#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCD1	215	genome.wustl.edu	37	X	152990784	152990784	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:152990784C>T	ENST00000218104.3	+	1	462	c.63C>T	c.(61-63)ctC>ctT	p.L21L	BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	21					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|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)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCGTGCTCCTGGCCCTCG	0.741																																																	0													5.0	5.0	5.0					X																	152990784		1843	3507	5350	SO:0001819	synonymous_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.63C>T	X.37:g.152990784C>T			Q6GTZ2	Silent	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.L21	ENST00000218104.3	37	c.63	CCDS14728.1	X																																																																																			ABCD1	-	tigrfam_FA_transporter		0.741	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	C	NM_000033		152990784	+1	no_errors	ENST00000218104	ensembl	human	known	70_37	silent	SNP	1.000	T
ABHD16B	140701	genome.wustl.edu	37	20	62494153	62494153	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr20:62494153C>T	ENST00000369916.3	+	1	1588	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000348257.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	420							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CACACGGACCCGCCTTCCCAT	0.716																																																	0													11.0	10.0	11.0					20																	62494153		2010	3874	5884	SO:0001819	synonymous_variant	140701				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1260C>T	20.37:g.62494153C>T				Silent	SNP	pfam_AB_hydrolase_1	p.P420	ENST00000369916.3	37	c.1260	CCDS13539.1	20																																																																																			ABHD16B	-	NULL		0.716	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	C			62494153	+1	no_errors	ENST00000369916	ensembl	human	known	70_37	silent	SNP	0.006	T
ABI1	10006	genome.wustl.edu	37	10	27112160	27112160	+	Silent	SNP	T	T	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr10:27112160T>C	ENST00000376142.2	-	2	263	c.192A>G	c.(190-192)caA>caG	p.Q64Q	ABI1_ENST00000376160.1_Silent_p.Q64Q|ABI1_ENST00000376170.4_Silent_p.Q64Q|ABI1_ENST00000376137.4_Silent_p.Q64Q|ABI1_ENST00000346832.5_Silent_p.Q81Q|ABI1_ENST00000376166.1_Silent_p.Q64Q|ABI1_ENST00000376134.3_Silent_p.Q64Q|ABI1_ENST00000490841.2_Silent_p.Q64Q|ABI1_ENST00000376139.2_Silent_p.Q64Q|ABI1_ENST00000376140.3_Silent_p.Q64Q|ABI1_ENST00000376138.3_Silent_p.Q64Q|ABI1_ENST00000355394.4_Silent_p.Q64Q|ABI1_ENST00000536334.1_Silent_p.Q64Q|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000359188.4_Silent_p.Q64Q	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	64	Required for binding to WASF1. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGCATTTATTTGATAAGCAA	0.403																																																	0													134.0	123.0	127.0					10																	27112160		2203	4300	6503	SO:0001819	synonymous_variant	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.192A>G	10.37:g.27112160T>C			A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Silent	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.Q64	ENST00000376142.2	37	c.192	CCDS7150.1	10																																																																																			ABI1	-	pfscan_T_SNARE_dom		0.403	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	T	NM_005470		27112160	-1	no_errors	ENST00000355394	ensembl	human	known	70_37	silent	SNP	1.000	C
ACAP3	116983	genome.wustl.edu	37	1	1235269	1235269	+	Missense_Mutation	SNP	A	A	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:1235269A>C	ENST00000354700.5	-	9	882	c.680T>G	c.(679-681)aTc>aGc	p.I227S	ACAP3_ENST00000353662.3_Missense_Mutation_p.I185S|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	227					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGCAGAGTCGATCACCAGCTG	0.677																																																	0													23.0	25.0	25.0					1																	1235269		2185	4288	6473	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.680T>G	1.37:g.1235269A>C	ENSP00000346733:p.Ile227Ser		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,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.I185S	ENST00000354700.5	37	c.554	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	A	9.460	1.092857	0.20471	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.03831	3.79;3.79	3.94	3.94	0.45596	.	0.182924	0.45361	D	0.000376	T	0.04634	0.0126	L	0.46157	1.445	0.41798	D	0.989901	B;B;P	0.35272	0.009;0.411;0.493	B;B;B	0.31101	0.054;0.118;0.124	T	0.32534	-0.9903	10	0.07644	T	0.81	.	13.4915	0.61397	1.0:0.0:0.0:0.0	.	267;227;185	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	S	227;185	ENSP00000346733:I227S;ENSP00000321139:I185S	ENSP00000321139:I185S	I	-	2	0	ACAP3	1225132	1.000000	0.71417	0.988000	0.46212	0.769000	0.43574	8.698000	0.91311	1.739000	0.51704	0.260000	0.18958	ATC	ACAP3	-	NULL		0.677	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	A	NM_030649		1235269	-1	no_errors	ENST00000353662	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAD1	132612	genome.wustl.edu	37	4	123317530	123317530	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr4:123317530G>A	ENST00000296513.2	+	7	907	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ADAD1_ENST00000388725.2_Missense_Mutation_p.R223K|ADAD1_ENST00000388724.2_Missense_Mutation_p.R241K|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	241					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATAATTGAAAGAGGTAAGTCC	0.294																																																	0													43.0	47.0	46.0					4																	123317530		2202	4289	6491	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.722G>A	4.37:g.123317530G>A	ENSP00000296513:p.Arg241Lys		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.R241K	ENST00000296513.2	37	c.722	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792175	0.31685	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.29397	1.6;1.57;1.6	5.9	5.9	0.94986	Adenosine deaminase/editase (1);	0.160594	0.56097	D	0.000021	T	0.19167	0.0460	N	0.24115	0.695	0.29782	N	0.833912	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.12682	-1.0538	10	0.09338	T	0.73	-25.7453	12.3949	0.55378	0.0776:0.0:0.9224:0.0	.	241;241	Q96M93-2;Q96M93	.;ADAD1_HUMAN	K	241;241;241;223	ENSP00000296513:R241K;ENSP00000373376:R241K;ENSP00000373377:R223K	ENSP00000296513:R241K	R	+	2	0	ADAD1	123536980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.715000	0.47210	2.800000	0.96347	0.655000	0.94253	AGA	ADAD1	-	smart_A_deamin		0.294	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	G	NM_139243		123317530	+1	no_errors	ENST00000296513	ensembl	human	known	70_37	missense	SNP	1.000	A
AVPR2	554	genome.wustl.edu	37	X	153172076	153172076	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:153172076G>A	ENST00000358927.2	+	4	1219	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000337474.5_Missense_Mutation_p.R337Q|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	337					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCAGAGCTGCGAAGCTTGCTC	0.627																																																	0													102.0	88.0	93.0					X																	153172076		2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1010G>A	X.37:g.153172076G>A	ENSP00000351805:p.Arg337Gln		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R337Q	ENST00000358927.2	37	c.1010	CCDS14735.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.023|0.023	-1.396295|-1.396295	0.01175|0.01175	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.74209|0.39406	-0.82|1.08;1.08	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.331999	.|0.27816	.|N	.|0.017738	T|T	0.26919|0.26919	0.0659|0.0659	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999998|0.999998	.|P	.|0.41313	.|0.745	.|B	.|0.22753	.|0.041	T|T	0.21724|0.21724	-1.0237|-1.0237	7|10	0.46703|0.24483	T|T	0.11|0.36	.|.	9.1182|9.1182	0.36771|0.36771	0.1086:0.0:0.8914:0.0|0.1086:0.0:0.8914:0.0	.|.	.|337	.|P30518	.|V2R_HUMAN	K|Q	308|337	ENSP00000393513:E308K|ENSP00000351805:R337Q;ENSP00000338072:R337Q	ENSP00000393513:E308K|ENSP00000338072:R337Q	E|R	+|+	1|2	0|0	AVPR2|AVPR2	152825270|152825270	0.009000|0.009000	0.17119|0.17119	0.822000|0.822000	0.32727|0.32727	0.038000|0.038000	0.13279|0.13279	0.815000|0.815000	0.27253|0.27253	1.880000|1.880000	0.54463|0.54463	0.418000|0.418000	0.28097|0.28097	GAA|CGA	AVPR2	-	prints_Vprsn_rcpt_V2		0.627	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	HGNC	protein_coding	OTTHUMT00000061127.2	G			153172076	+1	no_errors	ENST00000337474	ensembl	human	known	70_37	missense	SNP	0.183	A
B4GALNT4	338707	genome.wustl.edu	37	11	373229	373229	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:373229G>A	ENST00000329962.6	+	6	574	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	192					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		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)		CGACAACTCGGAGTTCTGGCT	0.662																																																	0													61.0	60.0	60.0					11																	373229		2199	4294	6493	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.574G>A	11.37:g.373229G>A	ENSP00000328277:p.Glu192Lys		Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.E192K	ENST00000329962.6	37	c.574	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	g	20.6	4.019864	0.75275	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.35	4.35	0.52113	PA14 (2);	0.240217	0.33670	N	0.004666	T	0.51924	0.1703	M	0.85197	2.74	0.48395	D	0.999644	D	0.76494	0.999	D	0.87578	0.998	T	0.61758	-0.6997	10	0.62326	D	0.03	-17.2188	17.4028	0.87465	0.0:0.0:1.0:0.0	.	192	Q76KP1	B4GN4_HUMAN	K	192	ENSP00000328277:E192K	ENSP00000328277:E192K	E	+	1	0	B4GALNT4	363229	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.953000	0.70290	2.164000	0.68074	0.472000	0.43445	GAG	B4GALNT4	-	pfam_PA14,smart_PA14		0.662	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	G	NM_178537		373229	+1	no_errors	ENST00000329962	ensembl	human	known	70_37	missense	SNP	1.000	A
BBS2	583	genome.wustl.edu	37	16	56536701	56536701	+	Missense_Mutation	SNP	C	C	T	rs150572808		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr16:56536701C>T	ENST00000245157.5	-	8	1244	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.R275Q	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	275					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R275Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTCCCCAGTTCGGTCACTTCG	0.373									Bardet-Biedl syndrome																																								1	Substitution - Missense(1)	large_intestine(1)						C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	64.0	61.0	62.0		824	5.9	1.0	16	dbSNP_134	62	0,8600		0,0,4300	no	missense	BBS2	NM_031885.3	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	275/722	56536701	1,12995	2198	4300	6498	SO:0001583	missense	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.824G>A	16.37:g.56536701C>T	ENSP00000245157:p.Arg275Gln		Q96CM0|Q96SN9	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.R275Q	ENST00000245157.5	37	c.824	CCDS32451.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.241004	0.95272	2.27E-4	0.0	ENSG00000125124	ENST00000245157	T	0.66099	-0.19	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.68655	-0.5351	10	0.28530	T	0.3	-7.448	20.3207	0.98668	0.0:1.0:0.0:0.0	.	275;275	A8K0N9;Q9BXC9	.;BBS2_HUMAN	Q	275	ENSP00000245157:R275Q	ENSP00000245157:R275Q	R	-	2	0	BBS2	55094202	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.768000	0.85345	2.813000	0.96785	0.561000	0.74099	CGA	BBS2	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot		0.373	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	C	NM_031885		56536701	-1	no_errors	ENST00000245157	ensembl	human	known	70_37	missense	SNP	1.000	T
