	0.464000	0.42555	TGA	ZMYM3	-	NULL		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	C	NM_201599		70469443	-1	no_errors	ENST00000373978	ensembl	human	known	70_37	nonstop	SNP	1.000	G
ZMYM6	9204	genome.wustl.edu	37	1	35496238	35496238	+	Start_Codon_SNP	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:35496238C>G	ENST00000357182.4	-	2	230	c.3G>C	c.(1-3)atG>atC	p.M1I	ZMYM6_ENST00000487874.1_Start_Codon_SNP_p.M1I|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Start_Codon_SNP_p.M1I|ZMYM6_ENST00000317538.5_Start_Codon_SNP_p.M1I|ZMYM6_ENST00000373333.1_Start_Codon_SNP_p.M1I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAGGTTCTTTCATTCTAATTT	0.383																																																	0													122.0	124.0	123.0					1																	35496238		2203	4300	6503	SO:0001582	initiator_codon_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3G>C	1.37:g.35496238C>G	ENSP00000349708:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.M1I	ENST00000357182.4	37	c.3	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999209	0.74818	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	T;T;T;T;T	0.45668	1.99;3.15;1.55;0.89;0.89	4.56	3.57	0.40892	.	0.113777	0.64402	D	0.000018	T	0.31389	0.0795	.	.	.	0.80722	D	1	B;B;B	0.23128	0.08;0.064;0.017	B;B;B	0.27887	0.084;0.019;0.011	T	0.32402	-0.9908	9	0.87932	D	0	-17.7262	5.3291	0.15922	0.2714:0.6281:0.0:0.1005	.	1;1;1	O95789-4;O95789;O95789-1	.;ZMYM6_HUMAN;.	I	1	ENSP00000362437:M1I;ENSP00000349708:M1I;ENSP00000391337:M1I;ENSP00000326695:M1I;ENSP00000362430:M1I	ENSP00000326695:M1I	M	-	3	0	ZMYM6	35268825	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.349000	0.33998	2.524000	0.85096	0.650000	0.86243	ATG	ZMYM6	-	NULL		0.383	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	C	NM_007167	Missense_Mutation	35496238	-1	no_errors	ENST00000357182	ensembl	human	known	70_37	missense	SNP	1.000	G
ZMYND10	51364	genome.wustl.edu	37	3	50380767	50380767	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:50380767C>T	ENST00000231749.3	-	5	1753	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZMYND10_ENST00000360165.3_Missense_Mutation_p.E161K|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	161					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGATCCCTCCCCCTCAGGG	0.607										TSP Lung(30;0.18)																																							0													58.0	61.0	60.0					3																	50380767		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.481G>A	3.37:g.50380767C>T	ENSP00000231749:p.Glu161Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.E161K	ENST00000231749.3	37	c.481	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	C	7.501	0.652677	0.14580	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.31247	1.5;1.5;1.5	5.34	3.54	0.40534	.	0.623468	0.17440	N	0.174172	T	0.18676	0.0448	L	0.28274	0.84	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.002	T	0.12837	-1.0532	10	0.31617	T	0.26	-8.7836	5.5432	0.17049	0.0:0.596:0.2216:0.1824	.	161;161	O75800-2;O75800	.;ZMY10_HUMAN	K	161;161;118	ENSP00000231749:E161K;ENSP00000353289:E161K;ENSP00000393687:E118K	ENSP00000231749:E161K	E	-	1	0	ZMYND10	50355771	0.000000	0.05858	0.179000	0.23059	0.102000	0.19082	0.539000	0.23175	1.267000	0.44247	0.561000	0.74099	GAG	ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.607	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	C	NM_015896		50380767	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	missense	SNP	0.001	T
ZMYND15	84225	genome.wustl.edu	37	17	4649284	4649284	+	Nonstop_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:4649284G>C	ENST00000433935.1	+	14	2285	c.2228G>C	c.(2227-2229)tGa>tCa	p.*743S	ZMYND15_ENST00000269289.6_Nonstop_Mutation_p.*704S|ZMYND15_ENST00000573751.2_Nonstop_Mutation_p.*751S|ZMYND15_ENST00000592813.1_Nonstop_Mutation_p.*704S	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	0					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						cggcggAAATGAATGCTGATA	0.597																																																	0													4.0	6.0	5.0					17																	4649284		1450	3054	4504	SO:0001578	stop_lost	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.2228G>C	17.37:g.4649284G>C	ENSP00000391742:p.*743Serext*5	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXY5|I3L296	Nonstop_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.*743S	ENST00000433935.1	37	c.2228	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	6.834	0.522987	0.13066	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	.	.	.	4.22	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2826	0.31908	0.1109:0.0:0.8891:0.0	.	.	.	.	S	743;704	.	.	X	+	2	2	ZMYND15	4596033	1.000000	0.71417	0.834000	0.33040	0.107000	0.19398	1.638000	0.37165	1.119000	0.41883	-0.137000	0.14449	TGA	ZMYND15	-	NULL		0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	G	NM_032265		4649284	+1	no_errors	ENST00000433935	ensembl	human	known	70_37	nonstop	SNP	0.937	C
ZNF12	7559	genome.wustl.edu	37	7	6731194	6731194	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:6731194G>A	ENST00000405858.1	-	5	1920	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.S386L|ZNF12_ENST00000342651.5_Missense_Mutation_p.S422L|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	460					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTCTCTCCTGAATGAGTTCT	0.423																																																	0													78.0	85.0	83.0					7																	6731194		2196	4298	6494	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1379C>T	7.37:g.6731194G>A	ENSP00000385939:p.Ser460Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	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.S460L	ENST00000405858.1	37	c.1379	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092107	0.36952	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.18960	2.18;2.18;2.18	4.0	1.19	0.21007	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33980	N	0.004379	T	0.18045	0.0433	L	0.52573	1.65	0.31775	N	0.631659	B;B	0.12013	0.005;0.002	B;B	0.14023	0.01;0.004	T	0.10497	-1.0627	10	0.87932	D	0	.	8.3063	0.32045	0.2739:0.0:0.7261:0.0	.	460;422	P17014;P17014-5	ZNF12_HUMAN;.	L	386;460;422;518;422	ENSP00000384405:S386L;ENSP00000385939:S460L;ENSP00000344745:S422L	ENSP00000331039:S422L	S	-	2	0	ZNF12	6697719	0.978000	0.34361	0.935000	0.37517	0.999000	0.98932	1.808000	0.38912	0.259000	0.21709	0.655000	0.94253	TCA	ZNF12	-	pfscan_Znf_C2H2		0.423	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6731194	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	missense	SNP	0.996	A
ZNF131	7690	genome.wustl.edu	37	5	43174963	43174963	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:43174963G>C	ENST00000399534.1	+	7	1644	c.1600G>C	c.(1600-1602)Gaa>Caa	p.E534Q	ZNF131_ENST00000306938.4_Missense_Mutation_p.E500Q|ZNF131_ENST00000509156.1_Missense_Mutation_p.E534Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E500Q|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.E500Q			P52739	ZN131_HUMAN	zinc finger protein 131	534					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCAGACTGAAGAAGGTACTGA	0.478																																																	0													65.0	64.0	64.0					5																	43174963		1988	4154	6142	SO:0001583	missense	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1600G>C	5.37:g.43174963G>C	ENSP00000382450:p.Glu534Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRL3|Q6PIF0	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.E534Q	ENST00000399534.1	37	c.1600		5	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030728	0.19512	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.91	4.11	0.48088	.	0.169159	0.52532	D	0.000077	T	0.49830	0.1580	N	0.17082	0.46	0.34990	D	0.754887	B;B	0.13145	0.004;0.007	B;B	0.13407	0.004;0.009	T	0.46735	-0.9170	10	0.05721	T	0.95	-15.7863	5.5292	0.16974	0.0768:0.2543:0.5528:0.1161	.	534;500	P52739;P52739-2	ZN131_HUMAN;.	Q	534;500;534;500;500	ENSP00000426504:E534Q;ENSP00000305804:E500Q;ENSP00000382450:E534Q;ENSP00000423945:E500Q;ENSP00000421246:E500Q	ENSP00000305804:E500Q	E	+	1	0	ZNF131	43210720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.349000	0.52217	0.819000	0.34492	0.460000	0.39030	GAA	ZNF131	-	NULL		0.478	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	G	NM_003432		43174963	+1	no_errors	ENST00000399534	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF18	7566	genome.wustl.edu	37	17	11881927	11881927	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:11881927C>G	ENST00000322748.3	-	9	1601	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ZNF18_ENST00000454073.3_Missense_Mutation_p.E332Q|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Missense_Mutation_p.E333Q	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	333					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)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CATCCTGGCTCATCCTCAGTG	0.517																																																	0													132.0	140.0	137.0					17																	11881927		2203	4300	6503	SO:0001583	missense	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.997G>C	17.37:g.11881927C>G	ENSP00000315664:p.Glu333Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E333Q	ENST00000322748.3	37	c.997	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473694	0.43942	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.06849	3.25	5.39	5.39	0.77823	.	0.517808	0.17966	N	0.156031	T	0.05731	0.0150	N	0.24115	0.695	0.09310	N	1	B;B	0.29232	0.238;0.153	B;B	0.26969	0.075;0.034	T	0.39143	-0.9628	10	0.14252	T	0.57	-5.1484	10.4692	0.44626	0.0:0.9111:0.0:0.0889	.	332;333	P17022-2;P17022	.;ZNF18_HUMAN	Q	333	ENSP00000315664:E333Q	ENSP00000315664:E333Q	E	-	1	0	ZNF18	11822652	0.000000	0.05858	0.044000	0.18714	0.918000	0.54935	0.628000	0.24522	2.676000	0.91093	0.557000	0.71058	GAG	ZNF18	-	NULL		0.517	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	C	XM_085596		11881927	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	missense	SNP	0.067	G
ZNF184	7738	genome.wustl.edu	37	6	27420303	27420303	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27420303C>G	ENST00000211936.6	-	6	1319	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q345H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGGCCTCTCTGGCTAAAGG	0.423																																																	0													53.0	54.0	54.0					6																	27420303		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1035G>C	6.37:g.27420303C>G	ENSP00000211936:p.Gln345His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R715|O60792|Q8TBA9	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.Q345H	ENST00000211936.6	37	c.1035	CCDS4624.1	6	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267970	0.23136	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.05513	3.43;3.43	4.69	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000397	T	0.01156	0.0038	N	0.20304	0.555	0.35233	D	0.777127	B	0.27286	0.174	B	0.15484	0.013	T	0.49753	-0.8906	10	0.31617	T	0.26	.	4.8175	0.13374	0.1701:0.6616:0.0:0.1683	.	345	Q99676	ZN184_HUMAN	H	345;345;345;33	ENSP00000211936:Q345H;ENSP00000366636:Q345H	ENSP00000211936:Q345H	Q	-	3	2	ZNF184	27528282	0.002000	0.14202	1.000000	0.80357	0.950000	0.60333	0.601000	0.24119	0.714000	0.32081	-1.028000	0.02416	CAG	ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	C	NM_007149		27420303	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	missense	SNP	0.903	G
ZNF195	7748	genome.wustl.edu	37	11	3380802	3380802	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:3380802G>C	ENST00000399602.4	-	6	1562	c.1436C>G	c.(1435-1437)tCa>tGa	p.S479*	ZNF195_ENST00000526601.1_Nonsense_Mutation_p.S460*|ZNF195_ENST00000343338.7_Nonsense_Mutation_p.S411*|ZNF195_ENST00000429541.2_Nonsense_Mutation_p.S411*|ZNF195_ENST00000354599.6_Nonsense_Mutation_p.S407*|ZNF195_ENST00000005082.9_Nonsense_Mutation_p.S456*|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAAAGGCTTGAGCAAGTTCT	0.443																																																	0													114.0	118.0	117.0					11																	3380802		2079	4235	6314	SO:0001587	stop_gained	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1436C>G	11.37:g.3380802G>C	ENSP00000382511:p.Ser479*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Nonsense_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.S479*	ENST00000399602.4	37	c.1436	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598605	0.87055	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.294	0.15743	0.0:0.3688:0.6312:0.0	.	.	.	.	X	407;479;411;411;456;460	.	ENSP00000005082:S456X	S	-	2	0	ZNF195	3337378	0.001000	0.12720	0.003000	0.11579	0.439000	0.31926	0.643000	0.24750	0.638000	0.30545	0.305000	0.20034	TCA	ZNF195	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	HGNC	protein_coding	OTTHUMT00000032321.2	G			3380802	-1	no_errors	ENST00000399602	ensembl	human	known	70_37	nonsense	SNP	0.001	C