C7	730	genome.wustl.edu	37	5	40947853	40947853	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:40947853C>T	ENST00000313164.9	+	8	1247	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	296	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAAGATTAATCGACCAGTACG	0.408																																																	0													92.0	87.0	88.0					5																	40947853		1843	4093	5936	SO:0001819	synonymous_variant	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.888C>T	5.37:g.40947853C>T			Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.I296	ENST00000313164.9	37	c.888	CCDS47201.1	5																																																																																			C7	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin		0.408	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	C			40947853	+1	no_errors	ENST00000313164	ensembl	human	known	70_37	silent	SNP	0.713	T
CACHD1	57685	genome.wustl.edu	37	1	65099846	65099846	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:65099846C>T	ENST00000371073.2	+	7	909	c.909C>T	c.(907-909)agC>agT	p.S303S	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.S252S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	303	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						TTGTTAGCAGCGTGAAGTCTT	0.468																																																	0													108.0	90.0	96.0					1																	65099846		2203	4300	6503	SO:0001819	synonymous_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.909C>T	1.37:g.65099846C>T			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.S303	ENST00000371073.2	37	c.909		1																																																																																			CACHD1	-	pfscan_VWF_A		0.468	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65099846	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	silent	SNP	0.978	T
CACNA2D3	55799	genome.wustl.edu	37	3	54919573	54919573	+	Silent	SNP	G	G	A	rs374818350		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:54919573G>A	ENST00000474759.1	+	23	2064	c.2016G>A	c.(2014-2016)gcG>gcA	p.A672A	CACNA2D3_ENST00000415676.2_Silent_p.A672A|CACNA2D3_ENST00000490478.1_Silent_p.A578A|CACNA2D3_ENST00000288197.5_Silent_p.A672A|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	672						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGTTAGAAGCGATTAAGCTCT	0.468																																																	0								G		4,4130		0,4,2063	112.0	107.0	108.0		2016	-9.3	0.4	3		108	0,8440		0,0,4220	no	coding-synonymous	CACNA2D3	NM_018398.2		0,4,6283	AA,AG,GG		0.0,0.0968,0.0318		672/1092	54919573	4,12570	2067	4220	6287	SO:0001819	synonymous_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2016G>A	3.37:g.54919573G>A			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A672	ENST00000474759.1	37	c.2016	CCDS54598.1	3																																																																																			CACNA2D3	-	NULL		0.468	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	G			54919573	+1	no_errors	ENST00000288197	ensembl	human	known	70_37	silent	SNP	0.368	A
CAMLG	819	genome.wustl.edu	37	5	134076890	134076890	+	Missense_Mutation	SNP	G	G	A	rs143564828		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:134076890G>A	ENST00000297156.2	+	2	430	c.310G>A	c.(310-312)Gag>Aag	p.E104K	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	104					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TGGTGTGGCCGAGGTAAAGGG	0.522																																																	0								G	LYS/GLU	0,4406		0,0,2203	82.0	81.0	82.0		310	5.0	0.3	5	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMLG	NM_001745.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	104/297	134076890	1,13005	2203	4300	6503	SO:0001583	missense	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.310G>A	5.37:g.134076890G>A	ENSP00000297156:p.Glu104Lys		A1L3Y3	Missense_Mutation	SNP	pirsf_Ca_signal-mod_cyclophilin_lig	p.E104K	ENST00000297156.2	37	c.310	CCDS4178.1	5	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537739	0.65085	0.0	1.16E-4	ENSG00000164615	ENST00000297156	T	0.35236	1.32	5.86	4.98	0.66077	.	0.200329	0.51477	D	0.000081	T	0.36635	0.0974	L	0.56769	1.78	0.80722	D	1	P	0.48589	0.912	B	0.38156	0.266	T	0.38693	-0.9649	10	0.62326	D	0.03	-16.6641	16.9346	0.86200	0.0:0.1279:0.8721:0.0	.	104	P49069	CAMLG_HUMAN	K	104	ENSP00000297156:E104K	ENSP00000297156:E104K	E	+	1	0	CAMLG	134104789	1.000000	0.71417	0.269000	0.24586	0.981000	0.71138	5.053000	0.64269	1.444000	0.47605	0.655000	0.94253	GAG	CAMLG	-	pirsf_Ca_signal-mod_cyclophilin_lig		0.522	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMLG	HGNC	protein_coding	OTTHUMT00000251161.1	G	NM_001745		134076890	+1	no_errors	ENST00000297156	ensembl	human	known	70_37	missense	SNP	0.721	A
CCDC108	255101	genome.wustl.edu	37	2	219897276	219897276	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:219897276G>A	ENST00000341552.5	-	6	644	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CCDC108_ENST00000441968.1_Silent_p.F187F|CCDC108_ENST00000409865.3_Silent_p.F176F|CCDC108_ENST00000453220.1_Silent_p.F187F|CCDC108_ENST00000410037.1_Silent_p.F122F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	187						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGAAGAAGAACTTGGTCT	0.612																																																	0													59.0	49.0	53.0					2																	219897276		2202	4300	6502	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.561C>T	2.37:g.219897276G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.F187	ENST00000341552.5	37	c.561	CCDS2430.2	2																																																																																			CCDC108	-	NULL		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219897276	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	silent	SNP	1.000	A
COL15A1	1306	genome.wustl.edu	37	9	101812136	101812136	+	Splice_Site	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:101812136G>A	ENST00000375001.3	+	30	3286	c.2863G>A	c.(2863-2865)Gcc>Acc	p.A955T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	955	Nonhelical region 6 (NC6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTACCCACAGGCCATTTTCCC	0.502																																																	0													255.0	209.0	224.0					9																	101812136		2203	4300	6503	SO:0001630	splice_region_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2863-1G>A	9.37:g.101812136G>A			Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.A955T	ENST00000375001.3	37	c.2863	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946437	0.18356	.	.	ENSG00000204291	ENST00000375001	T	0.32272	1.46	6.06	2.9	0.33743	C-type lectin fold (1);	0.453258	0.24174	N	0.040872	T	0.18800	0.0451	L	0.33245	0.995	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.06250	-1.0837	9	.	.	.	-7.9048	5.6533	0.17629	0.3594:0.0:0.6406:0.0	.	955	P39059	COFA1_HUMAN	T	955	ENSP00000364140:A955T	.	A	+	1	0	COL15A1	100851957	1.000000	0.71417	0.904000	0.35570	0.088000	0.18126	2.478000	0.45189	0.899000	0.36444	0.655000	0.94253	GCC	COL15A1	-	superfamily_C-type_lectin_fold		0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855	Missense_Mutation	101812136	+1	no_errors	ENST00000375001	ensembl	human	known	70_37	missense	SNP	0.984	A
DCHS1	8642	genome.wustl.edu	37	11	6653796	6653796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:6653796G>A	ENST00000299441.3	-	6	3358	c.2947C>T	c.(2947-2949)Cga>Tga	p.R983*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	983	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		ACCCGTAGTCGAAAGTGGCTG	0.662																																																	0													9.0	9.0	9.0					11																	6653796		2191	4280	6471	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.2947C>T	11.37:g.6653796G>A	ENSP00000299441:p.Arg983*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R983*	ENST00000299441.3	37	c.2947	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	43	9.905982	0.99293	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.84	4.84	0.62591	.	0.209202	0.24301	N	0.039738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	12.558	0.56265	0.0:0.0:0.8339:0.1661	.	.	.	.	X	983	.	ENSP00000299441:R983X	R	-	1	2	DCHS1	6610372	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	3.408000	0.52651	2.676000	0.91093	0.561000	0.74099	CGA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6653796	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	nonsense	SNP	0.988	A
DENND4B	9909	genome.wustl.edu	37	1	153912202	153912202	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:153912202C>T	ENST00000361217.4	-	12	2100	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	561					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGCTCCAGCCGGGCCCTGCG	0.647																																																	0													57.0	68.0	65.0					1																	153912202		2053	4184	6237	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1682G>A	1.37:g.153912202C>T	ENSP00000354597:p.Arg561Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R561Q	ENST00000361217.4	37	c.1682	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370897	0.24771	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06371	3.31;3.31	5.14	4.23	0.50019	.	0.301676	0.32884	N	0.005535	T	0.00637	0.0021	N	0.02011	-0.69	0.39548	D	0.968922	B	0.02656	0.0	B	0.01281	0.0	T	0.44862	-0.9300	10	0.06236	T	0.91	-21.8805	6.9954	0.24779	0.0:0.7446:0.0:0.2554	.	561	O75064	DEN4B_HUMAN	Q	561;572	ENSP00000354597:R561Q;ENSP00000357635:R572Q	ENSP00000354597:R561Q	R	-	2	0	DENND4B	152178826	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	1.892000	0.39748	1.415000	0.47037	0.462000	0.41574	CGG	DENND4B	-	NULL		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153912202	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJB8	165721	genome.wustl.edu	37	3	128182808	128182808	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:128182808C>T	ENST00000469083.1	-	0	1838				DNAJB8_ENST00000319153.3_De_novo_Start_InFrame|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8						chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGCTGGCACACGAGGGCCGTC	0.567																																																	0																																												285224				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690		3.37:g.128182808C>T			B3KWV7	RNA	SNP	-	NULL	ENST00000469083.1	37	NULL	CCDS3048.1	3																																																																																			DNAJB8-AS1	-	-		0.567	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJB8-AS1	HGNC	protein_coding	OTTHUMT00000356933.1	C	NM_153330		128182808	+1	no_errors	ENST00000471626	ensembl	human	known	70_37	rna	SNP	0.001	T
DOCK7	85440	genome.wustl.edu	37	1	63052286	63052286	+	Silent	SNP	G	G	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:63052286G>C	ENST00000340370.5	-	15	1709	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	DOCK7_ENST00000404627.2_Silent_p.L564L|DOCK7_ENST00000251157.5_Silent_p.L564L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	564	DHR-1.				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						GGTATATGTAGAGAAGATTTC	0.338																																																	0													88.0	88.0	88.0					1																	63052286		2203	4300	6503	SO:0001819	synonymous_variant	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.1692C>G	1.37:g.63052286G>C			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L564	ENST00000340370.5	37	c.1692	CCDS30734.1	1																																																																																			DOCK7	-	NULL		0.338	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	G	NM_033407		63052286	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	silent	SNP	0.995	C
DYNC2H1	79659	genome.wustl.edu	37	11	103092859	103092859	+	Missense_Mutation	SNP	A	A	G			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:103092859A>G	ENST00000375735.2	+	58	9352	c.9208A>G	c.(9208-9210)Aat>Gat	p.N3070D	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N3070D|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3070	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTAAAAATAAAGGCTC	0.299																																																	0													30.0	30.0	30.0					11																	103092859		1785	4043	5828	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9208A>G	11.37:g.103092859A>G	ENSP00000364887:p.Asn3070Asp		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3070D	ENST00000375735.2	37	c.9208	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336604	0.41398	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74526	-0.85;-0.85	5.86	4.72	0.59763	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.71581	2.175	0.58432	D	0.999994	P;P	0.41188	0.741;0.696	P;P	0.48141	0.568;0.535	T	0.73269	-0.4036	10	0.19590	T	0.45	.	12.5726	0.56344	0.8608:0.1392:0.0:0.0	.	3070;3070	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	3070	ENSP00000364887:N3070D;ENSP00000381167:N3070D	ENSP00000364887:N3070D	N	+	1	0	DYNC2H1	102598069	1.000000	0.71417	0.998000	0.56505	0.274000	0.26718	8.830000	0.92063	1.131000	0.42111	-0.321000	0.08615	AAT	DYNC2H1	-	NULL		0.299	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	A	XM_370652		103092859	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	G