ZNF221	7638	genome.wustl.edu	37	19	44471050	44471050	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44471050G>C	ENST00000251269.5	+	6	1724	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	ZNF221_ENST00000587682.1_Missense_Mutation_p.E466Q|ZNF221_ENST00000592350.1_Missense_Mutation_p.E466Q	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GTTGGATCTTGAGTTTCACCA	0.458																																																	0													74.0	70.0	71.0					19																	44471050		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1396G>C	19.37:g.44471050G>C	ENSP00000251269:p.Glu466Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI6|Q2M2H2|Q9P1U8	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.E466Q	ENST00000251269.5	37	c.1396	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941318	0.34283	.	.	ENSG00000159905	ENST00000251269	T	0.17528	2.27	2.63	-5.25	0.02781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.00569	-1.365	0.09310	N	1	P	0.37141	0.584	B	0.41135	0.348	T	0.25467	-1.0131	9	0.26408	T	0.33	.	1.7552	0.02980	0.3043:0.2884:0.2932:0.114	.	466	Q9UK13	ZN221_HUMAN	Q	466	ENSP00000251269:E466Q	ENSP00000251269:E466Q	E	+	1	0	ZNF221	49162890	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-6.567000	0.00061	-1.648000	0.01510	0.313000	0.20887	GAG	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	G			44471050	+1	no_errors	ENST00000251269	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF236	7776	genome.wustl.edu	37	18	74637279	74637279	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:74637279G>T	ENST00000253159.8	+	22	3988	c.3790G>T	c.(3790-3792)Ggt>Tgt	p.G1264C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G1266C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1264					cellular response to glucose stimulus (GO:0071333)|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(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCGTACCTCGGGTAGAAGAAA	0.532																																																	0													53.0	56.0	55.0					18																	74637279		2020	4169	6189	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3790G>T	18.37:g.74637279G>T	ENSP00000253159:p.Gly1264Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1264C	ENST00000253159.8	37	c.3790	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477345	0.63849	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.61274	0.12;0.12	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120542	0.56097	D	0.000035	T	0.68311	0.2987	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.71941	-0.4440	10	0.87932	D	0	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	1264	Q9UL36	ZN236_HUMAN	C	1264	ENSP00000253159:G1264C;ENSP00000444524:G1264C	ENSP00000253159:G1264C	G	+	1	0	ZNF236	72766267	1.000000	0.71417	0.213000	0.23690	0.127000	0.20565	9.451000	0.97610	2.450000	0.82876	0.650000	0.86243	GGT	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74637279	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF267	10308	genome.wustl.edu	37	16	31927750	31927750	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:31927750C>G	ENST00000300870.10	+	4	2389	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	727					multicellular organismal development (GO:0007275)|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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GCCTTTAACTCTAGGTCATAC	0.383																																																	0													72.0	73.0	72.0					16																	31927750		2197	4300	6497	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2180C>G	16.37:g.31927750C>G	ENSP00000300870:p.Ser727Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNZ9|Q8NE41|Q9NRJ0	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.S727C	ENST00000300870.10	37	c.2180	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	3.431	-0.116129	0.06881	.	.	ENSG00000185947	ENST00000300870	T	0.30182	1.54	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	L	0.38175	1.15	0.09310	N	0.999999	B	0.16603	0.018	B	0.06405	0.002	T	0.22591	-1.0212	9	0.41790	T	0.15	.	3.123	0.06397	0.4753:0.5244:1.0E-4:1.0E-4	.	727	Q14586	ZN267_HUMAN	C	727	ENSP00000300870:S727C	ENSP00000300870:S727C	S	+	2	0	ZNF267	31835251	0.000000	0.05858	0.289000	0.24876	0.270000	0.26580	-2.375000	0.01071	0.308000	0.22923	0.313000	0.20887	TCT	ZNF267	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	C	NM_003414		31927750	+1	no_errors	ENST00000300870	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF273	10793	genome.wustl.edu	37	7	64388535	64388535	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:64388535C>G	ENST00000476120.1	+	4	900	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.L212V	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	277					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(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTCCTTAACTCTTACTAAACA	0.318																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													37.0	42.0	40.0					7																	64388535		2196	4297	6493	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.829C>G	7.37:g.64388535C>G	ENSP00000418719:p.Leu277Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQZ5|Q6P3V4	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.L277V	ENST00000476120.1	37	c.829	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	9.069	0.996470	0.19043	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.52983	0.64;0.64	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58481	0.2125	M	0.84511	2.7	0.09310	N	1	B	0.21147	0.052	B	0.42798	0.398	T	0.63028	-0.6728	9	0.72032	D	0.01	.	3.3363	0.07102	0.0:0.6898:0.0:0.3102	.	277	Q14593	ZN273_HUMAN	V	277;212	ENSP00000418719:L277V;ENSP00000324518:L212V	ENSP00000324518:L212V	L	+	1	0	ZNF273	64025970	0.134000	0.22483	0.051000	0.19133	0.051000	0.14879	0.362000	0.20284	0.202000	0.20498	0.205000	0.17691	CTT	ZNF273	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.318	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1	C			64388535	+1	no_errors	ENST00000476120	ensembl	human	known	70_37	missense	SNP	0.097	G
ZNF295-AS1	150142	genome.wustl.edu	37	21	43444361	43444361	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:43444361C>T	ENST00000596595.1	+	0	2170							Q8N0V1	ZNAS1_HUMAN	ZNF295 antisense RNA 1																		GTATGGGCTTCTTCCTTTCAT	0.443																																																	0																																												150142					21q22.3	2012-10-12	2012-08-15	2011-08-11	ENSG00000237232	ENSG00000237232		"""Long non-coding RNAs"""	23130	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 121"", ""non-protein coding RNA 318"", ""ZNF295 antisense RNA 1 (non-protein coding)"""	C21orf121, NCRNA00318			Standard	NR_119384		Approved	PRED87	uc011aeu.1	Q8N0V1	OTTHUMG00000086787		21.37:g.43444361C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000596595.1	37	NULL		21																																																																																			ZNF295-AS1	-	-		0.443	ZNF295-AS1-201	KNOWN	basic	lincRNA	ZNF295-AS1	HGNC	lincRNA		C	NR_027273		43444361	+1	no_errors	ENST00000596595	ensembl	human	known	70_37	rna	SNP	0.001	T
ZNF295-AS1	150142	genome.wustl.edu	37	21	43444818	43444818	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:43444818C>T	ENST00000596595.1	+	0	2627							Q8N0V1	ZNAS1_HUMAN	ZNF295 antisense RNA 1																		GGCCGACCCTCTCTCCACGGC	0.567																																																	0													74.0	74.0	74.0					21																	43444818		692	1591	2283			150142					21q22.3	2012-10-12	2012-08-15	2011-08-11	ENSG00000237232	ENSG00000237232		"""Long non-coding RNAs"""	23130	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 121"", ""non-protein coding RNA 318"", ""ZNF295 antisense RNA 1 (non-protein coding)"""	C21orf121, NCRNA00318			Standard	NR_119384		Approved	PRED87	uc011aeu.1	Q8N0V1	OTTHUMG00000086787		21.37:g.43444818C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000596595.1	37	NULL		21																																																																																			ZNF295-AS1	-	-		0.567	ZNF295-AS1-201	KNOWN	basic	lincRNA	ZNF295-AS1	HGNC	lincRNA		C	NR_027273		43444818	+1	no_errors	ENST00000412906	ensembl	human	known	70_37	rna	SNP	0.000	T
ZNF300	91975	genome.wustl.edu	37	5	150277651	150277651	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150277651C>G	ENST00000274599.5	-	5	658	c.238G>C	c.(238-240)Gat>Cat	p.D80H	ZNF300_ENST00000446148.2_Missense_Mutation_p.D96H|ZNF300_ENST00000394226.2_Missense_Mutation_p.D80H|ZNF300_ENST00000418587.2_Missense_Mutation_p.D44H|ZNF300_ENST00000427179.1_Missense_Mutation_p.D80H	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	80					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(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATATTCATCTGGATAGATC	0.368																																																	0													191.0	170.0	177.0					5																	150277651		2203	4300	6503	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.238G>C	5.37:g.150277651C>G	ENSP00000274599:p.Asp80His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	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.D96H	ENST00000274599.5	37	c.286	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191168	0.21954	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.10288	3.05;3.06;2.89;5.7;3.06	3.59	2.69	0.31865	.	.	.	.	.	T	0.08891	0.0220	L	0.46157	1.445	0.31214	N	0.698326	B	0.34015	0.435	B	0.26770	0.073	T	0.12889	-1.0530	9	0.21014	T	0.42	.	10.181	0.42968	0.2156:0.7844:0.0:0.0	.	80	Q96RE9	ZN300_HUMAN	H	96;80;44;80;80	ENSP00000397178:D96H;ENSP00000274599:D80H;ENSP00000392593:D44H;ENSP00000414195:D80H;ENSP00000377773:D80H	ENSP00000274599:D80H	D	-	1	0	ZNF300	150257844	0.733000	0.28132	0.887000	0.34795	0.920000	0.55202	1.581000	0.36558	0.813000	0.34350	0.563000	0.77884	GAT	ZNF300	-	NULL		0.368	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		C	NM_052860		150277651	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	0.992	G
ZNF300	91975	genome.wustl.edu	37	5	150277675	150277675	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150277675C>T	ENST00000274599.5	-	5	634	c.214G>A	c.(214-216)Gac>Aac	p.D72N	ZNF300_ENST00000446148.2_Missense_Mutation_p.D88N|ZNF300_ENST00000394226.2_Missense_Mutation_p.D72N|ZNF300_ENST00000418587.2_Missense_Mutation_p.D36N|ZNF300_ENST00000427179.1_Missense_Mutation_p.D72N	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGATATGTCTCCCTTTATG	0.383																																																	0													182.0	162.0	169.0					5																	150277675		2203	4300	6503	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.214G>A	5.37:g.150277675C>T	ENSP00000274599:p.Asp72Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	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.D88N	ENST00000274599.5	37	c.262	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269804	0.40095	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08193	3.18;3.19;3.12;5.85;3.19	3.49	1.66	0.24008	Krueppel-associated box (1);	.	.	.	.	T	0.06371	0.0164	N	0.21194	0.64	0.18873	N	0.999987	B	0.24186	0.099	B	0.24701	0.055	T	0.36456	-0.9747	9	0.72032	D	0.01	.	7.4476	0.27219	0.0:0.7758:0.0:0.2242	.	72	Q96RE9	ZN300_HUMAN	N	88;72;36;72;72	ENSP00000397178:D88N;ENSP00000274599:D72N;ENSP00000392593:D36N;ENSP00000414195:D72N;ENSP00000377773:D72N	ENSP00000274599:D72N	D	-	1	0	ZNF300	150257868	0.028000	0.19301	0.945000	0.38365	0.856000	0.48823	0.262000	0.18460	0.293000	0.22520	0.563000	0.77884	GAC	ZNF300	-	pfscan_Krueppel-associated_box		0.383	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		C	NM_052860		150277675	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	0.486	T
ZNF317	57693	genome.wustl.edu	37	19	9271850	9271850	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9271850C>T	ENST00000247956.6	+	7	1834	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	ZNF317_ENST00000360385.3_Missense_Mutation_p.A478V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	510					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGTGGCAAGGCCTTCAGGAAC	0.562																																																	0													81.0	68.0	72.0					19																	9271850		2203	4300	6503	SO:0001583	missense	57693			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1529C>T	19.37:g.9271850C>T	ENSP00000247956:p.Ala510Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	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.A510V	ENST00000247956.6	37	c.1529	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224230	0.39300	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.19105	2.17;2.17	2.72	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.347798	0.21126	N	0.079729	T	0.21227	0.0511	L	0.46819	1.47	0.27234	N	0.959338	B;B	0.29936	0.069;0.262	B;B	0.38921	0.023;0.285	T	0.20140	-1.0284	10	0.72032	D	0.01	-7.6482	7.4159	0.27044	0.0:0.7281:0.2719:0.0	.	478;510	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	V	510;478	ENSP00000247956:A510V;ENSP00000353554:A478V	ENSP00000247956:A510V	A	+	2	0	ZNF317	9132850	0.031000	0.19500	0.475000	0.27278	0.751000	0.42716	0.834000	0.27518	0.691000	0.31592	0.591000	0.81541	GCC	ZNF317	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	C	NM_020933		9271850	+1	no_errors	ENST00000247956	ensembl	human	known	70_37	missense	SNP	0.691	T
ZNF324B	388569	genome.wustl.edu	37	19	58966544	58966544	+	Intron	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58966544G>C	ENST00000336614.4	+	4	345				ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R68P	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTTTCTCTGCGTTTAGGTTCC	0.567																																																	0													76.0	81.0	80.0					19																	58966544		2203	4300	6503	SO:0001627	intron_variant	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.239-6G>C	19.37:g.58966544G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R68P	ENST00000336614.4	37	c.203	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.703313	0.00719	.	.	ENSG00000249471	ENST00000391696	T	0.08008	3.14	2.52	0.277	0.15668	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	7	.	.	.	.	4.4977	0.11848	0.0:0.3926:0.4545:0.1529	.	68	C9JTQ8	.	P	68	ENSP00000375578:R68P	.	R	+	2	0	ZNF324B	63658356	0.016000	0.18221	0.791000	0.31998	0.099000	0.18886	0.923000	0.28757	0.125000	0.18397	-0.350000	0.07774	CGT	ZNF324B	-	NULL		0.567	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	G	NM_207395		58966544	+1	no_errors	ENST00000391696	ensembl	human	known	70_37	missense	SNP	0.009	C
ZNF354C	30832	genome.wustl.edu	37	5	178506224	178506224	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:178506224G>C	ENST00000315475.6	+	5	1097	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	264					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(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTCATCAGAGAATTCATACT	0.388																																																	0													58.0	62.0	60.0					5																	178506224		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.791G>C	5.37:g.178506224G>C	ENSP00000324064:p.Arg264Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4P9|Q8NFX1	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.R264T	ENST00000315475.6	37	c.791	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494134	0.64186	.	.	ENSG00000177932	ENST00000315475	T	0.02421	4.3	3.7	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	M	0.78916	2.43	0.33945	D	0.643681	D	0.76494	0.999	D	0.67382	0.951	T	0.09596	-1.0667	9	0.62326	D	0.03	-19.838	10.4665	0.44611	0.0:0.0:0.8043:0.1957	.	264	Q86Y25	Z354C_HUMAN	T	264	ENSP00000324064:R264T	ENSP00000324064:R264T	R	+	2	0	ZNF354C	178438830	0.009000	0.17119	0.998000	0.56505	0.993000	0.82548	0.851000	0.27751	0.870000	0.35726	0.591000	0.81541	AGA	ZNF354C	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506224	+1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF383	163087	genome.wustl.edu	37	19	37734225	37734225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:37734225G>T	ENST00000589413.1	+	8	1670	c.1087G>T	c.(1087-1089)Gag>Tag	p.E363*	ZNF383_ENST00000590503.1_Nonsense_Mutation_p.E363*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.E363*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGTGAGAAACCCTA	0.433																																																	0													64.0	66.0	65.0					19																	37734225		2203	4300	6503	SO:0001587	stop_gained	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1087G>T	19.37:g.37734225G>T	ENSP00000464871:p.Glu363*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6X2C7	Nonsense_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.E363*	ENST00000589413.1	37	c.1087	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.826453	0.96996	.	.	ENSG00000188283	ENST00000352998	.	.	.	3.84	3.84	0.44239	.	0.000000	0.32258	N	0.006350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.6439	0.62270	0.0:0.0:1.0:0.0	.	.	.	.	X	363	.	ENSP00000340132:E363X	E	+	1	0	ZNF383	42426065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.057000	0.71119	2.136000	0.66102	0.563000	0.77884	GAG	ZNF383	-	pfscan_Znf_C2H2		0.433	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	G	NM_152604		37734225	+1	no_errors	ENST00000352998	ensembl	human	known	70_37	nonsense	SNP	0.998	T
ZNF394	84124	genome.wustl.edu	37	7	99097648	99097648	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:99097648C>T	ENST00000337673.6	-	1	272	c.69G>A	c.(67-69)gcG>gcA	p.A23A	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF394_ENST00000426306.2_Silent_p.A23A|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	23					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTGGACCTCGCAGCCATCA	0.632																																					Ovarian(24;589 697 9939 12704 40742)												0													50.0	53.0	52.0					7																	99097648		2203	4300	6503	SO:0001819	synonymous_variant	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.69G>A	7.37:g.99097648C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A23	ENST00000337673.6	37	c.69	CCDS5666.1	7																																																																																			ZNF394	-	NULL		0.632	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	C	NM_032164		99097648	-1	no_errors	ENST00000337673	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF408	79797	genome.wustl.edu	37	11	46726060	46726060	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:46726060G>A	ENST00000311764.2	+	5	1040	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCAGGCACAGATGCCACCTG	0.582																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													76.0	62.0	67.0					11																	46726060		2201	4299	6500	SO:0001819	synonymous_variant	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.810G>A	11.37:g.46726060G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q270	ENST00000311764.2	37	c.810	CCDS7923.1	11																																																																																			ZNF408	-	NULL		0.582	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	G	NM_024741		46726060	+1	no_errors	ENST00000311764	ensembl	human	known	70_37	silent	SNP	0.674	A
ZNF410	57862	genome.wustl.edu	37	14	74388869	74388869	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:74388869G>C	ENST00000555044.1	+	10	1424	c.1230G>C	c.(1228-1230)ttG>ttC	p.L410F	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.L337F|ZNF410_ENST00000324593.6_Intron|RP5-1021I20.5_ENST00000555916.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.L357F|ZNF410_ENST00000442160.3_Missense_Mutation_p.L427F	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	410					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(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GAGAGTCCTTGAACCTACCAA	0.463																																																	0													88.0	76.0	80.0					14																	74388869		2203	4300	6503	SO:0001583	missense	57862			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1230G>C	14.37:g.74388869G>C	ENSP00000451763:p.Leu410Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L410F	ENST00000555044.1	37	c.1230	CCDS9821.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.74|17.74	3.463105|3.463105	0.63513|0.63513	.|.	.|.	ENSG00000119725|ENSG00000119725	ENST00000557214|ENST00000540593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556179	.|T;T;T;T	.|0.10192	.|2.93;2.94;2.95;2.9	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.35207	.|N	.|0.003374	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.998;0.995;0.998;0.999;0.998	.|D;D;D;D;D	.|0.80764	.|0.991;0.979;0.986;0.994;0.986	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.59425	.|D	.|0.04	.|.	11.5918|11.5918	0.50949|0.50949	0.0836:0.0:0.9164:0.0|0.0836:0.0:0.9164:0.0	.|.	.|410;337;427;399;410	.|B2RCP6;B4DR78;B4DDV5;B4DPE9;Q86VK4	.|.;.;.;.;ZN410_HUMAN	Q|F	71|337;399;427;410;357;53	.|ENSP00000442228:L337F;ENSP00000407130:L427F;ENSP00000451763:L410F;ENSP00000334170:L357F	.|ENSP00000334170:L410F	E|L	+|+	1|3	0|2	ZNF410|ZNF410	73458622|73458622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.384000|4.384000	0.59607|0.59607	2.753000|2.753000	0.94483|0.94483	0.585000|0.585000	0.79938|0.79938	GAA|TTG	ZNF410	-	NULL		0.463	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	G	NM_021188		74388869	+1	no_errors	ENST00000555044	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF441	126068	genome.wustl.edu	37	19	11891039	11891039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11891039C>T	ENST00000357901.4	+	4	502	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.Q67*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGAGTATCAAGAATATGG	0.423																																																	0													109.0	93.0	99.0					19																	11891039		2203	4300	6503	SO:0001587	stop_gained	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.400C>T	19.37:g.11891039C>T	ENSP00000350576:p.Gln134*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_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.Q134*	ENST00000357901.4	37	c.400	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	c	17.30	3.355782	0.61293	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	.	.	.	1.22	0.0238	0.14139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9993	0.14257	0.0:0.6128:0.3872:0.0	.	.	.	.	X	90;134;67	.	ENSP00000350576:Q134X	Q	+	1	0	ZNF441	11752039	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	-0.715000	0.04997	0.049000	0.15920	0.305000	0.20034	CAA	ZNF441	-	NULL		0.423	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	C	NM_152355		11891039	+1	no_errors	ENST00000357901	ensembl	human	known	70_37	nonsense	SNP	0.001	T
ZNF441	126068	genome.wustl.edu	37	19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398																																																	0													147.0	139.0	142.0					19																	11891225		2203	4300	6503	SO:0001583	missense	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.586C>T	19.37:g.11891225C>T	ENSP00000350576:p.Arg196Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		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.R196C	ENST00000357901.4	37	c.586	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	c	5.030	0.191238	0.09547	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.14893	2.47;2.47	0.859	-0.235	0.13071	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04998	0.0134	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	9	0.66056	D	0.02	.	3.0451	0.06151	0.0:0.3062:0.0:0.6938	.	196	Q8N8Z8	ZN441_HUMAN	C	152;196;129	ENSP00000350576:R196C;ENSP00000403738:R129C	ENSP00000350576:R196C	R	+	1	0	ZNF441	11752225	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.022000	0.13511	-0.179000	0.10654	-0.979000	0.02580	CGT	ZNF441	-	pfscan_Znf_C2H2		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	C	NM_152355		11891225	+1	no_errors	ENST00000357901	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF440	126070	genome.wustl.edu	37	19	11942995	11942995	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11942995C>T	ENST00000304060.5	+	4	1168	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	335					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATTGCACTCTGGAGAAAGA	0.363																																																	0													64.0	65.0	64.0					19																	11942995		2203	4300	6503	SO:0001583	missense	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1004C>T	19.37:g.11942995C>T	ENSP00000305373:p.Ser335Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1R9	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.S335F	ENST00000304060.5	37	c.1004	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	12.14	1.849824	0.32699	.	.	ENSG00000171295	ENST00000304060	T	0.19806	2.12	0.91	-0.361	0.12564	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38852	0.1056	M	0.68593	2.085	0.21499	N	0.999663	D	0.76494	0.999	D	0.77557	0.99	T	0.16276	-1.0408	9	0.87932	D	0	.	7.6793	0.28505	0.0:0.7321:0.2679:0.0	.	335	Q8IYI8	ZN440_HUMAN	F	335	ENSP00000305373:S335F	ENSP00000305373:S335F	S	+	2	0	ZNF440	11803995	0.959000	0.32827	0.001000	0.08648	0.008000	0.06430	1.184000	0.32053	-0.056000	0.13221	0.205000	0.17691	TCT	ZNF440	-	pfscan_Znf_C2H2		0.363	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	C	NM_152357		11942995	+1	no_errors	ENST00000304060	ensembl	human	known	70_37	missense	SNP	0.980	T