EFHB	151651	genome.wustl.edu	37	3	19947139	19947139	+	Missense_Mutation	SNP	G	G	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:19947139G>C	ENST00000295824.9	-	6	1552	c.1391C>G	c.(1390-1392)tCt>tGt	p.S464C	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.S334C	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	464							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAATATAGAGATTTTGCCAT	0.368																																																	0													107.0	111.0	110.0					3																	19947139		2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1391C>G	3.37:g.19947139G>C	ENSP00000295824:p.Ser464Cys		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S464C	ENST00000295824.9	37	c.1391	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771651	0.02951	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.28454	1.95;1.96;2.24;1.61	4.83	1.79	0.24919	.	0.778438	0.11842	N	0.524215	T	0.14485	0.0350	N	0.04203	-0.255	0.21627	N	0.999618	B;B	0.23806	0.091;0.031	B;B	0.15052	0.012;0.007	T	0.23904	-1.0175	9	.	.	.	-5.8053	13.4013	0.60885	0.0:0.4622:0.5378:0.0	.	334;464	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	C	464;334;464;201	ENSP00000295824:S464C;ENSP00000342263:S334C;ENSP00000373908:S464C;ENSP00000396778:S201C	.	S	-	2	0	EFHB	19922143	0.974000	0.33945	0.959000	0.39883	0.044000	0.14063	0.878000	0.28126	0.122000	0.18314	0.491000	0.48974	TCT	EFHB	-	NULL		0.368	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2	G	NM_144715		19947139	-1	no_errors	ENST00000295824	ensembl	human	known	70_37	missense	SNP	0.906	C
RP11-435B5.5	0	genome.wustl.edu	37	1	143380503	143380503	+	lincRNA	SNP	C	C	T	rs80018248		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:143380503C>T	ENST00000428624.1	+	0	1673				RP11-435B5.4_ENST00000423249.1_lincRNA																							GGCTGACAGCCTAAAAAAATT	0.308																																																	0																																												0																															1.37:g.143380503C>T				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.308	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	C			143380503	+1	no_errors	ENST00000423394	ensembl	human	known	70_37	rna	SNP	0.024	T
TMEM255B	348013	genome.wustl.edu	37	13	114498154	114498154	+	Missense_Mutation	SNP	G	G	A	rs150323609	byFrequency	TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr13:114498154G>A	ENST00000375353.3	+	4	313	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	96						integral component of membrane (GO:0016021)											CAGTTTTGGCGTGGTGGCCGC	0.542																																																	0													117.0	94.0	101.0					13																	114498154		2203	4300	6503	SO:0001583	missense	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.286G>A	13.37:g.114498154G>A	ENSP00000364502:p.Val96Met			Missense_Mutation	SNP	NULL	p.V96M	ENST00000375353.3	37	c.286	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754890	0.49362	.	.	ENSG00000184497	ENST00000375353;ENST00000375348	T;T	0.58652	0.32;0.32	4.06	4.06	0.47325	.	.	.	.	.	T	0.74846	0.3770	M	0.76838	2.35	0.58432	D	0.999995	D	0.89917	1.0	D	0.68483	0.958	T	0.79933	-0.1594	9	0.87932	D	0	-18.814	15.0297	0.71696	0.0:0.0:1.0:0.0	.	96	Q8WV15	FA70B_HUMAN	M	96;104	ENSP00000364502:V96M;ENSP00000364497:V104M	ENSP00000364497:V104M	V	+	1	0	FAM70B	113615789	1.000000	0.71417	0.968000	0.41197	0.190000	0.23558	5.129000	0.64739	1.806000	0.52798	0.394000	0.25966	GTG	FAM70B	-	NULL		0.542	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM70B	HGNC	protein_coding	OTTHUMT00000045953.4	G	NM_182614		114498154	+1	no_errors	ENST00000375353	ensembl	human	known	70_37	missense	SNP	0.997	A
GAB1	2549	genome.wustl.edu	37	4	144359481	144359481	+	Missense_Mutation	SNP	A	A	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr4:144359481A>T	ENST00000262994.4	+	4	1225	c.923A>T	c.(922-924)gAc>gTc	p.D308V	GAB1_ENST00000262995.4_Missense_Mutation_p.D308V|GAB1_ENST00000505913.1_Missense_Mutation_p.D205V	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	308					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|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)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ATTAGTTATGACATTCCTCCA	0.408																																																	0													95.0	86.0	89.0					4																	144359481		2203	4300	6503	SO:0001583	missense	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.923A>T	4.37:g.144359481A>T	ENSP00000262994:p.Asp308Val		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D308V	ENST00000262994.4	37	c.923	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646867	0.87958	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.38560	1.13;1.13;1.13	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.67791	-0.5579	10	0.54805	T	0.06	-7.5569	16.1549	0.81657	1.0:0.0:0.0:0.0	.	308;308	Q13480;Q13480-2	GAB1_HUMAN;.	V	308;308;205	ENSP00000262995:D308V;ENSP00000262994:D308V;ENSP00000424554:D205V	ENSP00000262994:D308V	D	+	2	0	GAB1	144578931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.690000	0.91272	2.209000	0.71365	0.533000	0.62120	GAC	GAB1	-	NULL		0.408	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	A	NM_002039		144359481	+1	no_errors	ENST00000262995	ensembl	human	known	70_37	missense	SNP	1.000	T
GLRX2	51022	genome.wustl.edu	37	1	193070288	193070288	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:193070288G>A	ENST00000367439.3	-	2	214	c.166C>T	c.(166-168)Cct>Tct	p.P56S	GLRX2_ENST00000367440.3_Missense_Mutation_p.P57S|GLRX2_ENST00000472197.1_5'UTR	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	56					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	TGGTTCACAGGCGCCGTCGCT	0.333																																																	0													76.0	74.0	74.0					1																	193070288		2203	4300	6503	SO:0001583	missense	51022			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.166C>T	1.37:g.193070288G>A	ENSP00000356409:p.Pro56Ser		Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.P57S	ENST00000367439.3	37	c.169	CCDS1381.1	1	.	.	.	.	.	.	.	.	.	.	G	9.898	1.206033	0.22205	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.33438	1.41;1.45	5.0	4.02	0.46733	Thioredoxin-like fold (2);	0.285757	0.38778	N	0.001575	T	0.38852	0.1056	L	0.58101	1.795	0.21064	N	0.999792	D;P	0.56287	0.975;0.73	P;B	0.57720	0.826;0.256	T	0.16012	-1.0417	10	0.16420	T	0.52	-31.2569	8.0391	0.30511	0.0:0.1717:0.651:0.1773	.	57;56	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	S	56;57	ENSP00000356409:P56S;ENSP00000356410:P57S	ENSP00000356409:P56S	P	-	1	0	GLRX2	191336911	0.813000	0.29090	0.392000	0.26245	0.003000	0.03518	1.470000	0.35354	2.464000	0.83262	0.655000	0.94253	CCT	GLRX2	-	superfamily_Thioredoxin-like_fold		0.333	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLRX2	HGNC	protein_coding	OTTHUMT00000086699.1	G	NM_016066		193070288	-1	no_errors	ENST00000367440	ensembl	human	known	70_37	missense	SNP	0.197	A
GOLGA8G	283768	genome.wustl.edu	37	15	28769099	28769099	+	Missense_Mutation	SNP	C	C	G	rs143889206	byFrequency	TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr15:28769099C>G	ENST00000525590.2	-	15	1458	c.1397G>C	c.(1396-1398)aGg>aCg	p.R466T	RN7SL829P_ENST00000489494.2_RNA|GOLGA8G_ENST00000329523.6_Intron|AC138749.1_ENST00000458870.1_RNA			Q08AF8	GOG8F_HUMAN	golgin A8 family, member G	248						Golgi apparatus (GO:0005794)				lung(1)	1		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)		CATGGCCTCCCTGCTCTCCAG	0.602																																																	0								C		128,3770		24,80,1845	152.0	79.0	110.0			0.6	0.0	15	dbSNP_134	110	3,5347		1,1,2673	no	intergenic				25,81,4518	GG,GC,CC		0.0561,3.2837,1.4165			28769099	131,9117	1949	2675	4624	SO:0001583	missense	283768					15q13.1	2013-01-17	2010-02-12		ENSG00000183629	ENSG00000183629			25328	other	unknown			"""golgi autoantigen, golgin subfamily a, 8G"""			12477932	Standard	NR_033353		Approved	DKFZp434K052		Q08AF8	OTTHUMG00000167134	ENST00000525590.2:c.1397G>C	15.37:g.28769099C>G	ENSP00000458130:p.Arg466Thr		A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	NULL	p.R248T	ENST00000525590.2	37	c.743		15																																																																																			GOLGA8G	-	NULL		0.602	GOLGA8G-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8G	HGNC	protein_coding	OTTHUMT00000393332.2	C	NR_033353.1		28769099	-1	no_errors	ENST00000433304	ensembl	human	known	70_37	missense	SNP	0.987	G
GOLGA6A	342096	genome.wustl.edu	37	15	74363798	74363798	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr15:74363798G>A	ENST00000290438.3	-	16	1750	c.1710C>T	c.(1708-1710)acC>acT	p.T570T	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	570						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTTCATATACGGTGAAGGACT	0.627																																																	0													1.0	1.0	1.0					15																	74363798		115	284	399	SO:0001819	synonymous_variant	342096			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1710C>T	15.37:g.74363798G>A			A8K959|Q9NYA7	Silent	SNP	NULL	p.T570	ENST00000290438.3	37	c.1710	CCDS32290.1	15																																																																																			GOLGA6A	-	NULL		0.627	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6A	HGNC	protein_coding	OTTHUMT00000421835.1	G	XM_292357		74363798	-1	no_errors	ENST00000290438	ensembl	human	known	70_37	silent	SNP	0.990	A
GPI	2821	genome.wustl.edu	37	19	34857712	34857712	+	Missense_Mutation	SNP	G	G	T	rs139923243		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr19:34857712G>T	ENST00000356487.5	+	3	479	c.238G>T	c.(238-240)Gcc>Tcc	p.A80S	GPI_ENST00000415930.3_Missense_Mutation_p.A119S|GPI_ENST00000586425.1_Missense_Mutation_p.A80S	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	80					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CGTGGAGGCCGCCCGGGAGCG	0.602																																																	0													77.0	81.0	80.0					19																	34857712		2203	4300	6503	SO:0001583	missense	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.238G>T	19.37:g.34857712G>T	ENSP00000348877:p.Ala80Ser		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.A119S	ENST00000356487.5	37	c.355	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024300	0.75390	.	.	ENSG00000105220	ENST00000415930;ENST00000356487;ENST00000392234	D;D	0.94232	-3.38;-3.38	5.54	5.54	0.83059	.	0.045688	0.85682	D	0.000000	D	0.95762	0.8621	M	0.69823	2.125	0.80722	D	1	B;B;P;B	0.42961	0.032;0.214;0.795;0.013	B;B;P;B	0.54924	0.101;0.162;0.764;0.185	D	0.95593	0.8656	10	0.59425	D	0.04	-14.7371	19.0718	0.93140	0.0:0.0:1.0:0.0	.	80;119;401;80	B4DE36;B4DG39;Q59F85;P06744	.;.;.;G6PI_HUMAN	S	119;80;401	ENSP00000405573:A119S;ENSP00000348877:A80S	ENSP00000348877:A80S	A	+	1	0	GPI	39549552	1.000000	0.71417	0.467000	0.27180	0.851000	0.48451	7.165000	0.77544	2.623000	0.88846	0.561000	0.74099	GCC	GPI	-	pfam_G6P_Isomerase		0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	G			34857712	+1	no_errors	ENST00000415930	ensembl	human	known	70_37	missense	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53615416	53615416	+	Missense_Mutation	SNP	T	T	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:53615416T>C	ENST00000342160.3	-	36	4997	c.4540A>G	c.(4540-4542)Ata>Gta	p.I1514V	HUWE1_ENST00000262854.6_Missense_Mutation_p.I1514V|HUWE1_ENST00000218328.8_Missense_Mutation_p.I1514V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1514					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCTGACTTATCCACTCTGAC	0.448																																																	0													121.0	83.0	95.0					X																	53615416		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4540A>G	X.37:g.53615416T>C	ENSP00000340648:p.Ile1514Val		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.I1514V	ENST00000342160.3	37	c.4540	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.360|9.360	1.067754|1.067754	0.20067|0.20067	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.39787	.|1.39;1.39;1.06	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.124870	.|0.53938	.|D	.|0.000058	T|T	0.24392|0.24392	0.0591|0.0591	N|N	0.14661|0.14661	0.345|0.345	0.37318|0.37318	D|D	0.90941|0.90941	.|B;P	.|0.34743	.|0.165;0.466	.|B;B	.|0.28916	.|0.031;0.096	T|T	0.23048|0.23048	-1.0199|-1.0199	5|10	.|0.16896	.|T	.|0.51	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1514;1514	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	G|V	547|1514	.|ENSP00000340648:I1514V;ENSP00000262854:I1514V;ENSP00000218328:I1514V	.|ENSP00000218328:I1514V	D|I	-|-	2|1	0|0	HUWE1|HUWE1	53632141|53632141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.839000|4.839000	0.62810|0.62810	1.962000|1.962000	0.57031|0.57031	0.486000|0.486000	0.48141|0.48141	GAT|ATA	HUWE1	-	NULL		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	T	XM_497119		53615416	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	C
IMPG1	3617	genome.wustl.edu	37	6	76712654	76712654	+	Silent	SNP	T	T	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:76712654T>C	ENST00000369950.3	-	12	1461	c.1272A>G	c.(1270-1272)ggA>ggG	p.G424G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CATGCTCTGCTCCGTCCACTG	0.443																																					Pancreas(37;839 1141 2599 26037)												0													129.0	111.0	117.0					6																	76712654		2203	4300	6503	SO:0001819	synonymous_variant	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1272A>G	6.37:g.76712654T>C				Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.G424	ENST00000369950.3	37	c.1272	CCDS4985.1	6																																																																																			IMPG1	-	NULL		0.443	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	T	NM_001563		76712654	-1	no_errors	ENST00000369950	ensembl	human	known	70_37	silent	SNP	0.000	C
KAZN	23254	genome.wustl.edu	37	1	15421416	15421416	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:15421416G>A	ENST00000376030.2	+	10	1828	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	512					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCGTGATGCCGAGGCAGGCCG	0.677																																																	0													5.0	7.0	6.0					1																	15421416		1737	3546	5283	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1534G>A	1.37:g.15421416G>A	ENSP00000365198:p.Glu512Lys		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E512K	ENST00000376030.2	37	c.1534	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539479	0.65085	.	.	ENSG00000189337	ENST00000376030	T	0.18810	2.19	4.44	4.44	0.53790	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.50333	1.59	0.80722	D	1	P	0.42161	0.772	B	0.30943	0.122	T	0.05053	-1.0909	10	0.52906	T	0.07	-14.8565	12.9292	0.58276	0.0:0.0:1.0:0.0	.	512	Q674X7	KAZRN_HUMAN	K	512	ENSP00000365198:E512K	ENSP00000365198:E512K	E	+	1	0	KAZN	15294003	1.000000	0.71417	0.661000	0.29709	0.692000	0.40212	6.556000	0.73932	2.168000	0.68352	0.561000	0.74099	GAG	KAZN	-	superfamily_SAM/pointed		0.677	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15421416	+1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	0.997	A
LINC01410	103352539	genome.wustl.edu	37	9	66466172	66466172	+	lincRNA	SNP	T	T	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:66466172T>C	ENST00000424345.1	+	0	805																											GAATTGTACATGGTCCtgtga	0.418																																																	0																																												100996870																															9.37:g.66466172T>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.418	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	T			66466172	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.124	C
LRCH2	57631	genome.wustl.edu	37	X	114384485	114384485	+	Missense_Mutation	SNP	G	G	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:114384485G>T	ENST00000317135.8	-	14	1630	c.1600C>A	c.(1600-1602)Caa>Aaa	p.Q534K	LRCH2_ENST00000538422.1_Missense_Mutation_p.Q534K	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	534										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCATCTATTTGATCCTTCTGA	0.323																																																	0													60.0	51.0	54.0					X																	114384485		1802	4060	5862	SO:0001583	missense	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.1600C>A	X.37:g.114384485G>T	ENSP00000325091:p.Gln534Lys		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	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.Q534K	ENST00000317135.8	37	c.1600	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617375	0.14129	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	D;T	0.82984	-1.67;5.65	5.05	5.05	0.67936	.	0.806953	0.11409	N	0.566939	T	0.69142	0.3078	L	0.29908	0.895	0.25451	N	0.988007	B;B	0.25667	0.118;0.131	B;B	0.18871	0.011;0.023	T	0.56571	-0.7957	10	0.07325	T	0.83	-5.9947	7.3741	0.26818	0.1938:0.0:0.8062:0.0	.	534;534	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	K	534	ENSP00000325091:Q534K;ENSP00000439366:Q534K	ENSP00000325091:Q534K	Q	-	1	0	LRCH2	114290741	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.391000	0.44424	2.221000	0.72209	0.538000	0.68166	CAA	LRCH2	-	NULL		0.323	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114384485	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	missense	SNP	0.998	T
LRP2	4036	genome.wustl.edu	37	2	170048422	170048422	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:170048422C>T	ENST00000263816.3	-	48	9237	c.8952G>A	c.(8950-8952)gaG>gaA	p.E2984E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2984	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATTCTGATTCTCATCGTAGC	0.473																																																	0													98.0	92.0	94.0					2																	170048422		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8952G>A	2.37:g.170048422C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E2984	ENST00000263816.3	37	c.8952	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170048422	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	0.920	T
LRP5	4041	genome.wustl.edu	37	11	68190979	68190979	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:68190979G>A	ENST00000294304.7	+	14	3156	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTCTCTGAGCCAAGGCCAA	0.592																																																	0													111.0	108.0	109.0					11																	68190979		2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3050G>A	11.37:g.68190979G>A	ENSP00000294304:p.Ser1017Asn		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S1017N	ENST00000294304.7	37	c.3050	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	7.179	0.589211	0.13812	.	.	ENSG00000162337	ENST00000294304	D	0.91237	-2.81	4.03	3.1	0.35709	Six-bladed beta-propeller, TolB-like (1);	0.252624	0.26106	U	0.026301	T	0.70430	0.3223	N	0.01686	-0.76	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.57021	-0.7882	10	0.23302	T	0.38	.	3.7746	0.08654	0.355:0.0:0.645:0.0	.	1017;1017	Q9UES7;O75197	.;LRP5_HUMAN	N	1017	ENSP00000294304:S1017N	ENSP00000294304:S1017N	S	+	2	0	LRP5	67947555	0.462000	0.25791	0.147000	0.22382	0.899000	0.52679	2.704000	0.47118	2.260000	0.74910	0.485000	0.47835	AGC	LRP5	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68190979	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.184	A
MAGEE1	57692	genome.wustl.edu	37	X	75651040	75651040	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:75651040G>A	ENST00000361470.2	+	1	2995	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	906	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTAGAGCCCGTTTGGAAACC	0.483																																																	0													79.0	74.0	76.0					X																	75651040		2203	4300	6503	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2717G>A	X.37:g.75651040G>A	ENSP00000354912:p.Arg906His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R906H	ENST00000361470.2	37	c.2717	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	.	6.759	0.508865	0.12883	.	.	ENSG00000198934	ENST00000361470	T	0.04603	3.59	2.21	2.21	0.28008	.	.	.	.	.	T	0.02688	0.0081	N	0.00280	-1.71	0.26582	N	0.973364	D	0.89917	1.0	D	0.69307	0.963	T	0.47045	-0.9147	9	0.13470	T	0.59	.	7.167	0.25695	0.0:0.0:1.0:0.0	.	906	Q9HCI5	MAGE1_HUMAN	H	906	ENSP00000354912:R906H	ENSP00000354912:R906H	R	+	2	0	MAGEE1	75567444	0.937000	0.31787	0.918000	0.36340	0.951000	0.60555	0.550000	0.23345	1.380000	0.46344	0.529000	0.55759	CGT	MAGEE1	-	pfam_MAGE,pfscan_MAGE		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75651040	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.898	A
MAPK1	5594	genome.wustl.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T
MAST1	22983	genome.wustl.edu	37	19	12978425	12978425	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr19:12978425G>A	ENST00000251472.4	+	19	2316	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGGGCGGCCTGACCCTGCGTG	0.682																																																	0													15.0	19.0	17.0					19																	12978425		2198	4295	6493	SO:0001819	synonymous_variant	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2277G>A	19.37:g.12978425G>A				Silent	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.L759	ENST00000251472.4	37	c.2277	CCDS32921.1	19																																																																																			MAST1	-	NULL		0.682	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12978425	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	silent	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13176163	13176163	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:13176163G>A	ENST00000319217.7	-	20	3150	c.2903C>T	c.(2902-2904)cCt>cTt	p.P968L	MPDZ_ENST00000536827.1_Missense_Mutation_p.P968L|MPDZ_ENST00000541718.1_Missense_Mutation_p.P968L|MPDZ_ENST00000381022.2_Missense_Mutation_p.P968L|MPDZ_ENST00000546205.1_Missense_Mutation_p.P968L|MPDZ_ENST00000381015.4_Missense_Mutation_p.P968L|MPDZ_ENST00000447879.1_Missense_Mutation_p.P968L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	968					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)		TAGCACAGAAGGAAGTTCTGC	0.353																																																	0													99.0	81.0	87.0					9																	13176163		1853	4091	5944	SO:0001583	missense	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.2903C>T	9.37:g.13176163G>A	ENSP00000320006:p.Pro968Leu		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.P968L	ENST00000319217.7	37	c.2903		9	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253809	0.22965	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10288	2.94;2.89;2.89;2.89;2.94;2.94;2.94	5.91	4.08	0.47627	.	0.869093	0.09712	N	0.765519	T	0.06142	0.0159	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.18013	0.025;0.0;0.0	B;B;B	0.13407	0.009;0.0;0.001	T	0.43245	-0.9403	10	0.23302	T	0.38	.	9.3055	0.37872	0.0781:0.3368:0.5851:0.0	.	968;968;968	B7ZMI4;O75970-3;O75970-2	.;.;.	L	968;968;968;968;968;968;918;968	ENSP00000320006:P968L;ENSP00000439807:P968L;ENSP00000370410:P968L;ENSP00000444151:P968L;ENSP00000415208:P968L;ENSP00000370403:P968L;ENSP00000446358:P968L	ENSP00000320006:P968L	P	-	2	0	MPDZ	13166163	0.067000	0.21026	0.032000	0.17829	0.591000	0.36615	0.824000	0.27379	0.834000	0.34852	0.655000	0.94253	CCT	MPDZ	-	NULL		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13176163	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	0.015	A
MIR4477B	100616194	genome.wustl.edu	37	9	68415379	68415379	+	RNA	SNP	G	G	A	rs34379288		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:68415379G>A	ENST00000581659.1	+	0	72					NR_039688.1|NR_039689.1				microRNA 4477b																		tgtgattgatgggaggaggat	0.408																																																	0																																												100616194					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68415379G>A				RNA	SNP	-	NULL	ENST00000581659.1	37	NULL		9																																																																																			MIR4477B	-	-		0.408	MIR4477B-201	KNOWN	basic	miRNA	MIR4477B	HGNC	miRNA		G	NR_039689		68415379	+1	no_errors	ENST00000581659	ensembl	human	known	70_37	rna	SNP	0.197	A