ZNF443	10224	genome.wustl.edu	37	19	12542452	12542452	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:12542452G>A	ENST00000301547.5	-	4	731	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	178					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCAAAGAACTGAAGGACTTCC	0.423																																																	0													119.0	115.0	116.0					19																	12542452		2203	4300	6503	SO:0001819	synonymous_variant	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.534C>T	19.37:g.12542452G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		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.F178	ENST00000301547.5	37	c.534	CCDS32918.1	19																																																																																			ZNF443	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542452	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	silent	SNP	0.218	A
ZNF443	10224	genome.wustl.edu	37	19	12542517	12542517	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:12542517G>C	ENST00000301547.5	-	4	666	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	157					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCATGTGTTTGAAATGAGTTG	0.433																																																	0													184.0	168.0	173.0					19																	12542517		2203	4300	6503	SO:0001583	missense	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.469C>G	19.37:g.12542517G>C	ENSP00000301547:p.Gln157Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		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.Q157E	ENST00000301547.5	37	c.469	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526401	0.27299	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.18016	2.24	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14098	0.0341	L	0.41356	1.27	0.22435	N	0.999108	P	0.40681	0.727	P	0.45660	0.489	T	0.07673	-1.0760	9	0.02654	T	1	.	8.0804	0.30741	0.0:0.0:1.0:0.0	.	157	Q9Y2A4	ZN443_HUMAN	E	157	ENSP00000301547:Q157E	ENSP00000301547:Q157E	Q	-	1	0	ZNF443	12403517	0.000000	0.05858	0.191000	0.23289	0.161000	0.22273	-4.387000	0.00242	0.896000	0.36366	0.461000	0.40582	CAA	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542517	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	missense	SNP	0.985	C
ZNF43	7594	genome.wustl.edu	37	19	21992472	21992472	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:21992472C>G	ENST00000354959.4	-	4	536	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ZNF43_ENST00000595461.1_Missense_Mutation_p.E117Q|ZNF43_ENST00000598381.1_Missense_Mutation_p.E117Q|ZNF43_ENST00000594012.1_Missense_Mutation_p.E117Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	123					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCTTACACTCATCCACACTT	0.338																																																	0													82.0	81.0	81.0					19																	21992472		2203	4298	6501	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.367G>C	19.37:g.21992472C>G	ENSP00000347045:p.Glu123Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	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.E123Q	ENST00000354959.4	37	c.367	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	C	5.777	0.327641	0.10956	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05513	3.43	1.1	1.1	0.20463	.	.	.	.	.	T	0.24005	0.0581	H	0.94306	3.52	0.09310	N	1	D	0.63880	0.993	P	0.56343	0.796	T	0.14172	-1.0482	9	0.27785	T	0.31	.	9.0224	0.36209	0.0:1.0:0.0:0.0	.	123	P17038	ZNF43_HUMAN	Q	122;123	ENSP00000347045:E123Q	ENSP00000347045:E123Q	E	-	1	0	ZNF43	21784312	0.000000	0.05858	0.008000	0.14137	0.116000	0.19942	-0.255000	0.08769	0.538000	0.28769	0.305000	0.20034	GAG	ZNF43	-	NULL		0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	C	NM_003423		21992472	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	missense	SNP	0.003	G
ZNF418	147686	genome.wustl.edu	37	19	58438080	58438080	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58438080G>A	ENST00000396147.1	-	4	1760	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.S511L|ZNF418_ENST00000595830.1_Missense_Mutation_p.S490L|ZNF418_ENST00000599852.1_Missense_Mutation_p.S405L|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTCTTGAAATGATTTCCCACA	0.428																																																	0													142.0	145.0	144.0					19																	58438080		2201	4298	6499	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1469C>T	19.37:g.58438080G>A	ENSP00000379451:p.Ser490Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1S2|Q670L5|Q96N18	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.S490L	ENST00000396147.1	37	c.1469	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	7.806	0.714738	0.15306	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.08008	3.14;3.14	2.38	-3.77	0.04346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	M	0.75447	2.3	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.43540	-0.9385	9	0.72032	D	0.01	.	0.8446	0.01158	0.345:0.2645:0.2449:0.1456	.	490	Q8TF45	ZN418_HUMAN	L	490;511;456	ENSP00000379451:S490L;ENSP00000407039:S511L	ENSP00000379451:S490L	S	-	2	0	ZNF418	63129892	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.268000	0.01169	-0.936000	0.03723	-0.373000	0.07131	TCA	ZNF418	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58438080	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	missense	SNP	0.006	A
ZNF451	26036	genome.wustl.edu	37	6	56966866	56966866	+	Intron	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:56966866C>G	ENST00000370706.4	+	3	430				ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000370708.4_Missense_Mutation_p.S551C|ZNF451_ENST00000491832.2_Intron|ZNF451_ENST00000357489.3_Intron	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGGGAGACTCTCCAGAACGC	0.388																																																	0																																										SO:0001627	intron_variant	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.186+2927C>G	6.37:g.56966866C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	pfam_LAP2alpha	p.S551C	ENST00000370706.4	37	c.1652	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024941	0.54683	.	.	ENSG00000112200	ENST00000370708	T	0.70516	-0.49	4.4	4.4	0.53042	.	.	.	.	.	T	0.72153	0.3425	.	.	.	0.80722	D	1	D	0.59357	0.985	P	0.54629	0.757	T	0.75808	-0.3187	8	0.87932	D	0	.	12.8482	0.57842	0.0:1.0:0.0:0.0	.	551	Q9Y4E5-4	.	C	551	ENSP00000359742:S551C	ENSP00000359742:S551C	S	+	2	0	ZNF451	57074825	0.998000	0.40836	0.986000	0.45419	0.993000	0.82548	1.705000	0.37867	2.735000	0.93741	0.650000	0.86243	TCT	ZNF451	-	NULL		0.388	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	C	NM_015555		56966866	+1	no_errors	ENST00000370708	ensembl	human	known	70_37	missense	SNP	0.989	G
ZNF48	197407	genome.wustl.edu	37	16	30409619	30409619	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30409619C>T	ENST00000320159.2	+	2	1424	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	350					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(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTCAAACACCTCCGCACCCA	0.647																																																	0													99.0	71.0	81.0					16																	30409619		2197	4300	6497	SO:0001583	missense	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1048C>T	16.37:g.30409619C>T	ENSP00000324056:p.Leu350Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L350F	ENST00000320159.2	37	c.1048	CCDS10679.1	16	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888373	0.52014	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.20738	2.05	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36628	N	0.002484	T	0.39733	0.1089	L	0.46614	1.455	0.27704	N	0.945686	D	0.76494	0.999	D	0.73380	0.98	T	0.13548	-1.0505	10	0.72032	D	0.01	-12.2104	15.7385	0.77866	0.0:1.0:0.0:0.0	.	350	Q96MX3	ZNF48_HUMAN	F	475;350	ENSP00000324056:L350F	ENSP00000324056:L350F	L	+	1	0	ZNF48	30317120	0.109000	0.22037	1.000000	0.80357	0.900000	0.52787	0.898000	0.28404	2.575000	0.86900	0.460000	0.39030	CTC	ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409619	+1	no_errors	ENST00000320159	ensembl	human	known	70_37	missense	SNP	0.988	T
ZNF528	84436	genome.wustl.edu	37	19	52909190	52909190	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52909190G>C	ENST00000360465.3	+	5	472	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	ZNF528_ENST00000391788.2_Missense_Mutation_p.E6Q|ZNF528_ENST00000594530.1_Missense_Mutation_p.E16Q|ZNF528_ENST00000598192.1_Missense_Mutation_p.E16Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGTGGCCATAGAGTTCTCTCA	0.473																																																	0													191.0	187.0	189.0					19																	52909190		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.46G>C	19.37:g.52909190G>C	ENSP00000353652:p.Glu16Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPN4|Q86T88|Q96JK0	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.E16Q	ENST00000360465.3	37	c.46	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070540	0.20147	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465;ENST00000493272	T;T;T	0.01804	4.63;4.63;4.63	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.11965	0.0291	H	0.94847	3.59	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07927	-1.0747	9	0.59425	D	0.04	.	4.5152	0.11932	0.0:0.2448:0.5063:0.2489	.	16	Q3MIS6	ZN528_HUMAN	Q	6;16;16;6	ENSP00000375665:E6Q;ENSP00000375664:E16Q;ENSP00000353652:E16Q	ENSP00000353652:E16Q	E	+	1	0	ZNF528	57601002	0.097000	0.21791	0.008000	0.14137	0.173000	0.22820	1.207000	0.32333	1.141000	0.42275	0.491000	0.48974	GAG	ZNF528	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.473	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	G	NM_032423		52909190	+1	no_errors	ENST00000360465	ensembl	human	known	70_37	missense	SNP	0.066	C
ZNF528	84436	genome.wustl.edu	37	19	52909205	52909205	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52909205G>C	ENST00000360465.3	+	5	487	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	ZNF528_ENST00000391788.2_Missense_Mutation_p.E11Q|ZNF528_ENST00000594530.1_Missense_Mutation_p.E21Q|ZNF528_ENST00000598192.1_Missense_Mutation_p.E21Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTCTCAGGAAGAGTGGAAATG	0.483																																																	0													183.0	180.0	181.0					19																	52909205		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.61G>C	19.37:g.52909205G>C	ENSP00000353652:p.Glu21Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPN4|Q86T88|Q96JK0	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.E21Q	ENST00000360465.3	37	c.61	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539089	0.45176	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.11604	2.76;2.76;2.76	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.44953	0.1318	H	0.96833	3.89	0.24451	N	0.99448	D	0.89917	1.0	D	0.91635	0.999	T	0.38735	-0.9647	9	0.87932	D	0	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	21	Q3MIS6	ZN528_HUMAN	Q	11;21;21	ENSP00000375665:E11Q;ENSP00000375664:E21Q;ENSP00000353652:E21Q	ENSP00000353652:E21Q	E	+	1	0	ZNF528	57601017	1.000000	0.71417	0.105000	0.21289	0.515000	0.34225	0.789000	0.26886	1.141000	0.42275	0.491000	0.48974	GAG	ZNF528	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	G	NM_032423		52909205	+1	no_errors	ENST00000360465	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF532	55205	genome.wustl.edu	37	18	56651248	56651248	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:56651248C>G	ENST00000336078.4	+	11	4232	c.3456C>G	c.(3454-3456)ttC>ttG	p.F1152L	ZNF532_ENST00000591230.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000591808.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000589288.1_Missense_Mutation_p.F1152L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1152					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTCTGGAGTTCAGGCCTCCCC	0.488																																																	0													79.0	81.0	80.0					18																	56651248		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3456C>G	18.37:g.56651248C>G	ENSP00000338217:p.Phe1152Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F1152L	ENST00000336078.4	37	c.3456	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273358	0.23221	.	.	ENSG00000074657	ENST00000336078	T	0.01446	4.88	5.84	5.84	0.93424	.	0.167571	0.51477	D	0.000083	T	0.02342	0.0072	L	0.47190	1.495	0.41529	D	0.988447	P;B	0.38535	0.635;0.001	B;B	0.30855	0.121;0.002	T	0.64483	-0.6397	10	0.12430	T	0.62	-0.2316	19.7382	0.96215	0.0:1.0:0.0:0.0	.	1152;1152	B3KXW2;Q9HCE3	.;ZN532_HUMAN	L	1152	ENSP00000338217:F1152L	ENSP00000338217:F1152L	F	+	3	2	ZNF532	54802228	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.577000	0.53885	2.769000	0.95229	0.561000	0.74099	TTC	ZNF532	-	NULL		0.488	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	C	NM_018181		56651248	+1	no_errors	ENST00000336078	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF566	84924	genome.wustl.edu	37	19	36964289	36964289	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36964289C>T	ENST00000434377.2	-	3	162	c.81G>A	c.(79-81)caG>caA	p.Q27Q	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000424129.2_Silent_p.Q27Q|ZNF566_ENST00000454319.1_Silent_p.Q27Q|ZNF566_ENST00000392170.2_Silent_p.Q27Q|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ATAAATCTCTCTGATCATCAT	0.428																																																	0													164.0	150.0	155.0					19																	36964289		2203	4300	6503	SO:0001819	synonymous_variant	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.81G>A	19.37:g.36964289C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL95|Q2M3J1	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.Q27	ENST00000434377.2	37	c.81	CCDS12494.1	19																																																																																			ZNF566	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	C	NM_032838		36964289	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF566	84924	genome.wustl.edu	37	19	36964342	36964342	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36964342C>T	ENST00000434377.2	-	3	109	c.28G>A	c.(28-30)Gat>Aat	p.D10N	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000424129.2_Missense_Mutation_p.D10N|ZNF566_ENST00000454319.1_Missense_Mutation_p.D10N|ZNF566_ENST00000392170.2_Missense_Mutation_p.D10N|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ACGGACACATCACTGAACATC	0.378																																																	0													151.0	138.0	143.0					19																	36964342		2203	4300	6503	SO:0001583	missense	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.28G>A	19.37:g.36964342C>T	ENSP00000415520:p.Asp10Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL95|Q2M3J1	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.D10N	ENST00000434377.2	37	c.28	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420518	0.83559	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	4.61	4.61	0.57282	Krueppel-associated box (4);	0.000000	0.42964	D	0.000627	T	0.46014	0.1371	H	0.96604	3.85	0.31715	N	0.639031	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.67142	-0.5745	10	0.72032	D	0.01	.	12.8299	0.57740	0.0:1.0:0.0:0.0	.	10;10	B7ZL95;Q969W8	.;ZN566_HUMAN	N	10	ENSP00000394207:D10N;ENSP00000415520:D10N;ENSP00000376010:D10N;ENSP00000401259:D10N;ENSP00000411526:D10N;ENSP00000400651:D10N	ENSP00000376010:D10N	D	-	1	0	ZNF566	41656182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.402000	0.59722	2.390000	0.81377	0.650000	0.86243	GAT	ZNF566	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.378	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	C	NM_032838		36964342	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF566	84924	genome.wustl.edu	37	19	36964360	36964360	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36964360C>T	ENST00000434377.2	-	3	91	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000424129.2_Splice_Site_p.E4K|ZNF566_ENST00000454319.1_Splice_Site_p.E4K|ZNF566_ENST00000392170.2_Splice_Site_p.E4K|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	4					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(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ATCACTGACTCCTGGAACAAT	0.363																																																	0													128.0	119.0	122.0					19																	36964360		2203	4300	6503	SO:0001630	splice_region_variant	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.10-1G>A	19.37:g.36964360C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL95|Q2M3J1	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.E4K	ENST00000434377.2	37	c.10	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140949	0.37825	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59;5.59	4.89	4.89	0.63831	Krueppel-associated box (1);	0.178508	0.27219	N	0.020378	T	0.01222	0.0040	L	0.53671	1.685	0.28137	N	0.929979	P;P	0.37466	0.596;0.596	B;B	0.29785	0.107;0.107	T	0.50775	-0.8788	10	0.30854	T	0.27	.	13.4304	0.61051	0.0:1.0:0.0:0.0	.	4;4	B7ZL95;Q969W8	.;ZN566_HUMAN	K	4	ENSP00000394207:E4K;ENSP00000415520:E4K;ENSP00000376010:E4K;ENSP00000401259:E4K;ENSP00000411526:E4K;ENSP00000400651:E4K	ENSP00000376010:E4K	E	-	1	0	ZNF566	41656200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.996000	0.40776	2.537000	0.85549	0.650000	0.86243	GAG	ZNF566	-	superfamily_Krueppel-associated_box		0.363	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	C	NM_032838	Missense_Mutation	36964360	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF569	148266	genome.wustl.edu	37	19	37904387	37904387	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:37904387G>C	ENST00000316950.6	-	6	1730	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L	ZNF569_ENST00000392149.2_Missense_Mutation_p.F391L|ZNF569_ENST00000392150.2_Missense_Mutation_p.F232L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	391					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTTTGAGAGAAGGCTTTTC	0.388																																																	0													99.0	94.0	96.0					19																	37904387		2203	4300	6503	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1173C>G	19.37:g.37904387G>C	ENSP00000325018:p.Phe391Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S2|Q15925|Q17RR6|Q96MQ2	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.F391L	ENST00000316950.6	37	c.1173	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	G	15.60	2.883008	0.51908	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.46063	0.88;0.88	3.68	-0.811	0.10857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39475	N	0.001347	T	0.60830	0.2299	M	0.86805	2.84	0.34781	D	0.734706	D;P	0.53885	0.963;0.877	P;D	0.65684	0.876;0.937	T	0.68823	-0.5307	10	0.87932	D	0	.	8.3941	0.32546	0.4519:0.0:0.5481:0.0	.	232;391	Q17RR6;Q5MCW4	.;ZN569_HUMAN	L	391;47;232	ENSP00000325018:F391L;ENSP00000375993:F232L	ENSP00000325018:F391L	F	-	3	2	ZNF569	42596227	0.000000	0.05858	0.969000	0.41365	0.994000	0.84299	-0.294000	0.08309	-0.041000	0.13558	0.655000	0.94253	TTC	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	G	NM_152484		37904387	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.554	C
ZNF569	148266	genome.wustl.edu	37	19	37905078	37905078	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:37905078C>G	ENST00000316950.6	-	6	1039	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF569_ENST00000392149.2_Missense_Mutation_p.R161T|ZNF569_ENST00000392150.2_Missense_Mutation_p.R2T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	161					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGCTCCTTTCTCATAAGGCA	0.338																																																	0													85.0	82.0	83.0					19																	37905078		2203	4300	6503	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.482G>C	19.37:g.37905078C>G	ENSP00000325018:p.Arg161Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S2|Q15925|Q17RR6|Q96MQ2	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.R161T	ENST00000316950.6	37	c.482	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	0.491	-0.875583	0.02550	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.08896	3.22;3.04	3.37	-0.495	0.12030	.	0.980801	0.08257	N	0.973596	T	0.07143	0.0181	L	0.38175	1.15	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.005;0.003	T	0.40440	-0.9563	10	0.45353	T	0.12	.	6.2635	0.20913	0.0:0.5124:0.3759:0.1118	.	2;161	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	161;2	ENSP00000325018:R161T;ENSP00000375993:R2T	ENSP00000325018:R161T	R	-	2	0	ZNF569	42596918	0.001000	0.12720	0.007000	0.13788	0.897000	0.52465	0.116000	0.15561	-0.072000	0.12864	0.591000	0.81541	AGA	ZNF569	-	NULL		0.338	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	C	NM_152484		37905078	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.138	G
ZNF578	147660	genome.wustl.edu	37	19	53014382	53014382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:53014382C>T	ENST00000421239.2	+	6	992	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q250*(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGGAAACATCAGATAATCCA	0.353																																																	1	Substitution - Nonsense(1)	lung(1)											74.0	79.0	77.0					19																	53014382		2201	4297	6498	SO:0001587	stop_gained	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.748C>T	19.37:g.53014382C>T	ENSP00000459216:p.Gln250*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR51|I3L1Y6	Nonsense_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.Q250*	ENST00000421239.2	37	c.748	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	16.38	3.108158	0.56291	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0853	0.25254	0.0:0.7148:0.2852:0.0	.	.	.	.	X	250	.	.	Q	+	1	0	ZNF578	57706194	0.000000	0.05858	0.016000	0.15963	0.143000	0.21401	-0.950000	0.03889	0.835000	0.34877	0.297000	0.19635	CAG	ZNF578	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		53014382	+1	no_errors	ENST00000421239	ensembl	human	known	70_37	nonsense	SNP	0.130	T
ZNF550	162972	genome.wustl.edu	37	19	58058582	58058582	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58058582C>T	ENST00000457177.1	-	4	1210	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	ZNF550_ENST00000325134.5_Missense_Mutation_p.D312N|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.D303N			Q7Z398	ZN550_HUMAN	zinc finger protein 550	344					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)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCATGCAATCATAGGGCTTC	0.483																																																	0													104.0	97.0	99.0					19																	58058582		2203	4300	6503	SO:0001583	missense	162972			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1030G>A	19.37:g.58058582C>T	ENSP00000469679:p.Asp344Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVF6|O43337|Q7Z6D7|Q8NE45	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.D344N	ENST00000457177.1	37	c.1030		19	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837033	0.32421	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.35789	1.29;1.29	3.33	3.33	0.38152	.	.	.	.	.	T	0.25644	0.0624	N	0.21448	0.665	0.09310	N	1	B	0.29037	0.231	B	0.24848	0.056	T	0.18366	-1.0339	9	0.56958	D	0.05	-3.6461	12.013	0.53299	0.0:1.0:0.0:0.0	.	312	Q7Z398-2	.	N	344;312;303	ENSP00000446224:D312N;ENSP00000422344:D303N	ENSP00000446224:D312N	D	-	1	0	AC003682.1	62750394	0.000000	0.05858	0.124000	0.21820	0.984000	0.73092	-1.539000	0.02202	1.863000	0.54032	0.643000	0.83706	GAT	ZNF550	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ZNF550	HGNC	protein_coding	OTTHUMT00000257992.2	C	NM_153231		58058582	-1	no_errors	ENST00000376230	ensembl	human	known	70_37	missense	SNP	0.004	T
ZNF587	84914	genome.wustl.edu	37	19	58370157	58370157	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58370157G>T	ENST00000339656.5	+	3	559	c.377G>T	c.(376-378)gGa>gTa	p.G126V	ZNF587_ENST00000419854.1_Missense_Mutation_p.G83V|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_3'UTR|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.G125V|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.G126V|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGAGCATGTGGAAAAAACTTG	0.448																																					Pancreas(59;641 1233 1885 20055 50741)												0													9.0	11.0	10.0					19																	58370157		1891	3868	5759	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.377G>T	19.37:g.58370157G>T	ENSP00000345479:p.Gly126Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV72|G3V0H5|Q6ZMK8	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.G126V	ENST00000339656.5	37	c.377	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	9.510	1.105430	0.20632	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.37235	1.21;1.21;1.21	1.4	-1.53	0.08611	Zinc finger, C2H2 (1);	.	.	.	.	T	0.35158	0.0922	M	0.78223	2.4	0.28034	N	0.9340040000000001	B;P	0.35923	0.41;0.528	B;B	0.37780	0.122;0.258	T	0.39702	-0.9601	8	0.54805	T	0.06	.	3.9434	0.09338	0.1851:0.2471:0.5678:0.0	.	125;126	G3V0H5;Q96SQ5	.;ZN587_HUMAN	V	83;125;126;126;83	ENSP00000393865:G125V;ENSP00000345479:G126V;ENSP00000406999:G83V	ENSP00000345479:G126V	G	+	2	0	ZNF587	63061969	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.172000	0.09868	-0.330000	0.08514	0.195000	0.17529	GGA	ZNF587	-	pfscan_Znf_C2H2		0.448	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	G	NM_032828		58370157	+1	no_errors	ENST00000339656	ensembl	human	known	70_37	missense	SNP	0.009	T