MPP5	64398	genome.wustl.edu	37	14	67770295	67770295	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr14:67770295G>A	ENST00000261681.4	+	8	1681	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	MPP5_ENST00000555925.1_Silent_p.P306P	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	340					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGATCAAGCCGCCTCCTGCCA	0.338																																																	0													103.0	107.0	106.0					14																	67770295		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1020G>A	14.37:g.67770295G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,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.P340	ENST00000261681.4	37	c.1020	CCDS9779.1	14																																																																																			MPP5	-	superfamily_SH3_domain,superfamily_PDZ		0.338	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67770295	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	silent	SNP	0.893	A
MRPL22	29093	genome.wustl.edu	37	5	154330430	154330430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:154330430C>T	ENST00000523037.1	+	3	168	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69*|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	43					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACATTTCTCGAAAATGGGA	0.393																																																	0													115.0	112.0	113.0					5																	154330430		2203	4300	6503	SO:0001587	stop_gained	29093			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.127C>T	5.37:g.154330430C>T	ENSP00000431040:p.Arg43*		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Nonsense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.R43*	ENST00000523037.1	37	c.127	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775282	0.70107	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	.	.	.	4.9	-0.777	0.10981	.	0.334305	0.31031	N	0.008388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2585	3.4261	0.07412	0.2748:0.2332:0.404:0.088	.	.	.	.	X	43;69;49	.	ENSP00000411177:R69X	R	+	1	2	MRPL22	154310623	0.811000	0.29063	0.989000	0.46669	0.951000	0.60555	0.787000	0.26858	0.128000	0.18479	0.591000	0.81541	CGA	MRPL22	-	NULL		0.393	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	C			154330430	+1	no_errors	ENST00000523037	ensembl	human	known	70_37	nonsense	SNP	0.035	T
FRMD7	90167	genome.wustl.edu	37	X	131208175	131208175	+	IGR	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:131208175C>T	ENST00000298542.4	-	0	3198				MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000481105.1_Silent_p.D435D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000394334.2_Silent_p.D413D|MST4_ENST00000394335.2_Silent_p.D336D	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7						regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D413D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363													C|||	1	0.000264901	0.0	0.0014	3775	,	,		11124	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)											99.0	97.0	98.0					X																	131208175		2203	4298	6501	SO:0001628	intergenic_variant	51765			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421		X.37:g.131208175C>T			C0LLJ3|Q5JX99	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D413	ENST00000298542.4	37	c.1239	CCDS35397.1	X																																																																																			MST4	-	NULL		0.363	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST4	Uniprot_genename	protein_coding	OTTHUMT00000355031.1	C	NM_194277		131208175	+1	no_errors	ENST00000394334	ensembl	human	known	70_37	silent	SNP	0.999	T
NLRP6	171389	genome.wustl.edu	37	11	284302	284302	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:284302G>A	ENST00000312165.5	+	6	2274	c.2274G>A	c.(2272-2274)ctG>ctA	p.L758L	NLRP6_ENST00000534750.1_Silent_p.L757L	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	758					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)		CCCCCGCACTGACGGAGCTGG	0.637																																																	0													42.0	43.0	42.0					11																	284302		2203	4300	6503	SO:0001819	synonymous_variant	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.2274G>A	11.37:g.284302G>A			A8K9F3|E9PJZ8	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L758	ENST00000312165.5	37	c.2274	CCDS7693.1	11																																																																																			NLRP6	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.637	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		284302	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	silent	SNP	0.691	A
NUP210L	91181	genome.wustl.edu	37	1	153995690	153995690	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:153995690C>T	ENST00000368559.3	-	31	4277	c.4206G>A	c.(4204-4206)ttG>ttA	p.L1402L	NUP210L_ENST00000271854.3_Silent_p.L1402L|NUP210L_ENST00000368553.1_Silent_p.L335L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1402					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGACATGCCCAAGGGAAATG	0.483																																																	0													124.0	125.0	125.0					1																	153995690		1943	4133	6076	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4206G>A	1.37:g.153995690C>T			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L1402	ENST00000368559.3	37	c.4206	CCDS41399.1	1																																																																																			NUP210L	-	NULL		0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		153995690	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	silent	SNP	1.000	T
OR5P2	120065	genome.wustl.edu	37	11	7818375	7818375	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:7818375G>A	ENST00000329434.2	-	1	145	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	39						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(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTATGCTGAGATTACCAGAT	0.433																																																	0													59.0	73.0	68.0					11																	7818375		2102	4292	6394	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.115C>T	11.37:g.7818375G>A	ENSP00000331823:p.Leu39Phe		Q3MIS8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L39F	ENST00000329434.2	37	c.115	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	G	6.575	0.474445	0.12521	.	.	ENSG00000183303	ENST00000329434	T	0.00438	7.42	5.5	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.222169	0.32287	N	0.006319	T	0.00440	0.0014	M	0.68593	2.085	0.30706	N	0.749803	B	0.28082	0.2	B	0.30782	0.12	T	0.07654	-1.0761	10	0.66056	D	0.02	-67.6348	8.9021	0.35501	0.0785:0.0:0.7733:0.1482	.	39	Q8WZ92	OR5P2_HUMAN	F	39	ENSP00000331823:L39F	ENSP00000331823:L39F	L	-	1	0	OR5P2	7774951	0.000000	0.05858	0.837000	0.33122	0.025000	0.11179	-0.396000	0.07278	0.847000	0.35167	0.555000	0.69702	CTC	OR5P2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	G	NM_153444		7818375	-1	no_errors	ENST00000329434	ensembl	human	known	70_37	missense	SNP	0.824	A
OR8U1	219417	genome.wustl.edu	37	11	56143175	56143175	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:56143175C>T	ENST00000302270.1	+	1	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GTTGAAGATGCCCCTCTTTGT	0.458																																																	0													209.0	185.0	193.0					11																	56143175		1914	4126	6040	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.76C>T	11.37:g.56143175C>T	ENSP00000304188:p.Pro26Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P26S	ENST00000302270.1	37	c.76	CCDS41647.1	11	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514226	0.27123	.	.	ENSG00000172199	ENST00000302270	T	0.00424	7.45	5.87	3.98	0.46160	.	0.000000	0.47852	D	0.000219	T	0.00695	0.0023	M	0.69823	2.125	0.09310	N	1	D	0.53462	0.96	P	0.55260	0.772	T	0.49781	-0.8903	10	0.45353	T	0.12	.	9.8401	0.40993	0.141:0.7873:0.0:0.0717	.	26	Q8NH10	OR8U1_HUMAN	S	26	ENSP00000304188:P26S	ENSP00000304188:P26S	P	+	1	0	OR8U1	55899751	0.000000	0.05858	0.314000	0.25224	0.000000	0.00434	-0.033000	0.12246	1.473000	0.48159	-0.195000	0.12781	CCC	OR8U1	-	prints_GPCR_Rhodpsn		0.458	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8U1	HGNC	protein_coding	OTTHUMT00000391607.1	C	NM_001005204		56143175	+1	no_errors	ENST00000302270	ensembl	human	known	70_37	missense	SNP	0.003	T
OSBPL3	26031	genome.wustl.edu	37	7	24874252	24874252	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr7:24874252C>T	ENST00000313367.2	-	15	2050	c.1599G>A	c.(1597-1599)agG>agA	p.R533R	OSBPL3_ENST00000396429.1_Silent_p.R497R|OSBPL3_ENST00000409069.1_Silent_p.R466R|OSBPL3_ENST00000353930.1_Silent_p.R497R|OSBPL3_ENST00000431825.2_Silent_p.R466R|OSBPL3_ENST00000396431.1_Silent_p.R502R|OSBPL3_ENST00000352860.1_Silent_p.R502R	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	533					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						CGATGTTGTTCCTCAGGATGT	0.617																																																	0													117.0	99.0	105.0					7																	24874252		2203	4300	6503	SO:0001819	synonymous_variant	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.1599G>A	7.37:g.24874252C>T			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R533	ENST00000313367.2	37	c.1599	CCDS5390.1	7																																																																																			OSBPL3	-	pfam_Oxysterol-bd		0.617	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	C			24874252	-1	no_errors	ENST00000313367	ensembl	human	known	70_37	silent	SNP	0.448	T
PCDH11X	27328	genome.wustl.edu	37	X	91090517	91090517	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:91090517C>T	ENST00000373094.1	+	1	859	c.14C>T	c.(13-15)tCc>tTc	p.S5F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S5F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S5F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S5F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S5F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S5F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	5					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACTTGTTGTCCGGGACGTAC	0.473																																					NSCLC(38;925 1092 2571 38200 45895)												0													127.0	105.0	112.0					X																	91090517		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.14C>T	X.37:g.91090517C>T	ENSP00000362186:p.Ser5Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S5F	ENST00000373094.1	37	c.14	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867083	0.32977	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54479	0.57;0.61;0.63;0.57;0.63;0.6;0.6;0.63;0.63	4.46	4.46	0.54185	.	0.157096	0.45606	D	0.000353	T	0.42223	0.1193	N	0.24115	0.695	0.40934	D	0.984413	B;B;B;B;B;B;B;B	0.20368	0.019;0.009;0.044;0.044;0.044;0.026;0.008;0.008	B;B;B;B;B;B;B;B	0.23852	0.033;0.02;0.049;0.049;0.049;0.022;0.015;0.015	T	0.44452	-0.9327	10	0.72032	D	0.01	.	15.517	0.75833	0.0:1.0:0.0:0.0	.	5;5;5;5;5;5;5;5	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	5	ENSP00000378746:S5F;ENSP00000362186:S5F;ENSP00000362189:S5F;ENSP00000355040:S5F;ENSP00000362180:S5F;ENSP00000423762:S5F;ENSP00000355105:S5F;ENSP00000384758:S5F;ENSP00000298274:S5F	ENSP00000298274:S5F	S	+	2	0	PCDH11X	90977173	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.523000	0.60545	1.935000	0.56089	0.415000	0.27848	TCC	PCDH11X	-	NULL		0.473	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91090517	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHB11	56125	genome.wustl.edu	37	5	140580689	140580689	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:140580689G>A	ENST00000354757.3	+	1	1342	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A83T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCACCTT	0.567																																																	0													147.0	131.0	137.0					5																	140580689		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1342G>A	5.37:g.140580689G>A	ENSP00000346802:p.Ala448Thr		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A448T	ENST00000354757.3	37	c.1342	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961618	0.53400	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.03181	4.02;4.02	2.52	-2.58	0.06228	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.07098	0.0180	M	0.85945	2.785	0.25190	N	0.990133	B	0.20988	0.05	B	0.22753	0.041	T	0.27571	-1.0070	9	0.56958	D	0.05	.	7.8313	0.29344	0.0:0.3274:0.4202:0.2524	.	448	Q9Y5F2	PCDBB_HUMAN	T	83;448	ENSP00000440344:A83T;ENSP00000346802:A448T	ENSP00000346802:A448T	A	+	1	0	PCDHB11	140560873	0.000000	0.05858	0.719000	0.30619	0.011000	0.07611	-0.570000	0.05895	-0.348000	0.08286	-2.633000	0.00153	GCC	PCDHB11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140580689	+1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.467	A