ZNF594	84622	genome.wustl.edu	37	17	5087312	5087312	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:5087312C>G	ENST00000399604.4	-	1	380	c.240G>C	c.(238-240)gaG>gaC	p.E80D	ZNF594_ENST00000575779.1_Missense_Mutation_p.E80D			Q96JF6	ZN594_HUMAN	zinc finger protein 594	80					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(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATGGCCAATCTCTCCCACAA	0.443																																																	0													123.0	114.0	117.0					17																	5087312		1857	4109	5966	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.240G>C	17.37:g.5087312C>G	ENSP00000382513:p.Glu80Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E80D	ENST00000399604.4	37	c.240	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	2.215	-0.379709	0.05000	.	.	ENSG00000180626	ENST00000399604	T	0.09445	2.98	2.19	-0.0224	0.13948	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.15052	0.012	T	0.37731	-0.9693	9	0.59425	D	0.04	.	4.5829	0.12267	0.0:0.6069:0.2361:0.157	.	80	Q96JF6	ZN594_HUMAN	D	80	ENSP00000382513:E80D	ENSP00000382513:E80D	E	-	3	2	ZNF594	5028036	0.001000	0.12720	0.061000	0.19648	0.040000	0.13550	0.077000	0.14738	0.235000	0.21160	0.455000	0.32223	GAG	ZNF594	-	NULL		0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5087312	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	missense	SNP	0.003	G
ZNF597	146434	genome.wustl.edu	37	16	3487266	3487266	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3487266G>C	ENST00000301744.4	-	4	668	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	145					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)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GGAGAATCAAGAATTTCAGAA	0.388																																																	0													142.0	144.0	143.0					16																	3487266		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.433C>G	16.37:g.3487266G>C	ENSP00000301744:p.Leu145Val	Somatic		WXS	Illumina HiSeq	Phase_IV		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	p.L145V	ENST00000301744.4	37	c.433	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111597	0.01813	.	.	ENSG00000167981	ENST00000301744	T	0.07021	3.23	4.91	0.392	0.16288	.	0.361223	0.20469	N	0.091730	T	0.03827	0.0108	L	0.36672	1.1	0.21290	N	0.999731	P	0.39282	0.666	B	0.29440	0.102	T	0.39231	-0.9624	10	0.14656	T	0.56	-3.4346	3.0485	0.06161	0.2971:0.0:0.4449:0.2581	.	145	Q96LX8	ZN597_HUMAN	V	145	ENSP00000301744:L145V	ENSP00000301744:L145V	L	-	1	0	ZNF597	3427267	.	.	0.708000	0.30435	0.787000	0.44495	.	.	0.232000	0.21100	0.655000	0.94253	CTT	ZNF597	-	NULL		0.388	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	G	NM_152457		3487266	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.666	C
ZNF597	146434	genome.wustl.edu	37	16	3487371	3487371	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3487371G>C	ENST00000301744.4	-	4	563	c.328C>G	c.(328-330)Ccc>Gcc	p.P110A		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	110					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)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTGTAAGTGGGAGTTCCACTT	0.428																																																	0													134.0	136.0	135.0					16																	3487371		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.328C>G	16.37:g.3487371G>C	ENSP00000301744:p.Pro110Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		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	p.P110A	ENST00000301744.4	37	c.328	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642306	0.03531	.	.	ENSG00000167981	ENST00000301744	T	0.07444	3.19	4.9	-1.58	0.08479	.	0.959793	0.08564	N	0.927130	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.46303	-0.9201	10	0.08837	T	0.75	0.0	9.7287	0.40348	0.4211:0.0:0.5789:0.0	.	110	Q96LX8	ZN597_HUMAN	A	110	ENSP00000301744:P110A	ENSP00000301744:P110A	P	-	1	0	ZNF597	3427372	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	-0.150000	0.10189	-0.391000	0.07763	0.650000	0.86243	CCC	ZNF597	-	NULL		0.428	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	G	NM_152457		3487371	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF599	148103	genome.wustl.edu	37	19	35250490	35250490	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:35250490G>A	ENST00000329285.8	-	4	1589	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	406					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAGCGATGAGTAAAGGCC	0.473																																																	0													68.0	67.0	67.0					19																	35250490		2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1216C>T	19.37:g.35250490G>A	ENSP00000333802:p.His406Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569K0|Q5PRG1	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.H406Y	ENST00000329285.8	37	c.1216	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462365	0.43736	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.06528	3.29	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.04297	-0.235	0.80722	D	1	P	0.48162	0.906	P	0.54060	0.741	T	0.41448	-0.9508	9	0.02654	T	1	.	8.6882	0.34251	0.0:0.0:1.0:0.0	.	406	Q96NL3	ZN599_HUMAN	Y	405;406;180	ENSP00000333802:H406Y	ENSP00000333802:H406Y	H	-	1	0	ZNF599	39942330	0.000000	0.05858	0.716000	0.30569	0.964000	0.63967	-0.701000	0.05075	1.735000	0.51646	0.491000	0.48974	CAT	ZNF599	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	G	XM_086046		35250490	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	missense	SNP	0.977	A
ZNF613	79898	genome.wustl.edu	37	19	52447781	52447781	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52447781G>C	ENST00000293471.6	+	6	1324	c.645G>C	c.(643-645)aaG>aaC	p.K215N	ZNF613_ENST00000391794.4_Missense_Mutation_p.K179N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	215					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(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTTCCTCAAGAAGTCTCGCC	0.443																																																	0													179.0	186.0	184.0					19																	52447781		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.645G>C	19.37:g.52447781G>C	ENSP00000293471:p.Lys215Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96SS9	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.K215N	ENST00000293471.6	37	c.645	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838759	0.16891	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.27890	1.64;1.64	3.0	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.582694	0.14391	N	0.322499	T	0.29158	0.0725	N	0.12502	0.225	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08617	-1.0713	10	0.62326	D	0.03	.	2.9359	0.05815	0.2496:0.0:0.537:0.2134	.	215	Q6PF04	ZN613_HUMAN	N	215;179	ENSP00000293471:K215N;ENSP00000375671:K179N	ENSP00000293471:K215N	K	+	3	2	ZNF613	57139593	0.000000	0.05858	0.997000	0.53966	0.223000	0.24884	-2.282000	0.01156	0.141000	0.18875	-1.056000	0.02311	AAG	ZNF613	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52447781	+1	no_errors	ENST00000293471	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF614	80110	genome.wustl.edu	37	19	52519812	52519812	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52519812C>G	ENST00000270649.6	-	5	1583	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	347					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(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTCCACATTCACTGCATATA	0.423																																																	0													124.0	115.0	118.0					19																	52519812		2203	4300	6503	SO:0001583	missense	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1039G>C	19.37:g.52519812C>G	ENSP00000270649:p.Glu347Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q494T8|Q8TCF4|Q9BSN8	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.E347Q	ENST00000270649.6	37	c.1039	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745755	0.49151	.	.	ENSG00000142556	ENST00000270649	T	0.07444	3.19	3.8	0.0608	0.14337	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	N	0.12422	0.21	0.09310	N	1	D	0.59357	0.985	P	0.54431	0.752	T	0.37430	-0.9706	9	0.46703	T	0.11	.	7.6489	0.28337	0.0:0.6614:0.1487:0.1899	.	347	Q8N883	ZN614_HUMAN	Q	347	ENSP00000270649:E347Q	ENSP00000270649:E347Q	E	-	1	0	ZNF614	57211624	0.000000	0.05858	0.412000	0.26496	0.998000	0.95712	-1.493000	0.02298	0.281000	0.22233	0.655000	0.94253	GAA	ZNF614	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1	C	NM_025040		52519812	-1	no_errors	ENST00000270649	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF616	90317	genome.wustl.edu	37	19	52618221	52618221	+	Silent	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52618221G>A	ENST00000600228.1	-	4	2457	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	732					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)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTGTTTGCTGAGGGAAAACA	0.393																																																	0													130.0	132.0	131.0					19																	52618221		2203	4300	6503	SO:0001819	synonymous_variant	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2196C>T	19.37:g.52618221G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRV1|Q0P658|Q658V7	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.L732	ENST00000600228.1	37	c.2196	CCDS33090.1	19																																																																																			ZNF616	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	G	XM_030892		52618221	-1	no_errors	ENST00000600228	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF658	26149	genome.wustl.edu	37	9	40773898	40773898	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:40773898C>G	ENST00000602553.1	-	5	1671	c.1377G>C	c.(1375-1377)ctG>ctC	p.L459L	ZNF658_ENST00000377626.3_Silent_p.L459L|ZNF658_ENST00000441795.1_Silent_p.L457L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	459					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)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGAATTCTCAGATGTTTAC	0.398																																																	0													16.0	17.0	16.0					9																	40773898		1887	4004	5891	SO:0001819	synonymous_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1377G>C	9.37:g.40773898C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.L459	ENST00000602553.1	37	c.1377	CCDS35023.1	9																																																																																			ZNF658	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	C	NM_033160		40773898	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	silent	SNP	0.595	G
ZNF668	79759	genome.wustl.edu	37	16	31075701	31075701	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:31075701C>G	ENST00000538906.1	-	2	864	c.80G>C	c.(79-81)tGt>tCt	p.C27S	ZNF668_ENST00000300849.4_Missense_Mutation_p.C27S|ZNF668_ENST00000394983.2_Missense_Mutation_p.C27S|ZNF668_ENST00000539836.3_Missense_Mutation_p.C50S|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.C50S|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000535577.1_Missense_Mutation_p.C27S	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	27					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)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGTCTTGGTACAGGACACGCA	0.657																																					Colon(181;1111 1980 5060 10512 25785)												0													49.0	54.0	52.0					16																	31075701		2197	4298	6495	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.80G>C	16.37:g.31075701C>G	ENSP00000440149:p.Cys27Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C50S	ENST00000538906.1	37	c.149	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270643	0.80469	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.70164	1.06;1.06;1.06;1.06;1.06;-0.46;2.53;0.29	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	N	0.24115	0.695	0.47905	D	0.999544	D	0.76494	0.999	D	0.85130	0.997	T	0.76438	-0.2959	10	0.72032	D	0.01	-12.7081	16.6644	0.85248	0.0:1.0:0.0:0.0	.	27	Q96K58	ZN668_HUMAN	S	50;27;27;27;27;27;27;27;27	ENSP00000442573:C50S;ENSP00000441349:C27S;ENSP00000440149:C27S;ENSP00000378434:C27S;ENSP00000300849:C27S;ENSP00000412340:C27S;ENSP00000416853:C27S;ENSP00000390671:C27S	ENSP00000300849:C27S	C	-	2	0	ZNF668	30983202	0.441000	0.25626	1.000000	0.80357	0.958000	0.62258	1.791000	0.38744	2.456000	0.83038	0.462000	0.41574	TGT	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	C	NM_024706		31075701	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF675	171392	genome.wustl.edu	37	19	23837002	23837002	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:23837002C>T	ENST00000359788.4	-	4	901	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	245					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTTATATTCAGTAAGGTTT	0.318																																																	0													57.0	61.0	60.0					19																	23837002		2202	4296	6498	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.733G>A	19.37:g.23837002C>T	ENSP00000352836:p.Glu245Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N211	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.E245K	ENST00000359788.4	37	c.733	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.451014	0.00175	.	.	ENSG00000197372	ENST00000359788	T	0.35973	1.28	0.916	0.916	0.19373	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	N	0.05177	-0.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	9	0.02654	T	1	.	1.8253	0.03119	0.3217:0.4326:0.0:0.2457	.	245	Q8TD23	ZN675_HUMAN	K	245	ENSP00000352836:E245K	ENSP00000352836:E245K	E	-	1	0	ZNF675	23628842	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-5.856000	0.00094	0.300000	0.22699	0.305000	0.20034	GAA	ZNF675	-	pfscan_Znf_C2H2		0.318	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	C	NM_138330		23837002	-1	no_errors	ENST00000359788	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF688	146542	genome.wustl.edu	37	16	30582364	30582364	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30582364C>G	ENST00000223459.6	-	2	1381	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.E79Q|ZNF688_ENST00000563707.1_Intron|ZNF688_ENST00000567855.1_Missense_Mutation_p.E93Q	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCCCCTTCTCAGGATCCTGG	0.592																																																	0													37.0	39.0	38.0					16																	30582364		2197	4300	6497	SO:0001583	missense	146542			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.277G>C	16.37:g.30582364C>G	ENSP00000223459:p.Glu93Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E93Q	ENST00000223459.6	37	c.277	CCDS10684.1	16	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323221	0.60634	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04360	3.64;3.95	5.2	4.24	0.50183	Krueppel-associated box (1);	.	.	.	.	T	0.06280	0.0162	N	0.12637	0.245	0.31840	N	0.623631	D;D	0.58268	0.967;0.982	P;P	0.55112	0.544;0.769	T	0.31861	-0.9928	9	0.30078	T	0.28	.	11.3083	0.49349	0.1815:0.8185:0.0:0.0	.	93;79	P0C7X2;A8MV39	ZN688_HUMAN;.	Q	79;93	ENSP00000378645:E79Q;ENSP00000223459:E93Q	ENSP00000223459:E93Q	E	-	1	0	ZNF688	30489865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.016000	0.29976	1.541000	0.49316	0.655000	0.94253	GAG	ZNF688	-	pfscan_Krueppel-associated_box		0.592	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	C	NM_145271		30582364	-1	no_errors	ENST00000223459	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF689	115509	genome.wustl.edu	37	16	30615816	30615816	+	Silent	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30615816C>T	ENST00000287461.3	-	3	1609	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	ZNF689_ENST00000566673.1_5'Flank|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	424					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCCGCTCGCCCGAGTGCACGC	0.662																																																	0													19.0	16.0	17.0					16																	30615816		2191	4297	6488	SO:0001819	synonymous_variant	115509			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1272G>A	16.37:g.30615816C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q658J5	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.S424	ENST00000287461.3	37	c.1272	CCDS10686.1	16																																																																																			ZNF689	-	pfscan_Znf_C2H2		0.662	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	C	NM_138447		30615816	-1	no_errors	ENST00000287461	ensembl	human	known	70_37	silent	SNP	0.207	T
ZNF692	55657	genome.wustl.edu	37	1	249150111	249150111	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:249150111G>A	ENST00000306601.4	-	7	860	c.694C>T	c.(694-696)Cct>Tct	p.P232S	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.P187S|ZNF692_ENST00000366469.5_Missense_Mutation_p.P231S|ZNF692_ENST00000451251.1_Missense_Mutation_p.P237S|ZNF692_ENST00000427146.1_Missense_Mutation_p.P187S	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	232					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(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGGTGACAGGGGAAGGCAGT	0.572																																																	0													48.0	50.0	49.0					1																	249150111		2203	4300	6503	SO:0001583	missense	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.694C>T	1.37:g.249150111G>A	ENSP00000305483:p.Pro232Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P237S	ENST00000306601.4	37	c.709	CCDS31127.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.45|13.45	2.240296|2.240296	0.39598|0.39598	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	.|T;T;T;T;T	.|0.08458	.|3.13;3.19;3.19;3.09;3.12	4.55|4.55	2.66|2.66	0.31614|0.31614	.|.	0.471029|0.471029	0.19890|0.19890	N|N	0.103756|0.103756	T|T	0.08133|0.08133	0.0203|0.0203	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B	.|0.20261	.|0.025;0.043;0.025	.|B;B;B	.|0.17098	.|0.008;0.017;0.008	T|T	0.19811|0.19811	-1.0294|-1.0294	6|10	.|0.52906	.|T	.|0.07	-1.41|-1.41	6.2954|6.2954	0.21083|0.21083	0.2195:0.0:0.7805:0.0|0.2195:0.0:0.7805:0.0	.|.	.|237;187;232	.|B4DXZ0;Q9BU19-2;Q9BU19	.|.;.;ZN692_HUMAN	L|S	11|232;187;187;231;237	.|ENSP00000305483:P232S;ENSP00000390044:P187S;ENSP00000355427:P187S;ENSP00000355425:P231S;ENSP00000391200:P237S	.|ENSP00000305483:P232S	P|P	-|-	2|1	0|0	ZNF692|ZNF692	247116734|247116734	0.051000|0.051000	0.20477|0.20477	0.734000|0.734000	0.30879|0.30879	0.221000|0.221000	0.24807|0.24807	0.957000|0.957000	0.29215|0.29215	1.276000|1.276000	0.44395|0.44395	0.462000|0.462000	0.41574|0.41574	CCC|CCT	ZNF692	-	NULL		0.572	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	G	NM_017865		249150111	-1	no_errors	ENST00000451251	ensembl	human	known	70_37	missense	SNP	0.119	A
ALG1L9P	285407	genome.wustl.edu	37	11	71527078	71527078	+	RNA	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:71527078G>A	ENST00000508969.2	-	0	0				ZNF705E_ENST00000525199.1_RNA	NR_073387.1																						TTTTAACACTGAATGCAGAGT	0.308																																																	0																																												100131539																															11.37:g.71527078G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000508969.2	37	NULL		11																																																																																			ZNF705E	-	-		0.308	CTD-2313N18.5-002	KNOWN	basic	processed_transcript	ZNF705E	HGNC	processed_transcript	OTTHUMT00000394764.1	G			71527078	-1	no_errors	ENST00000525199	ensembl	human	known	70_37	rna	SNP	0.002	A
ZNF729	100287226	genome.wustl.edu	37	19	22487564	22487564	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:22487564G>C	ENST00000601693.1	+	3	350	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	ZNF729_ENST00000357491.6_Missense_Mutation_p.E78Q			A6NN14	ZN729_HUMAN	zinc finger protein 729	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						GAAGAGACATGAGATGGTAAC	0.393																																																	0																																										SO:0001583	missense	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.232G>C	19.37:g.22487564G>C	ENSP00000469582:p.Glu78Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QY45	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.E78Q	ENST00000601693.1	37	c.232	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	7.698	0.692515	0.15039	.	.	ENSG00000196350	ENST00000357491	T	0.07114	3.22	0.824	-0.463	0.12164	.	.	.	.	.	T	0.06962	0.0177	L	0.45698	1.435	.	.	.	.	.	.	.	.	.	T	0.38156	-0.9674	6	0.14656	T	0.56	.	2.6643	0.05035	0.4709:0.0:0.5291:0.0	.	.	.	.	Q	78	ENSP00000350085:E78Q	ENSP00000350085:E78Q	E	+	1	0	ZNF729	22279404	0.933000	0.31639	0.551000	0.28230	0.567000	0.35839	0.103000	0.15292	0.192000	0.20272	0.195000	0.17529	GAG	ZNF729	-	pfscan_Krueppel-associated_box		0.393	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	G	XM_496301		22487564	+1	no_errors	ENST00000601693	ensembl	human	novel	70_37	missense	SNP	0.057	C
ZNF729	100287226	genome.wustl.edu	37	19	22497953	22497953	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:22497953C>G	ENST00000601693.1	+	4	1852	c.1734C>G	c.(1732-1734)ggC>ggG	p.G578G	ZNF729_ENST00000357491.6_Silent_p.G578G			A6NN14	ZN729_HUMAN	zinc finger protein 729	578					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						AAGAATGTGGCAAAGCTTTTA	0.348																																																	0																																										SO:0001819	synonymous_variant	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1734C>G	19.37:g.22497953C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	M0QY45	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.G578	ENST00000601693.1	37	c.1734	CCDS59368.1	19																																																																																			ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	C	XM_496301		22497953	+1	no_errors	ENST00000601693	ensembl	human	novel	70_37	silent	SNP	0.998	G
ZNF750	79755	genome.wustl.edu	37	17	80790161	80790161	+	Nonsense_Mutation	SNP	G	G	C			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:80790161G>C	ENST00000269394.3	-	2	1003	c.170C>G	c.(169-171)tCa>tGa	p.S57*	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	57					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCCTGCTCTGATACTAAAGT	0.428																																																	0													124.0	111.0	115.0					17																	80790161		2203	4300	6503	SO:0001587	stop_gained	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.170C>G	17.37:g.80790161G>C	ENSP00000269394:p.Ser57*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H899	Nonsense_Mutation	SNP	NULL	p.S57*	ENST00000269394.3	37	c.170	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.794632	0.99266	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.86	5.86	0.93980	.	0.107915	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.7913	19.1589	0.93524	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	.	S	-	2	0	ZNF750	78383450	1.000000	0.71417	0.390000	0.26220	0.551000	0.35334	9.285000	0.95894	2.773000	0.95371	0.655000	0.94253	TCA	ZNF750	-	NULL		0.428	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80790161	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	nonsense	SNP	0.995	C
ZNF764	92595	genome.wustl.edu	37	16	30567088	30567088	+	Silent	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30567088C>G	ENST00000252797.2	-	3	734	c.654G>C	c.(652-654)ctG>ctC	p.L218L	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Silent_p.L217L	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGTGTTTGCTCAGGGAGGAAG	0.677																																																	0													22.0	23.0	23.0					16																	30567088		2196	4298	6494	SO:0001819	synonymous_variant	92595			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.654G>C	16.37:g.30567088C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZF4|B3KSN2|H9KV99|Q9BWS1	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.L218	ENST00000252797.2	37	c.654	CCDS10683.1	16																																																																																			ZNF764	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF764	HGNC	protein_coding	OTTHUMT00000255541.1	C	NM_033410		30567088	-1	no_errors	ENST00000252797	ensembl	human	known	70_37	silent	SNP	0.996	G
ZNF804A	91752	genome.wustl.edu	37	2	185803649	185803649	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:185803649G>A	ENST00000302277.6	+	4	4120	c.3526G>A	c.(3526-3528)Gtt>Att	p.V1176I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1176							metal ion binding (GO:0046872)	p.V1176I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCCAGCTTCCGTTCTTCATCC	0.507																																																	1	Substitution - Missense(1)	lung(1)											259.0	224.0	236.0					2																	185803649		2203	4300	6503	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3526G>A	2.37:g.185803649G>A	ENSP00000303252:p.Val1176Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.V1176I	ENST00000302277.6	37	c.3526	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199722	0.38905	.	.	ENSG00000170396	ENST00000302277	T	0.06528	3.29	5.03	5.03	0.67393	.	0.000000	0.43919	D	0.000514	T	0.17109	0.0411	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	P	0.58130	0.833	T	0.02075	-1.1218	10	0.51188	T	0.08	-14.0148	14.6279	0.68635	0.0:0.1461:0.8539:0.0	.	1176	Q7Z570	Z804A_HUMAN	I	1176	ENSP00000303252:V1176I	ENSP00000303252:V1176I	V	+	1	0	ZNF804A	185511894	0.991000	0.36638	0.659000	0.29680	0.674000	0.39518	3.832000	0.55783	2.322000	0.78497	0.313000	0.20887	GTT	ZNF804A	-	NULL		0.507	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	G	NM_194250		185803649	+1	no_errors	ENST00000302277	ensembl	human	known	70_37	missense	SNP	0.105	A