PIK3C2A	5286	genome.wustl.edu	37	11	17118705	17118705	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:17118705G>A	ENST00000265970.7	-	26	4224	c.4225C>T	c.(4225-4227)Ctt>Ttt	p.L1409F	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1029F|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1409					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GAAAATGAAAGGATGGGCTCA	0.363																																																	0													120.0	116.0	117.0					11																	17118705		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4225C>T	11.37:g.17118705G>A	ENSP00000265970:p.Leu1409Phe		B0LPH2|B4E2G4|Q14CQ9	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_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L1409F	ENST00000265970.7	37	c.4225	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.084440	0.94100	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.71341	-0.56;0.01	6.07	6.07	0.98685	.	0.058049	0.64402	D	0.000001	D	0.85106	0.5621	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.83956	0.0319	10	0.52906	T	0.07	-17.0414	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1409	O00443	P3C2A_HUMAN	F	1409;1029	ENSP00000265970:L1409F;ENSP00000438687:L1029F	ENSP00000265970:L1409F	L	-	1	0	PIK3C2A	17075281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.878000	0.87231	2.885000	0.99019	0.655000	0.94253	CTT	PIK3C2A	-	NULL		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17118705	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	1.000	A
PLA2R1	22925	genome.wustl.edu	37	2	160901448	160901448	+	Silent	SNP	G	G	A	rs147284017	byFrequency	TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:160901448G>A	ENST00000283243.7	-	2	536	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_ENST00000392771.1_Silent_p.L110L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	110	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542																																																	0													77.0	76.0	76.0					2																	160901448		2203	4300	6503	SO:0001819	synonymous_variant	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.330C>T	2.37:g.160901448G>A			B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L110	ENST00000283243.7	37	c.330	CCDS33309.1	2																																																																																			PLA2R1	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.542	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	G			160901448	-1	no_errors	ENST00000283243	ensembl	human	known	70_37	silent	SNP	0.000	A
PLXNA2	5362	genome.wustl.edu	37	1	208224391	208224391	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr1:208224391C>T	ENST00000367033.3	-	17	3975	c.3218G>A	c.(3217-3219)aGg>aAg	p.R1073K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1073	IPT/TIG 3.				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)	p.R1073M(1)		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)		GACTCGGATCCTTGGCTCCTG	0.478																																																	1	Substitution - Missense(1)	lung(1)											116.0	109.0	111.0					1																	208224391		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.3218G>A	1.37:g.208224391C>T	ENSP00000356000:p.Arg1073Lys		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.R1073K	ENST00000367033.3	37	c.3218	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395923	0.62177	.	.	ENSG00000076356	ENST00000367033	T	0.75154	-0.91	5.24	5.24	0.73138	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	L	0.41027	1.25	0.80722	D	1	B	0.29378	0.243	B	0.31101	0.124	T	0.65150	-0.6238	10	0.29301	T	0.29	.	18.8474	0.92212	0.0:1.0:0.0:0.0	.	1073	O75051	PLXA2_HUMAN	K	1073	ENSP00000356000:R1073K	ENSP00000356000:R1073K	R	-	2	0	PLXNA2	206291014	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.724000	0.61972	2.440000	0.82611	0.557000	0.71058	AGG	PLXNA2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.478	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208224391	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	missense	SNP	1.000	T
PPIL1	51645	genome.wustl.edu	37	6	36823502	36823503	+	3'UTR	INS	-	-	A	rs3216837|rs397709399|rs397822691	byFrequency	TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:36823502_36823503insA	ENST00000373699.5	-	0	838_839				PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1						mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						AAGCCAAAATGAATTTAGCATT	0.446													AAA|AA|AAA|deletion	1747	0.348842	0.2504	0.3775	5008	,	,		21877	0.4097		0.4314	False		,,,				2504	0.3139																0																																										SO:0001624	3_prime_UTR_variant	51645			AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.*87->T	6.37:g.36823504_36823504dupA			O15001|Q5TDC9	RNA	INS	-	NULL	ENST00000373699.5	37	NULL	CCDS4826.1	6																																																																																			PPIL1	-	-		0.446	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL1	HGNC	protein_coding	OTTHUMT00000040382.1	-			36823503	-1	no_errors	ENST00000483552	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
PTGER4	5734	genome.wustl.edu	37	5	40681122	40681122	+	Silent	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:40681122C>T	ENST00000302472.3	+	2	1051	c.27C>T	c.(25-27)tcC>tcT	p.S9S	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	9					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCAATTCGTCCGCCTCCTTGA	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57.0	59.0	58.0					5																	40681122		2203	4300	6503	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.27C>T	5.37:g.40681122C>T		895	Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S9	ENST00000302472.3	37	c.27	CCDS3930.1	5																																																																																			PTGER4	-	prints_Prost_EP4_rcpt		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681122	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.065	T
PTPRG	5793	genome.wustl.edu	37	3	62253428	62253428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:62253428G>A	ENST00000474889.1	+	19	3185	c.2808G>A	c.(2806-2808)tgG>tgA	p.W936*	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.W907*|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	936	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAGATTTCTGGAGGATGATTT	0.388																																																	0													159.0	151.0	154.0					3																	62253428		2203	4300	6503	SO:0001587	stop_gained	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2808G>A	3.37:g.62253428G>A	ENSP00000418112:p.Trp936*		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.W936*	ENST00000474889.1	37	c.2808	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.278596	0.99373	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	.	.	.	X	936;907	.	ENSP00000295874:W907X	W	+	3	0	PTPRG	62228468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.767000	0.95098	0.655000	0.94253	TGG	PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.388	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841		62253428	+1	no_errors	ENST00000474889	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PTPRK	5796	genome.wustl.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T	rs369678964		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:128505667C>T	ENST00000368215.3	-	7	1071	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1. {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)		ATCTCATATTCGGTATCTGGA	0.458																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	170.0	155.0	160.0		1072,1072	5.5	1.0	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/1447,358/1441	128505667	1,13005	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.1072G>A	6.37:g.128505667C>T	ENSP00000357198:p.Glu358Lys		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.E358K	ENST00000368215.3	37	c.1072		6	.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	PTPRK	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA	PTPRK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128505667	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	0.999	T
RNF111	54778	genome.wustl.edu	37	15	59387291	59387292	+	3'UTR	INS	-	-	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr15:59387291_59387292insT	ENST00000557998.1	+	0	3464_3465				RNF111_ENST00000561186.1_3'UTR|RNF111_ENST00000348370.4_3'UTR|RNF111_ENST00000560080.1_3'UTR|RNF111_ENST00000434298.1_3'UTR|RNF111_ENST00000559209.1_3'UTR	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111						gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|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)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTTATAAAAGCTTTTTTTTCTA	0.327																																					NSCLC(72;983 1365 10746 34387 47081)												0																																										SO:0001624	3_prime_UTR_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.*193->T	15.37:g.59387299_59387299dupT			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	RNA	INS	-	NULL	ENST00000557998.1	37	NULL	CCDS58366.1	15																																																																																			RNF111	-	-		0.327	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	NM_017610		59387292	+1	no_errors	ENST00000560080	ensembl	human	known	70_37	rna	INS	0.977:0.995	T
SLC5A6	8884	genome.wustl.edu	37	2	27426071	27426071	+	Intron	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:27426071G>A	ENST00000310574.3	-	11	1681				SLC5A6_ENST00000408041.1_Intron|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6						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)	GAAAGACCCAGACTGAAGAGA	0.502																																																	0													64.0	68.0	66.0					2																	27426071		2203	4300	6503	SO:0001627	intron_variant	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.1207+29C>T	2.37:g.27426071G>A			B2RB85|D6W549|Q969Y5	RNA	SNP	-	NULL	ENST00000310574.3	37	NULL	CCDS1740.1	2																																																																																			SLC5A6	-	-		0.502	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27426071	-1	no_errors	ENST00000461319	ensembl	human	known	70_37	rna	SNP	0.000	A
SMARCA2	6595	genome.wustl.edu	37	9	2086856	2086856	+	Missense_Mutation	SNP	G	G	A	rs281875199		TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:2086856G>A	ENST00000382203.1	+	18	2763	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E852K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E852K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E852K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	852	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		E -> D (in NCBRS; dbSNP:rs281875193). {ECO:0000269|PubMed:22366787}.|E -> K (in NCBRS; dbSNP:rs281875199). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATAGTGGACGAAGGCCACCG	0.488																																																	0													86.0	80.0	82.0					9																	2086856		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2554G>A	9.37:g.2086856G>A	ENSP00000371638:p.Glu852Lys		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,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.E852K	ENST00000382203.1	37	c.2554	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.281442	0.95489	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36	5.8	5.8	0.92144	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99668	4.69	0.80722	D	1	D;P;P	0.89917	1.0;0.761;0.799	D;B;B	0.97110	1.0;0.197;0.298	D	0.96202	0.9146	10	0.87932	D	0	-17.4213	20.0637	0.97700	0.0:0.0:1.0:0.0	.	453;852;852	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	K	852	ENSP00000265773:E852K;ENSP00000349788:E852K;ENSP00000371638:E852K;ENSP00000371629:E852K	ENSP00000265773:E852K	E	+	1	0	SMARCA2	2076856	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.798000	0.99111	2.751000	0.94390	0.650000	0.86243	GAA	SMARCA2	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.488	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2086856	+1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	1.000	A
STAT2	6773	genome.wustl.edu	37	12	56737713	56737713	+	Missense_Mutation	SNP	A	A	G			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr12:56737713A>G	ENST00000314128.4	-	23	2332	c.2309T>C	c.(2308-2310)gTa>gCa	p.V770A	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.V766A			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	770					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)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGTTTGTGATACCATGCATAG	0.542																																																	0													167.0	147.0	154.0					12																	56737713		2203	4300	6503	SO:0001583	missense	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.2309T>C	12.37:g.56737713A>G	ENSP00000315768:p.Val770Ala		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	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.V770A	ENST00000314128.4	37	c.2309	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	A	4.283	0.051746	0.08291	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.85013	-1.92;-1.93	3.34	-0.73	0.11154	.	.	.	.	.	T	0.72938	0.3523	L	0.60455	1.87	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.55101	-0.8193	9	0.02654	T	1	1.3404	0.7071	0.00918	0.4662:0.2096:0.121:0.2031	.	766;770	G3V2M6;P52630	.;STAT2_HUMAN	A	770;766	ENSP00000315768:V770A;ENSP00000450751:V766A	ENSP00000315768:V770A	V	-	2	0	STAT2	55023980	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.624000	0.02038	-0.134000	0.11516	-0.441000	0.05720	GTA	STAT2	-	NULL		0.542	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	A	NM_005419		56737713	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	missense	SNP	0.000	G
TBCB	1155	genome.wustl.edu	37	19	36612624	36612624	+	Intron	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr19:36612624C>T	ENST00000221855.3	+	4	1122				TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000589996.1_Intron|TBCB_ENST00000586868.1_Intron|TBCB_ENST00000585746.1_Intron	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B						'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TATGTAGGTGCGTGGCTCGCG	0.716																																																	0													4.0	6.0	5.0					19																	36612624		2079	4096	6175	SO:0001627	intron_variant	1155			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"""cytoskeleton-associated protein 1"", ""cytoskeleton associated protein 1"""	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.547+4C>T	19.37:g.36612624C>T			O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	superfamily_CAP-Gly_domain	p.A133V	ENST00000221855.3	37	c.398	CCDS12488.1	19	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782277	0.49891	.	.	ENSG00000105254	ENST00000392178	.	.	.	5.32	-10.4	0.00318	.	.	.	.	.	T	0.41880	0.1178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52011	-0.8632	4	.	.	.	.	6.2284	0.20722	0.3002:0.1646:0.0:0.5352	.	.	.	.	V	184	.	.	A	+	2	0	TBCB	41304464	0.352000	0.24895	0.208000	0.23602	0.086000	0.17979	-0.177000	0.09796	-1.136000	0.02892	-0.362000	0.07510	GCG	TBCB	-	NULL		0.716	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCB	HGNC	protein_coding	OTTHUMT00000156291.2	C	NM_001281		36612624	+1	no_errors	ENST00000589308	ensembl	human	putative	70_37	missense	SNP	0.488	T
TCEB3CL	728929	genome.wustl.edu	37	18	44549025	44549026	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr18:44549025_44549026insGC	ENST00000451265.1	-	1	1508_1509	c.1273_1274insGC	c.(1273-1275)cagfs	p.Q425fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	425	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TCGCAGCCGCTGCTCTCGGGCG	0.554																																																	0									,	43,255		12,19,118					,	0.4	0.1			2	484,712		161,162,275	no	intron,frameshift	KATNAL2,TCEB3CL	NM_031303.2,NM_001100817.1	,	173,181,393	A1A1,A1R,RR		40.4682,14.4295,35.2744	,	,		527,967				SO:0001589	frameshift_variant	728929					18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1272_1273dupGC	18.37:g.44549026_44549027dupGC	ENSP00000409932:p.Gln425fs		Q3MI93	Frame_Shift_Ins	INS	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.Q425fs	ENST00000451265.1	37	c.1274_1273	CCDS42433.1	18																																																																																			TCEB3CL	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.554	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL	HGNC	protein_coding	OTTHUMT00000451071.1	-	XM_001132059		44549026	-1	no_errors	ENST00000451265	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GC
TFAP2B	7021	genome.wustl.edu	37	6	50803940	50803940	+	Silent	SNP	G	G	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:50803940G>T	ENST00000393655.3	+	4	937	c.768G>T	c.(766-768)cgG>cgT	p.R256R	TFAP2B_ENST00000263046.4_Silent_p.R265R	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	256					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTCAGAGACGGCTGTCGCCCC	0.493																																					Pancreas(116;1373 2332 5475 10752)												0													56.0	53.0	54.0					6																	50803940		2203	4300	6503	SO:0001819	synonymous_variant	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.768G>T	6.37:g.50803940G>T			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.R265	ENST00000393655.3	37	c.795	CCDS4934.2	6																																																																																			TFAP2B	-	pfam_TF_AP2_C		0.493	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	G	NM_003221		50803940	+1	no_errors	ENST00000263046	ensembl	human	known	70_37	silent	SNP	0.935	T
TINAG	27283	genome.wustl.edu	37	6	54214628	54214628	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr6:54214628T>A	ENST00000259782.4	+	7	1110	c.1014T>A	c.(1012-1014)tgT>tgA	p.C338*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	338					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CGAAGCCATGTCCCAACAACG	0.443																																																	0													146.0	135.0	139.0					6																	54214628		2203	4300	6503	SO:0001587	stop_gained	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1014T>A	6.37:g.54214628T>A	ENSP00000259782:p.Cys338*		Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.C338*	ENST00000259782.4	37	c.1014	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	T	41	8.722599	0.98929	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.87	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5922	0.28027	0.0:0.3624:0.0:0.6376	.	.	.	.	X	197;338;17	.	ENSP00000259782:C338X	C	+	3	2	TINAG	54322587	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	-0.006000	0.12833	0.139000	0.18822	0.482000	0.46254	TGT	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.443	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	T	NM_014464		54214628	+1	no_errors	ENST00000259782	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TNK2	10188	genome.wustl.edu	37	3	195610077	195610077	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr3:195610077C>T	ENST00000333602.6	-	5	1177	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	TNK2_ENST00000316664.3_Missense_Mutation_p.R187Q|TNK2_ENST00000428187.1_Missense_Mutation_p.R219Q|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Missense_Mutation_p.R250Q|TNK2_ENST00000392400.1_Missense_Mutation_p.R187Q	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GATGAGGTTTCGGTGGTCGAG	0.642																																																	0													98.0	77.0	84.0					3																	195610077		2203	4300	6503	SO:0001583	missense	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.560G>A	3.37:g.195610077C>T	ENSP00000329425:p.Arg187Gln		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,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_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R250Q	ENST00000333602.6	37	c.749	CCDS33928.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.438911|1.438911	0.25900|0.25900	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000438207|ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	.|T;T;T;T;T	.|0.62788	.|0.0;0.0;0.0;0.0;0.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.277928	.|0.35615	.|N	.|0.003099	T|T	0.38719|0.38719	0.1051|0.1051	N|N	0.11023|0.11023	0.085|0.085	0.30570|0.30570	N|N	0.763639|0.763639	.|B;B;B;B;B	.|0.31274	.|0.021;0.001;0.317;0.178;0.115	.|B;B;B;B;B	.|0.19148	.|0.001;0.002;0.024;0.004;0.009	T|T	0.40040|0.40040	-0.9584|-0.9584	5|10	.|0.25751	.|T	.|0.34	.|.	12.88|12.88	0.58012|0.58012	0.1628:0.8372:0.0:0.0|0.1628:0.8372:0.0:0.0	.|.	.|187;63;187;250;219	.|Q07912-2;Q59FX1;Q07912;Q07912-3;C9J1X3	.|.;.;ACK1_HUMAN;.;.	K|Q	112|187;250;219;187;187	.|ENSP00000329425:R187Q;ENSP00000371341:R250Q;ENSP00000392546:R219Q;ENSP00000376201:R187Q;ENSP00000323216:R187Q	.|ENSP00000323216:R187Q	E|R	-|-	1|2	0|0	TNK2|TNK2	197094474|197094474	0.957000|0.957000	0.32711|0.32711	0.998000|0.998000	0.56505|0.56505	0.881000|0.881000	0.50899|0.50899	1.458000|1.458000	0.35223|0.35223	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GAA|CGA	TNK2	-	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		0.642	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	C	NM_005781		195610077	-1	no_errors	ENST00000381916	ensembl	human	known	70_37	missense	SNP	0.976	T
TNNC2	7125	genome.wustl.edu	37	20	44453153	44453153	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr20:44453153G>A	ENST00000372555.3	-	3	272	c.180C>T	c.(178-180)atC>atT	p.I60I	TNNC2_ENST00000372557.1_Silent_p.I45I	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCACCTCCTCGATGATGGCGT	0.647																																																	0													130.0	103.0	112.0					20																	44453153		2203	4300	6503	SO:0001819	synonymous_variant	7125				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.180C>T	20.37:g.44453153G>A			Q6FH92	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I60	ENST00000372555.3	37	c.180	CCDS13375.1	20																																																																																			TNNC2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.647	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	G	NM_003279		44453153	-1	no_errors	ENST00000372555	ensembl	human	known	70_37	silent	SNP	0.999	A
TRIM51	84767	genome.wustl.edu	37	11	55653082	55653082	+	Missense_Mutation	SNP	C	C	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr11:55653082C>T	ENST00000449290.2	+	2	270	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	60						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GAAGACAACGCGGCAGAGAAA	0.498																																																	0													43.0	36.0	38.0					11																	55653082		692	1591	2283	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.178C>T	11.37:g.55653082C>T	ENSP00000395086:p.Arg60Trp		A6NMG2	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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R60W	ENST00000449290.2	37	c.178		11	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212288	0.06140	.	.	ENSG00000124900	ENST00000449290	D	0.84298	-1.83	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.65080	0.2657	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.51679	-0.8675	9	0.45353	T	0.12	.	2.6838	0.05102	0.3103:0.3788:0.3109:0.0	.	60	Q9BSJ1	SPRY5_HUMAN	W	60	ENSP00000395086:R60W	ENSP00000395086:R60W	R	+	1	2	SPRYD5	55409658	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.145000	0.16157	-0.235000	0.09767	0.152000	0.16155	CGG	TRIM51	-	NULL		0.498	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	C	NM_032681		55653082	+1	no_errors	ENST00000449290	ensembl	human	known	70_37	missense	SNP	0.000	T