ZNF81	347344	genome.wustl.edu	37	X	47755275	47755275	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:47755275C>G	ENST00000376954.1	+	5	581	c.213C>G	c.(211-213)ttC>ttG	p.F71L	ZNF81_ENST00000338637.7_Missense_Mutation_p.F71L			P51508	ZNF81_HUMAN	zinc finger protein 81	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGGTCATCTTCAAGTTGGAGC	0.502																																																	0													78.0	74.0	76.0					X																	47755275		2203	4300	6503	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.213C>G	X.37:g.47755275C>G	ENSP00000366153:p.Phe71Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6RX22|Q96QH6	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.F71L	ENST00000376954.1	37	c.213	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603552	0.28534	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000376950;ENST00000399918	T;T;T	0.45276	0.9;0.9;0.9	4.06	2.25	0.28309	Krueppel-associated box (3);	0.156649	0.30356	N	0.009802	T	0.20981	0.0505	N	0.25485	0.75	0.22656	N	0.998881	P	0.38767	0.646	B	0.31101	0.124	T	0.11518	-1.0584	10	0.22706	T	0.39	.	6.0608	0.19837	0.0:0.7494:0.0:0.2506	.	71	P51508	ZNF81_HUMAN	L	71	ENSP00000366153:F71L;ENSP00000341151:F71L;ENSP00000366149:F71L	ENSP00000341151:F71L	F	+	3	2	ZNF81	47640219	0.984000	0.35163	0.998000	0.56505	0.837000	0.47467	0.110000	0.15437	0.318000	0.23185	0.594000	0.82650	TTC	ZNF81	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	C	NM_007137		47755275	+1	no_errors	ENST00000338637	ensembl	human	known	70_37	missense	SNP	0.998	G
ZNF91	7644	genome.wustl.edu	37	19	23542574	23542574	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:23542574C>G	ENST00000300619.7	-	4	3412	c.3207G>C	c.(3205-3207)aaG>aaC	p.K1069N	ZNF91_ENST00000397082.2_Missense_Mutation_p.K1037N|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1069					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTCTCTTATGTCCAT	0.383																																																	0													70.0	76.0	74.0					19																	23542574		2158	4283	6441	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3207G>C	19.37:g.23542574C>G	ENSP00000300619:p.Lys1069Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E1|B7Z6G6	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.K1069N	ENST00000300619.7	37	c.3207	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981276	0.34942	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.36157	1.27;3.18	1.49	-0.508	0.11980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40398	0.1115	N	0.25890	0.77	0.09310	N	0.999994	D;D	0.89917	0.986;1.0	P;D	0.91635	0.799;0.999	T	0.25847	-1.0120	9	0.54805	T	0.06	.	6.0951	0.20015	0.0:0.7499:0.0:0.2501	.	1037;1069	Q05481-2;Q05481	.;ZNF91_HUMAN	N	1069;1037	ENSP00000300619:K1069N;ENSP00000380272:K1037N	ENSP00000300619:K1069N	K	-	3	2	ZNF91	23334414	0.000000	0.05858	0.008000	0.14137	0.559000	0.35586	-0.426000	0.07008	-0.241000	0.09681	0.196000	0.17591	AAG	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	C	NM_003430		23542574	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.174	G
ZNF99	7652	genome.wustl.edu	37	19	22942226	22942226	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:22942226C>G	ENST00000596209.1	-	4	575	c.485G>C	c.(484-486)aGa>aCa	p.R162T	ZNF99_ENST00000397104.3_Missense_Mutation_p.R183T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R183I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AATCTTATATCTATTTGAATT	0.264																																																	1	Substitution - Missense(1)	large_intestine(1)											28.0	27.0	27.0					19																	22942226		1847	4084	5931	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.485G>C	19.37:g.22942226C>G	ENSP00000472969:p.Arg162Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	M0R335	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.R183T	ENST00000596209.1	37	c.548	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	1.437	-0.568765	0.03910	.	.	ENSG00000213973	ENST00000397104	T	0.26223	1.75	1.78	-3.56	0.04626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	L	0.37630	1.12	0.09310	N	1	P	0.41313	0.745	B	0.42882	0.401	T	0.13683	-1.0500	9	0.14252	T	0.57	.	1.486	0.02447	0.1892:0.406:0.2424:0.1623	.	183	A8MXY4	ZNF99_HUMAN	T	183	ENSP00000380293:R183T	ENSP00000380293:R183T	R	-	2	0	ZNF99	22734066	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.022000	0.12480	-1.431000	0.01982	0.395000	0.25975	AGA	ZNF99	-	pfscan_Znf_C2H2		0.264	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22942226	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF91	7644	genome.wustl.edu	37	19	23543181	23543181	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:23543181G>A	ENST00000300619.7	-	4	2805	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S835L|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	867					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CGTAAGATTTGAAGATTGATT	0.363																																																	0													68.0	75.0	72.0					19																	23543181		2133	4278	6411	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2600C>T	19.37:g.23543181G>A	ENSP00000300619:p.Ser867Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E1|B7Z6G6	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.S867L	ENST00000300619.7	37	c.2600	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844317	0.32606	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.58797	0.31;0.31	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72120	0.3421	M	0.78344	2.41	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.77557	0.99;0.968	T	0.58907	-0.7553	9	0.38643	T	0.18	.	9.7	0.40180	0.0:0.0:1.0:0.0	.	835;867	Q05481-2;Q05481	.;ZNF91_HUMAN	L	867;835	ENSP00000300619:S867L;ENSP00000380272:S835L	ENSP00000300619:S867L	S	-	2	0	ZNF91	23335021	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.309000	0.19332	0.726000	0.32339	0.313000	0.20887	TCA	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23543181	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.001	A
ZRANB3	84083	genome.wustl.edu	37	2	136071135	136071135	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:136071135C>T	ENST00000264159.6	-	8	1006	c.890G>A	c.(889-891)aGa>aAa	p.R297K	ZRANB3_ENST00000536680.1_Missense_Mutation_p.R297K|ZRANB3_ENST00000401392.1_Missense_Mutation_p.R297K	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	297	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATTTGGAGTTCTCATTATTTT	0.378																																																	0													150.0	141.0	143.0					2																	136071135		1854	4089	5943	SO:0001583	missense	84083			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.890G>A	2.37:g.136071135C>T	ENSP00000264159:p.Arg297Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R297K	ENST00000264159.6	37	c.890	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271163	0.23221	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.90788	-2.73;-2.73;-2.7	5.56	2.7	0.31948	.	0.314743	0.38272	N	0.001754	D	0.84902	0.5575	L	0.46947	1.48	0.37855	D	0.929513	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.16289	0.005;0.015;0.008	T	0.75622	-0.3254	10	0.18710	T	0.47	-15.0512	9.9862	0.41843	0.0:0.7717:0.0:0.2283	.	237;297;297	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	K	297;297;297;237	ENSP00000383979:R297K;ENSP00000264159:R297K;ENSP00000441320:R297K	ENSP00000264159:R297K	R	-	2	0	ZRANB3	135787605	0.991000	0.36638	0.995000	0.50966	0.570000	0.35934	1.618000	0.36954	0.271000	0.22005	0.467000	0.42956	AGA	ZRANB3	-	NULL		0.378	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	C	NM_032143		136071135	-1	no_errors	ENST00000264159	ensembl	human	known	70_37	missense	SNP	0.933	T
ZWINT	11130	genome.wustl.edu	37	10	58118402	58118402	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:58118402G>A	ENST00000373944.3	-	7	745	c.707C>T	c.(706-708)cCa>cTa	p.P236L	ZWINT_ENST00000395405.1_Missense_Mutation_p.P236L|ZWINT_ENST00000361148.6_Missense_Mutation_p.P189L|ZWINT_ENST00000318387.2_Missense_Mutation_p.P116L|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	236					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TTTATCATCTGGAAGATTCTC	0.532																																																	0													58.0	57.0	57.0					10																	58118402		2203	4300	6503	SO:0001583	missense	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.707C>T	10.37:g.58118402G>A	ENSP00000363055:p.Pro236Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	NULL	p.P236L	ENST00000373944.3	37	c.707	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605984	0.46527	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	3.85	0.982	0.19762	.	0.000000	0.41500	D	0.000865	T	0.33904	0.0879	L	0.27053	0.805	0.09310	N	1	B;B	0.20052	0.041;0.041	B;B	0.17722	0.019;0.019	T	0.24835	-1.0149	10	0.72032	D	0.01	-29.5886	5.8042	0.18430	0.3412:0.0:0.6588:0.0	.	189;236	A6NNV6;O95229	.;ZWINT_HUMAN	L	236;236;116;189	ENSP00000363055:P236L;ENSP00000378801:P236L;ENSP00000322850:P116L;ENSP00000354921:P189L	ENSP00000322850:P116L	P	-	2	0	ZWINT	57788408	0.000000	0.05858	0.010000	0.14722	0.015000	0.08874	-0.301000	0.08232	0.223000	0.20920	0.563000	0.77884	CCA	ZWINT	-	NULL		0.532	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	G			58118402	-1	no_errors	ENST00000373944	ensembl	human	known	70_37	missense	SNP	0.013	A
ZSWIM8	23053	genome.wustl.edu	37	10	75554361	75554361	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75554361G>A	ENST00000605216.1	+	14	3074	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.E958K|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E958K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E920K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E953K	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	953							zinc ion binding (GO:0008270)										ACCTGGGGATGAGGAGCTTGG	0.527																																																	0													37.0	38.0	37.0					10																	75554361		1973	4124	6097	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2857G>A	10.37:g.75554361G>A	ENSP00000474748:p.Glu953Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E958K	ENST00000605216.1	37	c.2872		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.523599|5.523599	0.96431|0.96431	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000431225;ENST00000412198;ENST00000425051	T|.	0.52983|.	0.64|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.76071|.	0.987;0.987;0.987;0.987|.	T|T	0.81286|0.81286	-0.1001|-0.1001	10|5	0.87932|.	D|.	0|.	-8.9435|-8.9435	20.3248|20.3248	0.98698|0.98698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	953;958;953;958|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	K|I	958|449;227;131	ENSP00000381693:E958K|.	ENSP00000381693:E958K|.	E|M	+|+	1|3	0|0	KIAA0913|KIAA0913	75224367|75224367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.759000|9.759000	0.98931|0.98931	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GAG|ATG	ZSWIM8	-	NULL		0.527	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	G	NM_001242487		75554361	+1	no_errors	ENST00000398706	ensembl	human	known	70_37	missense	SNP	1.000	A
ZZZ3	26009	genome.wustl.edu	37	1	78098460	78098460	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:78098460C>T	ENST00000370801.3	-	5	1055	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	194					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GTGATTTCTTCAACTACTGCA	0.398																																																	0													119.0	118.0	118.0					1																	78098460		2203	4300	6503	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.580G>A	1.37:g.78098460C>T	ENSP00000359837:p.Glu194Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E194K	ENST00000370801.3	37	c.580	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909837	0.33721	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	5.34	0.76211	.	0.277596	0.39341	N	0.001395	T	0.56499	0.1989	L	0.44542	1.39	0.80722	D	1	D;P;P	0.67145	0.996;0.9;0.939	D;B;P	0.62955	0.909;0.307;0.503	T	0.55023	-0.8205	8	.	.	.	.	12.7509	0.57308	0.0:0.9247:0.0:0.0753	.	194;194;194	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	194	.	.	E	-	1	0	ZZZ3	77871048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.046000	0.41260	2.649000	0.89929	0.650000	0.86243	GAA	ZZZ3	-	NULL		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	C	NM_015534		78098460	-1	no_errors	ENST00000370801	ensembl	human	known	70_37	missense	SNP	1.000	T