TSN	7247	genome.wustl.edu	37	2	122516333	122516333	+	Missense_Mutation	SNP	A	A	G			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:122516333A>G	ENST00000389682.3	+	3	455	c.208A>G	c.(208-210)Aca>Gca	p.T70A	TSN_ENST00000498545.1_Intron|TSN_ENST00000536142.1_Missense_Mutation_p.T70A|TSN_ENST00000409193.1_Missense_Mutation_p.T65A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	70					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TACAGTAAAAACACATCTAAC	0.294																																																	0													81.0	83.0	82.0					2																	122516333		2203	4300	6503	SO:0001583	missense	7247			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.208A>G	2.37:g.122516333A>G	ENSP00000374332:p.Thr70Ala		B7Z3X8|Q5U0K7	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.T70A	ENST00000389682.3	37	c.208	CCDS33284.1	2	.	.	.	.	.	.	.	.	.	.	A	7.313	0.615426	0.14129	.	.	ENSG00000211460	ENST00000389682;ENST00000536142;ENST00000413418;ENST00000409193	.	.	.	5.32	4.17	0.49024	Translin, N-terminal (1);	0.158191	0.56097	D	0.000032	T	0.28333	0.0700	N	0.12471	0.22	0.35933	D	0.832687	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.18241	-1.0343	9	0.09338	T	0.73	-12.7107	7.9286	0.29889	0.8408:0.0:0.1592:0.0	.	70;23;70	B7Z3X8;B3KRM8;Q15631	.;.;TSN_HUMAN	A	70;70;36;65	.	ENSP00000374332:T70A	T	+	1	0	TSN	122232803	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.505000	0.60421	0.862000	0.35528	-0.274000	0.10170	ACA	TSN	-	pfam_Translin,superfamily_Translin		0.294	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSN	HGNC	protein_coding	OTTHUMT00000330767.1	A	NM_004622		122516333	+1	no_errors	ENST00000389682	ensembl	human	known	70_37	missense	SNP	1.000	G
TYSND1	219743	genome.wustl.edu	37	10	71899626	71899626	+	3'UTR	SNP	C	C	G			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr10:71899626C>G	ENST00000287078.6	-	0	1754				TYSND1_ENST00000335494.5_3'UTR|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1						protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						ACCTCAACATCACTTCCTACA	0.622																																																	0																																										SO:0001624	3_prime_UTR_variant	219743			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.*54G>C	10.37:g.71899626C>G			Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	RNA	SNP	-	NULL	ENST00000287078.6	37	NULL	CCDS31213.1	10																																																																																			TYSND1	-	-		0.622	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYSND1	HGNC	protein_coding	OTTHUMT00000048483.1	C	NM_173555		71899626	-1	no_errors	ENST00000479086	ensembl	human	known	70_37	rna	SNP	0.000	G
UCKL1	54963	genome.wustl.edu	37	20	62575995	62575995	+	Silent	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr20:62575995G>A	ENST00000354216.6	-	6	789	c.747C>T	c.(745-747)atC>atT	p.I249I	UCKL1_ENST00000358711.3_Silent_p.I249I|UCKL1_ENST00000369908.5_Silent_p.I234I|UCKL1_ENST00000369892.3_Silent_p.I249I|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000492660.1_5'Flank	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	249					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGACACCCTCGATGTCCCGGC	0.602																																																	0													187.0	112.0	137.0					20																	62575995		2199	4299	6498	SO:0001819	synonymous_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.747C>T	20.37:g.62575995G>A			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.I249	ENST00000354216.6	37	c.747	CCDS13547.1	20																																																																																			UCKL1	-	pfam_PRK/URK,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase		0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	G	NM_017859		62575995	-1	no_errors	ENST00000354216	ensembl	human	known	70_37	silent	SNP	0.976	A
USP40	55230	genome.wustl.edu	37	2	234429677	234429677	+	Missense_Mutation	SNP	G	G	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr2:234429677G>C	ENST00000427112.2	-	16	2317	c.2282C>G	c.(2281-2283)tCt>tGt	p.S761C	USP40_ENST00000251722.6_Missense_Mutation_p.S761C|USP40_ENST00000450966.1_Missense_Mutation_p.S773C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	761					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTCTCTTCAGATTCTAACTG	0.333																																																	0													115.0	105.0	108.0					2																	234429677		1822	4068	5890	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2282C>G	2.37:g.234429677G>C	ENSP00000387898:p.Ser761Cys		Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S773C	ENST00000427112.2	37	c.2318	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111979	0.37242	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.43	4.5	0.54988	.	2.570310	0.01162	N	0.006665	T	0.49338	0.1551	L	0.48362	1.52	0.26255	N	0.978663	B;B	0.19200	0.02;0.034	B;B	0.19148	0.011;0.024	T	0.39078	-0.9631	10	0.52906	T	0.07	.	12.9153	0.58203	0.0:0.1633:0.8367:0.0	.	761;773	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	773;761;761;56	ENSP00000415434:S773C;ENSP00000251722:S761C;ENSP00000387898:S761C;ENSP00000408853:S56C	ENSP00000251722:S761C	S	-	2	0	USP40	234094416	0.795000	0.28851	0.868000	0.34077	0.915000	0.54546	2.092000	0.41700	2.553000	0.86117	0.585000	0.79938	TCT	USP40	-	NULL		0.333	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	G	XM_114294		234429677	-1	no_errors	ENST00000450966	ensembl	human	known	70_37	missense	SNP	0.928	C
UTP14A	10813	genome.wustl.edu	37	X	129059022	129059022	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chrX:129059022G>A	ENST00000394422.3	+	12	1628	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	UTP14A_ENST00000371051.5_Missense_Mutation_p.E480K|UTP14A_ENST00000425117.2_Missense_Mutation_p.E482K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E366K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	534					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ACCTGTGTTAGAAGGGCAGCA	0.478																																																	0													106.0	107.0	107.0					X																	129059022		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1600G>A	X.37:g.129059022G>A	ENSP00000377944:p.Glu534Lys		A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E534K	ENST00000394422.3	37	c.1600	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526647	0.27299	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	6.08	0.0981	0.14496	.	1.325480	0.04535	N	0.387039	T	0.13798	0.0334	L	0.42487	1.325	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.14023	0.01;0.01;0.01	T	0.34875	-0.9811	10	0.08599	T	0.76	-0.1255	6.7108	0.23276	0.2216:0.387:0.3914:0.0	.	480;482;534	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	482;534;480;366	ENSP00000388669:E482K;ENSP00000377944:E534K;ENSP00000360090:E480K;ENSP00000360081:E366K	ENSP00000360081:E366K	E	+	1	0	UTP14A	128886703	0.012000	0.17670	0.003000	0.11579	0.136000	0.21042	0.020000	0.13466	-0.473000	0.06871	-0.191000	0.12829	GAA	UTP14A	-	pfam_SSU_processome_Utp14		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129059022	+1	no_errors	ENST00000394422	ensembl	human	known	70_37	missense	SNP	0.016	A
ZC3H3	23144	genome.wustl.edu	37	8	144557574	144557574	+	Missense_Mutation	SNP	G	G	A			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr8:144557574G>A	ENST00000262577.5	-	5	1928	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	633					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCACCTGTGCGCAGGAGGGGC	0.647																																																	0													37.0	39.0	38.0					8																	144557574		2202	4300	6502	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1897C>T	8.37:g.144557574G>A	ENSP00000262577:p.Arg633Cys		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R633C	ENST00000262577.5	37	c.1897	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688378	0.29962	.	.	ENSG00000014164	ENST00000262577	T	0.03330	3.97	4.97	2.94	0.34122	.	0.186406	0.32952	N	0.005445	T	0.11537	0.0281	M	0.64997	1.995	0.28358	N	0.920592	D	0.89917	1.0	D	0.70016	0.967	T	0.01604	-1.1314	10	0.87932	D	0	-10.8687	6.5029	0.22178	0.0:0.1434:0.5381:0.3185	.	633	Q8IXZ2	ZC3H3_HUMAN	C	633	ENSP00000262577:R633C	ENSP00000262577:R633C	R	-	1	0	ZC3H3	144628717	0.155000	0.22806	0.076000	0.20297	0.027000	0.11550	1.521000	0.35910	1.068000	0.40764	0.655000	0.94253	CGC	ZC3H3	-	NULL		0.647	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	G	NM_015117		144557574	-1	no_errors	ENST00000262577	ensembl	human	known	70_37	missense	SNP	0.144	A
ZDHHC11	79844	genome.wustl.edu	37	5	711855	711856	+	Intron	INS	-	-	TA			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr5:711855_711856insTA	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCATTTCCCAGCACTGTGCTCC	0.505																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-856->TA	5.37:g.711855_711856insTA			Q6UWR9	RNA	INS	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.505	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	NM_024786		711856	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	INS	0.055:0.021	TA
ZDHHC12	84885	genome.wustl.edu	37	9	131486103	131486103	+	Intron	SNP	G	G	C			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr9:131486103G>C	ENST00000372663.4	-	1	113				ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Intron|ZDHHC12_ENST00000372667.5_Intron|RP11-545E17.3_ENST00000443631.1_RNA	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12						protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						GTATCAGACAGAGAGCAGGTG	0.567																																																	0																																										SO:0001627	intron_variant	84885			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.100+169C>G	9.37:g.131486103G>C			A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	RNA	SNP	-	NULL	ENST00000372663.4	37	NULL	CCDS6909.1	9																																																																																			ZDHHC12	-	-		0.567	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC12	HGNC	protein_coding	OTTHUMT00000054484.1	G	NM_032799		131486103	-1	no_errors	ENST00000467312	ensembl	human	known	70_37	rna	SNP	0.003	C
ZNF250	58500	genome.wustl.edu	37	8	146107571	146107571	+	Missense_Mutation	SNP	G	G	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr8:146107571G>T	ENST00000292579.7	-	6	1128	c.1012C>A	c.(1012-1014)Cct>Act	p.P338T	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.P333T|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	338					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(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CACCTGTGAGGCTTCTCCCCA	0.567																																					NSCLC(16;520 556 24096 40084 43446)												0													87.0	61.0	70.0					8																	146107571		2203	4300	6503	SO:0001583	missense	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1012C>A	8.37:g.146107571G>T	ENSP00000292579:p.Pro338Thr		D3DWP1|Q59HE9|Q8N942|Q96AH9	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.P338T	ENST00000292579.7	37	c.1012	CCDS34972.1	8	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873716	0.72180	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.28895	1.59;1.59	3.94	3.94	0.45596	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000176	T	0.57417	0.2052	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63220	-0.6686	10	0.56958	D	0.05	-21.379	15.944	0.79779	0.0:0.0:1.0:0.0	.	333;338	D3DWP1;P15622	.;ZN250_HUMAN	T	338;333;333	ENSP00000292579:P338T;ENSP00000393442:P333T	ENSP00000292579:P338T	P	-	1	0	ZNF250	146078375	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	5.606000	0.67641	2.511000	0.84671	0.313000	0.20887	CCT	ZNF250	-	pfscan_Znf_C2H2		0.567	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	G	NM_021061		146107571	-1	no_errors	ENST00000292579	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF728	388523	genome.wustl.edu	37	19	23171134	23171134	+	Silent	SNP	G	G	T			TCGA-HM-A3JK-01A-11D-A21Q-09	TCGA-HM-A3JK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efaa9ff8-bd77-417b-b6f6-232110c585aa	a6f880ce-99d3-4975-a271-5cae1c433e76	g.chr19:23171134G>T	ENST00000594710.1	-	2	268	c.123C>A	c.(121-123)gtC>gtA	p.V41V		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CACCCAGGAAGACCAGGTTTC	0.418																																																	0																																										SO:0001819	synonymous_variant	388523			BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.123C>A	19.37:g.23171134G>T				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.V41	ENST00000594710.1	37	c.123	CCDS59370.1	19																																																																																			ZNF728	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.418	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF728	HGNC	protein_coding	OTTHUMT00000465176.1	G	NM_001267716		23171134	-1	no_errors	ENST00000594710	ensembl	human	novel	70_37	silent	SNP	0.976	T
